An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
Diseases of the uvea.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
A somewhat heterogeneous class of enzymes that catalyze the transfer of alkyl or related groups (excluding methyl groups). EC 2.5.
One of the three ossicles of the middle ear. It transmits sound vibrations from the INCUS to the internal ear (Ear, Internal see LABYRINTH).
A large family of MONOMERIC GTP-BINDING PROTEINS that play a key role in cellular secretory and endocytic pathways. EC 3.6.1.-.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A post-translational modification of proteins by the attachment of an isoprenoid to the C-terminal cysteine residue. The isoprenoids used, farnesyl diphosphate or geranylgeranyl diphosphate, are derived from the same biochemical pathway that produces cholesterol.
Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes
The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)

Molecular basis for Rab prenylation. (1/54)

Rab escort proteins (REP) 1 and 2 are closely related mammalian proteins required for prenylation of newly synthesized Rab GTPases by the cytosolic heterodimeric Rab geranylgeranyl transferase II complex (RabGG transferase). REP1 in mammalian cells is the product of the choroideremia gene (CHM). CHM/REP1 deficiency in inherited disease leads to degeneration of retinal pigmented epithelium and loss of vision. We now show that amino acid residues required for Rab recognition are critical for function of the yeast REP homologue Mrs6p, an essential protein that shows 50% homology to mammalian REPs. Mutant Mrs6p unable to bind Rabs failed to complement growth of a mrs6Delta null strain and were found to be dominant inhibitors of growth in a wild-type MRS6 strain. Mutants were identified that did not affect Rab binding, yet prevented prenylation in vitro and failed to support growth of the mrs6Delta null strain. These results suggest that in the absence of Rab binding, REP interaction with RabGG transferase is maintained through Rab-independent binding sites, providing a molecular explanation for the kinetic properties of Rab prenylation in vitro. Analysis of the effects of thermoreversible temperature-sensitive (mrs6(ts)) mutants on vesicular traffic in vivo showed prenylation activity is only transiently required to maintain normal growth, a result promising for therapeutic approaches to disease.  (+info)

Rab27a regulates the peripheral distribution of melanosomes in melanocytes. (2/54)

Rab GTPases are regulators of intracellular membrane traffic. We report a possible function of Rab27a, a protein implicated in several diseases, including Griscelli syndrome, choroideremia, and the Hermansky-Pudlak syndrome mouse model, gunmetal. We studied endogenous Rab27a and overexpressed enhanced GFP-Rab27a fusion protein in several cultured melanocyte and melanoma-derived cell lines. In pigmented cells, we observed that Rab27a decorates melanosomes, whereas in nonpigmented cells Rab27a colocalizes with melanosome-resident proteins. When dominant interfering Rab27a mutants were expressed in pigmented cells, we observed a redistribution of pigment granules with perinuclear clustering. This phenotype is similar to that observed by others in melanocytes derived from the ashen and dilute mutant mice, which bear mutations in the Rab27a and MyoVa loci, respectively. We also found that myosinVa coimmunoprecipitates with Rab27a in extracts from melanocytes and that both Rab27a and myosinVa colocalize on the cytoplasmic face of peripheral melanosomes in wild-type melanocytes. However, the amount of myosinVa in melanosomes from Rab27a-deficient ashen melanocytes is greatly reduced. These results, together with recent data implicating myosinVa in the peripheral capture of melanosomes, suggest that Rab27a is necessary for the recruitment of myosinVa, so allowing the peripheral retention of melanosomes in melanocytes.  (+info)

Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease. (3/54)

Small GTPases of the Rab family regulate membrane transport pathways. More than 50 mammalian Rab proteins are known, many with transport step-specific localisation. Rabs must associate with cellular membranes for activity and membrane attachment is mediated by prenyl (geranylgeranyl) post-translational modification. Mutations in genes encoding proteins essential for the geranylgeranylation reaction, Rab escort protein and Rab geranylgeranyl transferase, underlie genetic diseases. Choroideremia patients have loss of function mutations in REP1 and the murine Hermansky-Pudlak syndrome model gunmetal possesses a splice-site mutation in the alpha-subunit of RGGT. Here we discuss recent insights into Rab prenylation and advances towards our understanding of both diseases.  (+info)

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. (4/54)

BACKGROUND/AIMS: Few studies have reported on the change in visual acuity (VA) in patients with choroideraemia. In order to determine the degree and rate of VA impairment associated with this disease, the central VA was analysed in a large group of patients with choroideraemia. METHODS: The authors completed a retrospective, cross sectional review of 115 patients with choroideraemia from three tertiary care centres. A longitudinal analysis was performed on 45 of these patients who met the inclusion criteria of at least three visits over a minimum period of 4.5 years. Multiple linear regression analysis was used to explore the 5 year rate of VA change while controlling for initial VA and initial age. Multiple logistic regression was also used to investigate VA impairment. RESULTS: In the cross sectional group (n = 115), 84% (87/103) of patients under the age of 60 had a VA of 20/40 or better while 33% (4/12) of patients 60 years of age or older had a VA of 20/200 or worse at their most recent visit. The majority of the patients (93%) in the longitudinal subgroup of 45 patients had a VA of 20/30 or better at their initial visit. The mean 5 year rate of VA change was 0.09 logMAR equivalent (approximately one line on the Lighthouse chart). CONCLUSION: In this cohort of patients with choroideraemia, there was typically a slow rate of VA loss and the prognosis for central VA retention was, as a group, favourable until the seventh decade.  (+info)

