Dystrophy retinal pigment epithelium. Medical search. Frequent questions

Retina with egg-yolk-like lesion in a person with vitelliform macular dystrophy. (nih.gov)
Tam's multimodal imaging uses adaptive optics-a technique that employs deformable mirrors to improve resolution-to view live cells in the retina, including the light-sensing photoreceptors, retinal pigment epithelial (RPE) cells, and blood vessels in unprecedented detail. (nih.gov)
1 While the fundus findings may be predominantly located at the central retina, in the vast majority of MDs there is psychophysical, electrophysiological or histopathological evidence of more widespread, generalised retinal involvement. (bmj.com)
We are particularly interested in studying the outer retina, consisting of photoreceptor neurons, retinal pigment epithelial cells, and choriocapillaris blood vessels. (nih.gov)
An inherited retinal dystrophy (IRD) is a genetic eye condition which affects the light sensitive cells in the retina at the back of your eyes, which over time, stops them from working. (rnib.org.uk)
IRDs such as RP are called rod-cone dystrophies because the retinal rod cells are affected more than the retinal cone cells, but the whole retina is ultimately affected. (rnib.org.uk)
Choroidal dystrophies (also known as RPE dystrophies) mainly affect how the rod and cone cells work, but they also affect the choroid and the retinal pigment epithelium (RPE) which both lie underneath the retina. (rnib.org.uk)
Our lab develops and uses adaptive optics, eye movement correction and optical microscopy technologies to improve the non-invasive visualization of the retina to the point that individual retinal structure and function and can be visualized at the cellular and even sub-cellular scale. (stanford.edu)
Retinal tears put us at great risk of developing a retinal detachment, which is a separation of the retina from the wall of the eye. (gbretina.com)
Central or branch retinal artery occlusions are essentially small 'strokes' which can happen in the retina that can affect our central and/or peripheral vision. (gbretina.com)
Retinal dystrophies are genetic diseases affecting the retina, retinal pigment epithelium and choroid that can affect visual acuity. (gbretina.com)
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). (nih.gov)
La bestrofina-1 (BEST-1) y bestrofina-2 se expresan ampliamente en las células del EPITELIO PIGMENTADO DE LA RETINA y las mutaciones del gen BEST-1 se asocian a DISTROFIA MACULAR VITELIFORME TIPO 2. (bvsalud.org)
In vertebrate eyes, the retinal pigment epithelium (RPE) provides structural and functional homeostasis to the retina. (molcells.org)
They can also disrupt the layers of the retina and may lead to retinal pigment epithelium detachment (PED). (rvaf.com)
Unlike typical dry macular degeneration where the buildup of material is below the retinal pigment epithelium, in pattern dystrophy, the buildup of material is above the pigment epithelium and directly beneath the retina (see asterisks on image). (rvaf.com)
In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod and cone photoreceptors in the outer retina and, progressively, death of cells in the inner retina. (duke.edu)
A number of miRNAs show restricted expression patterns in the developing lens, retinal pigment epithelium (RPE), neural retina, and other ocular tissues, which suggests their potential relevance to eye development and function. (brightfocus.org)
Retinitis pigmentosa is a slowly progressive, bilateral degeneration of the retina and retinal pigment epithelium caused by various genetic mutations. (msdmanuals.com)
Diagnosis is by funduscopy, which shows pigmentation in a bone-spicule configuration in the equatorial retina, narrowing of the retinal arterioles, a waxy pallor of the optic disk, posterior subcapsular cataracts, and cells in the vitreous. (msdmanuals.com)

Macular dystrophies (MDs) are a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. (bmj.com)
Choroideremia and gyrate atrophy are examples of this type of dystrophy. (rnib.org.uk)
Fundus findings ranged from a normal appearance to white dots at the level of the RPE or a retinal atrophy with vessel attenuation which was seen at a later stage. (arvojournals.org)
Other eye damage and side effects linked to Elmiron include diagnoses of retinopathy, retinal maculopathy, retinal pigment epithelium atrophy, and macular retinopathy have also been linked in studies of patients with chronic exposure to Elmiron. (wilentz.com)
The fundus appearance is varaible ranging from normal in the early stages, with only subtle temporal optic nerve pallor, macular pigment migration and atrophy or a bull's-eye maculopathy, to peripheral retinal pigment epithelium atrophy, intra retinal pigmentation migration, arteriolar attenuation, and optic disc pallor as disease progresses. (orpha.net)
Fundus examination can be normal at the early stages with only subtle temporal optic disc pallor or may show macular pigment migrations and atrophy or a bull's-eye maculopathy. (orpha.net)
Late stage findings include peripheral retinal pigment epithelium atrophy, intraretinal pigment migration, arteriolar attenuation, and optic disc pallor. (orpha.net)

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging. (nih.gov)
Examination with OCT disclosed an area of hyperreflectivity located between the retinal pigment epithelium layer and the photoreceptor layer, compatible in size with the yellowish elevated lesion. (tau.ac.il)
The hyperreflective line corresponding to the photoreceptor layer was elevated by the material and separated from the retinal pigment epithelium layer. (tau.ac.il)
Conclusions In AFVD, examination with OCT 3 demonstrates elevation of the photoreceptor layer by the material and supports the previous hypothesis that the material is located between the photoreceptor and the retinal pigment epithelium layer. (tau.ac.il)
Injection of healthy retinal pigment epithelium (RPE) cells into the subretinal space of eyes with age-related macular degeneration (AMD) and Stargardt's macular dystrophy is being studied as a therapy to prevent or reverse photoreceptor injury, as evidence suggests that dysfunction and loss of the RPE leads to photoreceptor damage and vision loss in these diseases. (arvojournals.org)
Characteristically, the impaired vision in IRDs is due to retinal photoreceptor dysfunction and loss resulting from mutation in a gene that codes for a retinal