Rapid degradation of dominant-negative Rab27 proteins in vivo precludes their use in transgenic mouse models. (5/54)

BACKGROUND: Transgenic mice have proven to be a powerful system to study normal and pathological gene functions. Here we describe an attempt to generate a transgenic mouse model for choroideremia (CHM), a slow-onset X-linked retinal degeneration caused by mutations in the Rab Escort Protein-1 (REP1) gene. REP1 is part of the Rab geranylgeranylation machinery, a modification that is essential for Rab function in membrane traffic. The loss of REP1 in CHM patients may trigger retinal degeneration through its effects on Rab proteins. We have previously reported that Rab27a is the Rab most affected in CHM lymphoblasts and hypothesised that the selective dysfunction of Rab27a (and possibly a few other Rab GTPases) plays an essential role in the retinal degenerative process. RESULTS: To investigate this hypothesis, we generated several lines of dominant-negative, constitutively-active and wild-type Rab27a (and Rab27b) transgenic mice whose expression was driven either by the pigment cell-specific tyrosinase promoter or the ubiquitous beta-actin promoter. High levels of mRNA and protein were observed in transgenic lines expressing wild-type or constitutively active Rab27a and Rab27b. However, only modest levels of transgenic protein were expressed. Pulse-chase experiments suggest that the dominant-negative proteins, but not the constitutively-active or wild type proteins, are rapidly degraded. Consistently, no significant phenotype was observed in our transgenic lines. Coat-colour was normal, indicating normal Rab27a activity. Retinal function as determined by fundoscopy, angiography, electroretinography and histology was also normal. CONCLUSIONS: We suggest that the instability of the dominant-negative mutant Rab27 proteins in vivo precludes the use of this approach to generate mouse models of disease caused by Rab27 GTPases.  (+info)

Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. (6/54)

Choroideremia (CHM) is an X-linked retinal degenerative disease resulting from a lack of functional Rab Escort Protein-1 (REP-1). As a first step in developing gene-based therapies for this disease, we evaluated the feasibility of delivering functional REP-1 to defective lymphocytes and fibroblasts isolated from individuals with CHM. A recombinant adenovirus delivering the full-length human cDNA encoding REP-1 under the control of a cytomegalovirus promoter was generated. Adenovirus-mediated delivery of REP-1 rescued the defective cells as assessed through protein and enzymatic assays. Ultimately, it may be possible to use virus-mediated delivery of REP-1 to evaluate disease intervention in vivo.  (+info)

A case of choroideremia with recurrent anterior uveitis. (7/54)

Choroideremia is a rare hereditary disease with characteristic fundus that causes night blindness and peripheral visual field loss. The authors encounter choroideremia accompanied by recurrent uveitis. This paper is designed to give a description of the condition, along with an investigation of the literature. Ophthalmological tests and treatments were performed. Characteristic fundus, night blindness, peripheral visual field loss, electroretinography and other manifestations led us to a diagnosis of choroideremia. The anterior uveitis was managed with medication.  (+info)

Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseases. (8/54)

Post-translational geranylgeranylation of Rab GT-Pases is essential for their membrane association and function as regulators of intracellular vesicular transport. The reaction is catalyzed by Rab geranylgeranyltransferase (RGGT) and is assisted by the Rab escort proteins (REP), which form stable complexes with newly synthesized GDP-bound Rabs. Two genetic diseases involve the Rab geranylgeranylation machinery: choroideremia, an X-linked retinal degeneration resulting from loss-of-function mutations in REP1, and gunmetal, a mouse model of Hermansky-Pudlak syndrome resulting from mutations in the alpha-subunit of RGGT. A small subset of Rab proteins is selectively under-prenylated in both diseases, most notably Rab27a. Here we analyze why Rab27a is selectively affected in diseases of Rab geranylgeranylation. Semi-quantitative immunoblotting suggests that mass action, i.e. the amount of Rab27a relative to other Rabs, is unlikely to be a factor as the expression level of Rab27a is similar to other Rabs not affected in these diseases. In vitro binding assays and fluorescence resonance energy transfer detected by fluorescence lifetime imaging microscopy in intact cells demonstrate that Rab27a binds equally well to both REP1 and REP2, suggesting differential affinity of Rab27a for REP isoforms is not an important factor. However, steady-state kinetic analysis of the geranylgeranylation reaction indicates that REP2-Rab27a has lower affinity for RGGT compared with REP1-Rab27a. Furthermore, we show that Rab27a has relatively low GTPase activity, presumably decreasing the affinity of the REP interaction in vivo. We suggest that the restricted phenotypes observed in these diseases result from multiple contributing factors.  (+info)

Choroideremia is a rare inherited eye disorder that causes progressive loss of vision. It primarily affects the choroid, which is the layer of blood vessels that provides oxygen and nutrients to the outer layers of the retina. The disease also damages the retina and the optic nerve over time.

The condition is caused by mutations in the CHM gene, which provides instructions for making a protein called REP-1 that is essential for maintaining the health of the light-sensitive cells in the retina (rods and cones). Without this protein, these cells gradually deteriorate and die, leading to vision loss.

Choroideremia typically affects males more severely than females, and it usually begins in childhood with night blindness (nyctalopia) and decreased visual acuity. Over time, the field of vision becomes narrower (tunnel vision), and eventually, complete blindness can occur. Currently, there is no cure for choroideremia, but research is ongoing to develop potential treatments such as gene therapy.

Uveal diseases refer to a group of medical conditions that affect the uvea, which is the middle layer of the eye located between the sclera (the white of the eye) and the retina (the light-sensitive tissue at the back of the eye). The uvea consists of the iris (the colored part of the eye), the ciliary body (which controls the lens), and the choroid (a layer of blood vessels that provides nutrients to the retina).

Uveal diseases can cause inflammation, damage, or tumors in the uvea, leading to symptoms such as eye pain, redness, light sensitivity, blurred vision, and floaters. Some common uveal diseases include uveitis (inflammation of the uvea), choroidal melanoma (a type of eye cancer that affects the choroid), and iris nevus (a benign growth on the iris). Treatment for uveal diseases depends on the specific condition and may include medications, surgery, or radiation therapy.

Chromosome walking is a historical term used in genetics to describe the process of mapping and sequencing DNA along a chromosome. It involves the identification and characterization of a specific starting point, or "landmark," on a chromosome, followed by the systematic analysis of adjacent DNA segments, one after another, in a step-by-step manner.

The technique typically employs the use of molecular biology tools such as restriction enzymes, cloning vectors, and genetic markers to physically isolate and characterize overlapping DNA fragments that cover the region of interest. By identifying shared sequences or markers between adjacent fragments, researchers can "walk" along the chromosome, gradually building up a more detailed map of the genetic sequence.

Chromosome walking was an important technique in the early days of genetics and genomics research, as it allowed scientists to systematically analyze large stretches of DNA before the advent of high-throughput sequencing technologies. Today, while whole-genome sequencing has largely replaced chromosome walking for many applications, the technique is still used in some specialized contexts where a targeted approach is required.

Alkyl and aryl transferases are a group of enzymes that catalyze the transfer of alkyl or aryl groups from one molecule to another. These enzymes play a role in various biological processes, including the metabolism of drugs and other xenobiotics, as well as the biosynthesis of certain natural compounds.

Alkyl transferases typically catalyze the transfer of methyl or ethyl groups, while aryl transferases transfer larger aromatic rings. These enzymes often use cofactors such as S-adenosylmethionine (SAM) or acetyl-CoA to donate the alkyl or aryl group to a recipient molecule.

Examples of alkyl and aryl transferases include:

1. Methyltransferases: enzymes that transfer methyl groups from SAM to various acceptor molecules, such as DNA, RNA, proteins, and small molecules.
2. Histone methyltransferases: enzymes that methylate specific residues on histone proteins, which can affect chromatin structure and gene expression.
3. N-acyltransferases: enzymes that transfer acetyl or other acyl groups to amino groups in proteins or small molecules.
4. O-acyltransferases: enzymes that transfer acyl groups to hydroxyl groups in lipids, steroids, and other molecules.
5. Arylsulfatases: enzymes that remove sulfate groups from aromatic rings, releasing an alcohol and sulfate.
6. Glutathione S-transferases (GSTs): enzymes that transfer the tripeptide glutathione to electrophilic centers in xenobiotics and endogenous compounds, facilitating their detoxification and excretion.

The stapes is the smallest bone in the human body, which is a part of the middle ear. It is also known as the "stirrup" because of its U-shaped structure. The stapes connects the inner ear to the middle ear, transmitting sound vibrations from the ear drum to the inner ear. More specifically, it is the third bone in the series of three bones (the ossicles) that conduct sound waves from the air to the fluid-filled inner ear.

Rab GTP-binding proteins, also known as Rab GTPases or simply Rabs, are a large family of small GTP-binding proteins that play a crucial role in regulating intracellular vesicle trafficking. They function as molecular switches that cycle between an active GTP-bound state and an inactive GDP-bound state.

In the active state, Rab proteins interact with various effector molecules to mediate specific membrane trafficking events such as vesicle budding, transport, tethering, and fusion. Each Rab protein is thought to have a unique function and localize to specific intracellular compartments or membranes, where they regulate the transport of vesicles and organelles within the cell.

Rab proteins are involved in several important cellular processes, including endocytosis, exocytosis, Golgi apparatus function, autophagy, and intracellular signaling. Dysregulation of Rab GTP-binding proteins has been implicated in various human diseases, such as cancer, neurodegenerative disorders, and infectious diseases.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Protein prenylation is a post-translational modification process in which a lipophilic group, such as a farnesyl or geranylgeranyl moiety, is covalently attached to specific cysteine residues near the carboxy-terminus of proteins. This modification plays a crucial role in membrane targeting and protein-protein interactions, particularly for proteins involved in signal transduction pathways, such as Ras family GTPases. The enzymes responsible for prenylation are called protein prenyltransferases, and their dysfunction has been implicated in various diseases, including cancer and neurodegenerative disorders.

Hypohidrosis is a medical condition characterized by reduced or absent sweating. It's the opposite of hyperhidrosis, which is excessive sweating. Sweating is an essential function that helps regulate body temperature through the evaporation of sweat on the skin surface. When this process is impaired due to hypohidrosis, it can lead to difficulties in maintaining a normal body temperature, especially during physical exertion or in hot environments.

Hypohidrosis may be localized, affecting only certain areas of the body, or generalized, affecting the entire body. The causes of hypohidrosis are varied and include genetic factors, nerve damage, skin disorders, dehydration, burns, or the use of certain medications. Depending on its underlying cause, hypohidrosis can be managed through appropriate treatments, such as addressing nerve damage, managing skin conditions, or adjusting medication usage.

Adaptor proteins are a type of protein that play a crucial role in intracellular signaling pathways by serving as a link between different components of the signaling complex. Specifically, "signal transducing adaptor proteins" refer to those adaptor proteins that are involved in signal transduction processes, where they help to transmit signals from the cell surface receptors to various intracellular effectors. These proteins typically contain modular domains that allow them to interact with multiple partners, thereby facilitating the formation of large signaling complexes and enabling the integration of signals from different pathways.

Signal transducing adaptor proteins can be classified into several families based on their structural features, including the Src homology 2 (SH2) domain, the Src homology 3 (SH3) domain, and the phosphotyrosine-binding (PTB) domain. These domains enable the adaptor proteins to recognize and bind to specific motifs on other signaling molecules, such as receptor tyrosine kinases, G protein-coupled receptors, and cytokine receptors.

One well-known example of a signal transducing adaptor protein is the growth factor receptor-bound protein 2 (Grb2), which contains an SH2 domain that binds to phosphotyrosine residues on activated receptor tyrosine kinases. Grb2 also contains an SH3 domain that interacts with proline-rich motifs on other signaling proteins, such as the guanine nucleotide exchange factor SOS. This interaction facilitates the activation of the Ras small GTPase and downstream signaling pathways involved in cell growth, differentiation, and survival.

Overall, signal transducing adaptor proteins play a critical role in regulating various cellular processes by modulating intracellular signaling pathways in response to extracellular stimuli. Dysregulation of these proteins has been implicated in various diseases, including cancer and inflammatory disorders.

The choroid is a layer of the eye that contains blood vessels that supply oxygen and nutrients to the outer layers of the retina. It lies between the sclera (the white, protective coat of the eye) and the retina (the light-sensitive tissue at the back of the eye). The choroid is essential for maintaining the health and function of the retina, particularly the photoreceptor cells that detect light and transmit visual signals to the brain. Damage to the choroid can lead to vision loss or impairment.

Retinal degeneration is a broad term that refers to the progressive loss of photoreceptor cells (rods and cones) in the retina, which are responsible for converting light into electrical signals that are sent to the brain. This process can lead to vision loss or blindness. There are many different types of retinal degeneration, including age-related macular degeneration, retinitis pigmentosa, and Stargardt's disease, among others. These conditions can have varying causes, such as genetic mutations, environmental factors, or a combination of both. Treatment options vary depending on the specific type and progression of the condition.

"Fundus Oculi" is a medical term that refers to the back part of the interior of the eye, including the optic disc, macula, fovea, retinal vasculature, and peripheral retina. It is the area where light is focused and then transmitted to the brain via the optic nerve, forming visual images. Examinations of the fundus oculi are crucial for detecting various eye conditions such as diabetic retinopathy, macular degeneration, glaucoma, and other retinal diseases. The examination is typically performed using an ophthalmoscope or a specialized camera called a retinal camera.

Genetic testing for Choroideremia. Choroideremia Research Foundation is an international not-for-profit organization dedicated ... Danny Boren, 2015, "First U.S. Gene Therapy Clinical Trial to treat Choroideremia initiated in Philadelphia," Choroideremia ... Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein ... Individuals with choroideremia tend to maintain good visual acuity into their 40s, but eventually lose all sight at some point ...
TP53 Choroideremia; 303100; CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; ...
Ayazi S (1981). "Choroideremia, obesity, and congenital deafness". Am J Ophthalmol. 92 (1): 63-69. doi:10.1016/s0002-9394(14) ... "OMIM Entry - # 303110 - CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION". www.omim.org. Retrieved 2015-09-28. ... Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) is a syndrome characterized by choroideremia, congenital deafness and ... "Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21". Am J Hum Genet. 45 (4): 530-540 ...
"Entrez Gene: CHM choroideremia (Rab escort protein 1)". Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (Jan 1994 ... Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP (May 1992). "Three RFLPs for pZ11 (DXS540) in the choroideremia gene ... Donnelly P, Menet H, Fouanon C, Herbert O, Moisan JP, Le Roux MG, Pascal O (1994). "Missense mutation in the choroideremia gene ... GeneReviews/NCBI/NIH/UW entry on Choroideremia Rab+escort+protein+1,+human at the U.S. National Library of Medicine Medical ...
Seabra MC, Ho YK, Anant JS (Dec 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J Biol Chem. 270 (41): ...
2011 Choroideremia Gene Therapy Trial This trial was funded by the Health Innovation Challenge Fund and the Oxford (OUH) BRC. ... It addressed the progress of the disease choroideremia, or choroideraemia, in which a faulty gene, CHM, leads to a loss of REP1 ... 2014-04-28: BioCentury: NightstaRx: correcting choroideremia. (Kai-Jye Lou) 2016-05-04: Leatherhead local press: gene therapy ... choroideremia (CHD) glaucoma Eye-disease treatment vitrectomy retinal implants gene therapy adeno-associated virus (AAV2) Rab ...
In October 2011, the first clinical trial was announced for the treatment of choroideremia. Dr. Robert MacLaren of the ... "Gene Therapy for Blindness Caused by Choroideremia". U. S. National Institutes of Health. Retrieved 1 June 2012. MacLaren, R. E ... "First Patient Treated in Choroideremia Gene Therapy Clinical Trial in U.K". Foundation Fighting Blindness. 28 October 2011. ... "Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial". The Lancet. 383 (9923 ...
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and ... Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. ... Seabra MC, Ho YK, Anant JS (October 13, 1995). "Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia". The Journal of ... a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111-7. doi:10.1016 ...
"Entrez Gene: CHML choroideremia-like (Rab escort protein 2)". Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover ... January 1994). "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher ... Seabra MC, Ho YK, Anant JS (October 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". The Journal of ... July 1994). "Cloning and characterization of the human choroideremia gene". Human Molecular Genetics. 3 (7): 1041-6. doi: ...
SPK-7001 is an experimental drug under investigation for treatment of choroideremia, a genetic disorder that causes blindness. ... targeting choroideremia, or CHM. SPK-9001, a lead product candidate in the SPK-FIX program for hemophilia B, is being developed ...
He was also the first to describe choroideremia. Mauthner's sheath: The plasma membrane of an axon; also known as an axolemma. ... Barnard, A. R.; Groppe, M.; MacLaren, R. E. (30 October 2014). "Gene Therapy for Choroideremia Using an Adeno-Associated Viral ...
Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (1994). "REP-2, a Rab escort protein encoded by the choroideremia- ...
... a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111-7. doi:10.1016 ... a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111-7. doi:10.1016 ...
... a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111-7. doi:10.1016/S0021-9258(17)42142-9 ...
... a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111-7. doi:10.1016 ... a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111-7. doi:10.1016 ...
Simon profile at Choroideremia Research Foundation website Archived 4 February 2007 at the Wayback Machine "MEP's kidney ... He co-founded, and works as a trustee for, the Choroideremia Research Foundation. In January 2014, Simon donated a kidney to ... Simon suffers from the rare genetic disorder choroideremia: a condition that leads to progressive deterioration in eyesight, ...
... possible identity with the choroideremia gene product". Cell. 70 (6): 1049-57. doi:10.1016/0092-8674(92)90253-9. PMID 1525821. ...
These extensive findings were published between approximately 1987 (Choroideremia, a "Finnish" disorder), and 2011 (MOPD1 ... "Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence". ...
Huyser-Wierenga is blind due to choroideremia and has organized several fundraisers for finding a cure. In 2005, Ralph Witten ...
Choroideremia is an inherited genetic eye disease with no approved treatment, leading to loss of sight. In March researchers ... In January researchers reported that six choroideremia patients had been treated with adeno-associated virus with a copy of ... These include treatment of retinal diseases Leber's congenital amaurosis and choroideremia, X-linked SCID, ADA-SCID, ... "Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial". Lancet. 383 (9923): ...
Scott has choroideremia, a condition that ultimately results in blindness, and Woll uses her platform to help raise awareness ...
"Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a ...
He has a visual impairment called choroideremia, which is a hereditary condition and has resulted in him losing most of his ...
As a young boy, he was diagnosed with Choroideremia, a congenital, X-linked, recessive disease of the retina and choroid, ...
Myristoylation Palmitoylation Choroideremia, a genetic disease caused by the loss of REP1, REP2 almost compensates, but cannot ...
... dominant form microcephaly Choroid plexus cyst Choroid plexus neoplasms Choroidal atrophy alopecia Choroideremia Choroideremia ...
Hereditary choroidal dystrophy Choroideremia Dystrophy, choroidal (central areolar) (generalized) (peripapillary) Gyrate ...
Choroideremia Cohen syndrome Cornea plana 2 Diarrhea 1, secretory chloride, congenital Diastrophic dysplasia Epilepsy, ...
... choroideremia, retinoschisis, Leber congenital amaurosis, Bardet-Biedl syndrome, cone dystrophy, cone-rod dystrophy, rod-cone ...
... often via xerophthalmia Choroideremia Glaucoma Visual snow Aulus Cornelius Celsus, writing ca. 30 AD, described night blindness ...
Genetic testing for Choroideremia. Choroideremia Research Foundation is an international not-for-profit organization dedicated ... Danny Boren, 2015, "First U.S. Gene Therapy Clinical Trial to treat Choroideremia initiated in Philadelphia," Choroideremia ... Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein ... Individuals with choroideremia tend to maintain good visual acuity into their 40s, but eventually lose all sight at some point ...
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. Explore symptoms, inheritance ... Choroideremia is inherited in an X-linked recessive pattern. . The CHM gene is located on the X chromosome, which is one of the ... The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is ... Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1 ...
Choroideremia (CHM) is an X-linked chorioretinal dystrophy caused by variants in the CHM gene. The aim of this study was to ... Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. Mol Vis. 2011;17: ... Choroideremia (CHM) is an X-linked chorioretinal dystrophy caused by variants in the CHM gene. The aim of this study was to ... Song, Y., Chen, C., Xie, Y. et al. Clinical and genetic findings in a Chinese cohort with choroideremia. Eye 37, 459-466 (2023 ...
4D-110is under clinical development by 4D Molecular Therapeutics and currently in Phase II for Choroideremia. ... Premium Insights Likelihood of Approval and Phase Transition Success Rate Model - 4D-110 in Choroideremia Buy the Report ... Premium Insights Likelihood of Approval and Phase Transition Success Rate Model - 4D-110 in Choroideremia. Buy the Report ... 4D-110 is under clinical development by 4D Molecular Therapeutics and currently in Phase II for Choroideremia. According to ...
... including Choroideremia, have uncovered some unforeseen problems, such as the most recent Phase III clinical trial sponsored by ... The outcomes of viral-mediated gene therapy trials in Ophthalmology, including Choroideremia, have uncovered some unforeseen ...
Choroideremia Research Foundation invites Maureen McCall, Ph.D. to join science advisory board ... About Choroideremia. Choroideremia (CHM) is a rare inherited form of blindness affecting approximately 1 in 50,000 people. Due ... About the Choroideremia Research Foundation Inc.. The Choroideremia Research Foundation was founded in 2000 as an international ... CHOROIDEREMIA RESEARCH FOUNDATION STRENGTHENS LEADERSHIP CHOROIDEREMIA RESEARCH FOUNDATION ACCELERATES SCIENTIFIC RESEARCH OF ...
CHOROIDEREMIA RESEARCH FOUNDATION STRENGTHENS LEADERSHIPKathi Wagner2020-07-17T08:15:05-05:00 The Choroideremia Research ... The Choroideremia Research Foundation Announces Funding Grants for CHM ResearchKathi Wagner2020-03-17T19:34:02-05:00 ... CHOROIDEREMIA RESEARCH FOUNDATION SEEKS TO UNDERSTAND A DISEASE RELATED TO RETINITIS PIGMENTOSA CAUSING VISION LOSSKathi Wagner ... CHOROIDEREMIA RESEARCH FOUNDATION SUPPORTS NEW RESEARCH TO EXPAND KNOWLEDGE OF THIS RARE INHERITED RETINAL DISEASEKathi Wagner ...
... in a male participant with choroideremia, showing that enlarged RPE cells can be detected using Tams multimodal imaging ... Choroideremia affects men more than women because the gene responsible for the disease is located on the X chromosome. Since ... "One major finding of our study was that the RPE cells are dramatically enlarged in males and females with choroideremia," said ... His team was able to see in detail the extent to which choroideremia disrupts these tissues, providing information that could ...
ProjectCHM (Choroideremia) You are here!. Home. Choroideremia is a slowly progressive inherited retinal disease caused by ... Choroideremia is estimate to occur in 1/100,000 individuals in the general population. Thus, we expect about 3,400 affected ... Because women have two copies of the X-chromosome and men only have one, full blown choroideremia is much more common in men ... Project CHM seeks to reverse this message and make it clear that there is much that the individuals with choroideremia can do ...
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title = "Choroid eremia",. abstract = "CHOROIDEREMIA is a rare clinical entity. The name, which implies a congenital absence of ... Choroid eremia. / PAMEYER, J K; WAARDENBURG, P J; HENKES, H E. In: British Journal of Ophthalmology, Vol. 44, No. 12, 12.1960, ... CHOROIDEREMIA is a rare clinical entity. The name, which implies a congenital absence of the choroid, is not very well chosen, ... N2 - CHOROIDEREMIA is a rare clinical entity. The name, which implies a congenital absence of the choroid, is not very well ...
Choroideremia subjects had significantly higher low luminance, 2.5 per cent low‐contrast and 1.25 per cent low‐contrast ... Background: Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and ... Results: A higher number of choroideremia subjects were able to complete the low‐luminance test than the low‐contrast visual ... Method: Standard high‐contrast and low‐luminance visual acuity was obtained on 29 choroideremia subjects and 16 healthy ...
Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging ... Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging ...
choroideremia, drusenoid flecks, atrophy Description. Choroideremia with periperal pigment changes, drusenoid flecks, patchy ...
Choroideremia shows X-linked recessive inheritance and the choroideremia gene (CHM) was one of the first to be identified by ... Encouragingly, several specific molecular and clinical features make choroideremia an ideal candidate for treatment with gene ... no established treatments currently exist to stop or even slow the progression of retinal degeneration in choroideremia. ... Choroideremia is an outer retinal degeneration with a characteristic clinical appearance that was first described in the ...
Novel imaging approach reveals important details about rare eye disease choroideremia September 13, 2022 ... have shown for the first time how cells across different tissue layers in the eye are affected in people with choroideremia, a ... "Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive ...
Long term vision results following retinal gene therapy for choroideremia MacLaren RE., Edwards TL., Jolly J., Barnard AR., Xue ...
CONCLUSION: Choroideremia is a disease in which the choriocapillaris maintains a normal structure until the loss of the ... METHODS: Six men with choroideremia were identified and underwent standardized optical coherence tomography angiography as part ... Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency ... PURPOSE: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the ...
Female carrier of choroideremia. * Representative electroretinograms of patients with healthy eyes, rod-cone dystrophy, and ...
Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and ... Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and ...
Choroideremia Therapeutic Assessment: Choroideremia current marketed and Choroideremia emerging therapies. *Choroideremia ... Choroideremia Overview. Choroideremia is a rare genetic disorder of vision that is more common in man. It is an X-linked ... Further Choroideremia product details are provided in the report. Download the Choroideremia pipeline report to learn more ... Choroideremia pipeline constitutes 5+ key companies continuously working towards developing 5+ Choroideremia treatment ...
Assessment of the relationship between CHM gene expression and rate of disease progression in choroideremia ... Assessment of the relationship between CHM gene expression and rate of disease progression in choroideremia ...
Choroideremia: This is a hereditary, progressive degeneration of the choroid that primarily affects men. Choroideremia (ko-roy ...
Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem 1995. 270:24420-24427. View this article via: PubMed ...
Adaptive Optics Sheds Light on Choroideremia Using adaptive optics to image RPE cells in choroideremia. ...
  • Pathogenic mechanisms and the prospect of gene therapy for choroideremia. (nature.com)
  • Gene therapy for choroideremia using an adeno-associated viral (AAV) vector. (ox.ac.uk)
  • Loss of REP-1 function and subsequent misplacement of Rab proteins within the cells of the retina causes the progressive vision loss characteristic of choroideremia. (medlineplus.gov)
  • A diagnosis of choroideremia can be made based on family history, symptoms and the characteristic appearance of the fundus. (wikipedia.org)
  • Mutational analysis of patients with the diagnosis of choroideremia. (medlineplus.gov)
  • However, choroideremia shares several clinical features with retinitis pigmentosa, a similar but broader group of retinal degenerative diseases, making a specific diagnosis difficult without genetic testing. (wikipedia.org)
  • By combining traditional eye imaging techniques with adaptive optics - a technology that enhances imaging resolution - researchers at the National Eye Institute (NEI) have shown for the first time how cells across different tissue layers in the eye are affected in people with choroideremia, a rare genetic disorder that leads to blindness. (southfloridahospitalnews.com)
  • ProjectCHM seeks to identify every person in the United States affected with choroideremia and offer them state of the art genetic testing on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa. (carverlab.org)
  • Make a genetic test for choroideremia available to all who might benefit from one. (carverlab.org)
  • Many insurance companies are currently unfamiliar with the value of genetic testing for choroideremia. (carverlab.org)
  • As a result, genetic testing will become part of the "standard of care" for choroideremia in the United States. (carverlab.org)
  • Choroideremia is a rare genetic disorder of vision that is more common in man. (giridihjournal.in)
  • The CRF has funded more than $4 million in scientific research for a treatment and/or cure for choroideremia (CHM), a rare and inherited retinal disease that causes visual impairment and potentially complete blindness. (einnews.com)
  • Choroideremia is a slowly progressive inherited retinal disease caused by recessive mutations of the CHM gene that lies on the long arm of the X-chromosome. (carverlab.org)
  • PURPOSE: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. (ox.ac.uk)
  • Because of this choroideremia is often initially misdiagnosed as retinitis pigmentosa. (wikipedia.org)
  • Choroideremia is inherited in an X-linked recessive pattern . (medlineplus.gov)
  • Choroideremia shows X-linked recessive inheritance and the choroideremia gene (CHM) was one of the first to be identified by positional cloning in 1990. (ox.ac.uk)
  • 4D-110 is under clinical development by 4D Molecular Therapeutics and currently in Phase II for Choroideremia. (pharmaceutical-technology.com)
  • Key companies developing therapies for Choroideremia are - NightstaRx Ltd/Biogen, 4D Molecular Therapeutics, Curative Biotech, Therapeutics, Spark therapeutics/Roche, and others. (giridihjournal.in)
  • For instance, Spark Therapeutics, Inc. has SPK-7001 (Choroideremia/ Phase ½), SPK-8011 (Hemophilia A/Phase ½), and SPK-3006 (Pompe Disease/preclinical) in the pipeline. (medgadget.com)
  • Choroideremia (CHM) is an X-linked chorioretinal dystrophy caused by variants in the CHM gene. (nature.com)
  • Using adaptive optics to image RPE cells in choroideremia. (aao.org)
  • Choroideremia is an outer retinal degeneration with a characteristic clinical appearance that was first described in the nineteenth century. (ox.ac.uk)
  • SPRINGFIELD, MA, UNITED STATES, January 4, 2022 / EINPresswire.com / -- The Choroideremia Research Foundation (CRF) is thrilled to announce the expansion of its prestigious Scientific Advisory Board with the addition of Maureen McCall, Ph.D. Dr. McCall is Professor & Vice Chair of Research for the Department of Ophthalmology and Visual Sciences at the University of Louisville (Kentucky). (einnews.com)
  • Encouragingly, several specific molecular and clinical features make choroideremia an ideal candidate for treatment with gene therapy. (ox.ac.uk)
  • Mutations in the CHM gene cause choroideremia. (medlineplus.gov)
  • The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype. (nature.com)
  • By collecting some basic clinical information from thousands of people affected with choroideremia, doctors will be able to discern the clinical severity associated with specific mutations in the CHM gene and will be able to use this information to give newly diagnosed individuals and their families more accurate information about what to expect. (carverlab.org)
  • A movie called Saving Sight detailed the fight to develop a treatment for a slowly-progressive eye disorder called choroideremia. (rareshare.org)
  • Gene therapy is currently not a treatment option, however human clinical trials for both choroideremia and Leber's congenital amaurosis (LCA) have produced somewhat promising results. (wikipedia.org)
  • Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. (nature.com)
  • The outcomes of viral-mediated gene therapy trials in Ophthalmology, including Choroideremia, have uncovered some unforeseen problems, such as the most recent Phase III clinical trial sponsored by Biogen, which failed to meet the endpoints. (fchampalimaud.org)
  • Trials of new treatments for choroideremia will require access to molecularly confirmed individuals affected with the disease. (carverlab.org)
  • This study assesses whether low‐luminance visual acuity and low‐contrast visual acuity provide useful endpoints in choroideremia clinical trials. (ox.ac.uk)
  • Las Vega (Nevada), United States //- As per DelveInsight's assessment, globally, Choroideremia pipeline constitutes 5+ key companies continuously working towards developing 5+ Choroideremia treatment therapies, analysis of Clinical Trials, Therapies, Mechanism of Action, Route of Administration, and Developments analyzes DelveInsight. (giridihjournal.in)
  • In the study, 2 doses of the AAV.REP1 vector were injected subretinally in 12 patients with choroideremia. (wikipedia.org)
  • The therapy is based on vector evolution platform technology that uses AAV2 (Adeno-Associated Virus2) vector variant carrying a transgene encoding a codon-optimized human choroideremia (CHM) gene. (pharmaceutical-technology.com)
  • Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. (nih.gov)
  • His team was able to see in detail the extent to which choroideremia disrupts these tissues, providing information that could help design effective treatments for this and other diseases. (southfloridahospitalnews.com)
  • Defects in Rab27A function are associated with the human diseases choroideremia and Griscelli syndrome 2 and the ashen mutant mouse. (bdbiosciences.com)
  • The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. (medlineplus.gov)
  • Choroideremia is estimate to occur in 1/100,000 individuals in the general population. (carverlab.org)
  • There are currently no approved treatments for Choroideremia. (einnews.com)
  • Despite several decades of work to understand the exact pathogenesis, no established treatments currently exist to stop or even slow the progression of retinal degeneration in choroideremia. (ox.ac.uk)
  • CONCLUSION: Choroideremia is a disease in which the choriocapillaris maintains a normal structure until the loss of the overlying retinal pigment epithelium. (ox.ac.uk)
  • The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. (medlineplus.gov)
  • Choroideremia (CHM) is a rare inherited form of blindness affecting approximately 1 in 50,000 people. (einnews.com)
  • CHOROIDEREMIA is a rare clinical entity. (eyehospital.nl)
  • Choroideremia is thought to account for approximately 4 percent of all blindness. (medlineplus.gov)
  • In 2011, the first gene therapy treatment for choroideremia was administered. (wikipedia.org)
  • 4D-110 is under development for the treatment of choroideremia. (pharmaceutical-technology.com)
  • Companies across the globe are diligently working toward developing novel Choroideremia treatment therapies with a considerable amount of success over the years. (giridihjournal.in)
  • The report provides detailed insights about companies that are developing therapies for the treatment of Choroideremia with aggregate therapies developed by each company for the same. (giridihjournal.in)
  • According to GlobalData, Phase II drugs for Choroideremia does not have sufficient historical data to build an indication benchmark PTSR for Phase II. (pharmaceutical-technology.com)
  • Choroideremia pipeline report provides the therapeutic assessment of the pipeline drugs by the Route of Administration. (giridihjournal.in)
  • A study of 115 individuals with choroideremia found that 84% of patients under the age of 60 had a visual acuity of 20/40 or better, while 33% of patients over 60 years old had a visual acuity of 20/200 or worse. (wikipedia.org)
  • One study found that a dietary supplement of lutein increases macular pigment levels in patients with choroideremia. (wikipedia.org)
  • CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia. (nature.com)
  • About the Choroideremia Research Foundation Inc. (einnews.com)
  • The Choroideremia Research Foundation was founded in 2000 as an international fundraising and patient advocacy organization to stimulate research on CHM. (einnews.com)
  • An estimated 6,000 people in the United States and 10,000 in the European Union are impacted by Choroideremia. (einnews.com)
  • The first symptom many individuals with choroideremia notice is a significant loss of night vision, which begins in youth. (wikipedia.org)
  • Choroideremia is a condition characterized by progressive vision loss that mainly affects males. (medlineplus.gov)
  • Many individuals affected with choroideremia have been told directly or indirectly that "there is nothing that can be done" to arrest the disease or improve their vision. (carverlab.org)
  • Individuals with choroideremia tend to maintain good visual acuity into their 40s, but eventually lose all sight at some point in the 50-70 age range. (wikipedia.org)
  • Method: Standard high‐contrast and low‐luminance visual acuity was obtained on 29 choroideremia subjects and 16 healthy controls, using a logMAR chart, set at four metres. (ox.ac.uk)
  • Results: A higher number of choroideremia subjects were able to complete the low‐luminance test than the low‐contrast visual acuity tests. (ox.ac.uk)
  • Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. (wikipedia.org)
  • Choroideremia affects men more than women because the gene responsible for the disease is located on the X chromosome. (southfloridahospitalnews.com)
  • Because women have two copies of the X-chromosome and men only have one, full blown choroideremia is much more common in men than in women. (carverlab.org)
  • Female carriers have a 50% chance of having either an affected son or a carrier daughter, while a male with choroideremia will have all carrier daughters and unaffected sons. (wikipedia.org)
  • RPE cells (see circled examples) in a male participant with choroideremia, showing that enlarged RPE cells can be detected using Tam's multimodal imaging approach. (southfloridahospitalnews.com)
  • Photoreceptor and blood vessel layers were less affected in both male and female study participants, suggesting that RPE disruption plays an important role in choroideremia. (southfloridahospitalnews.com)
  • The CRF awards three research grants totaling $219,000 to continue leading efforts to find a cure for Choroideremia Springfield, MA. (curechm.org)
  • Project CHM seeks to reverse this message and make it clear that there is much that the individuals with choroideremia can do as a group to help combat this disease. (carverlab.org)
  • Additional information regarding choroideremia may be found at the Project CHM Resource Page . (carverlab.org)
  • " Choroideremia Pipeline Insight, 2023 " report by DelveInsight outlines comprehensive insights into the present clinical development scenario and growth prospects across the Choroideremia Market. (giridihjournal.in)
  • Choroideremia Emerging therapies such as - Metformin, 4D-110, SPK-7001, BIIB111 , and others are expected to have a significant impact on the Choroideremia market in the coming years. (giridihjournal.in)
  • METHODS: Six men with choroideremia were identified and underwent standardized optical coherence tomography angiography as part of an ethics-approved clinical study and were compared with age-matched control subjects. (ox.ac.uk)
  • Choroideremia gene therapy phase 2 clinical trial: 24-month results. (nature.com)
  • The Choroideremia Pipeline report embraces in-depth commercial and clinical assessment of the pipeline products from the pre-clinical developmental phase to the marketed phase. (giridihjournal.in)
  • One major finding of our study was that the RPE cells are dramatically enlarged in males and females with choroideremia," said Tam. (southfloridahospitalnews.com)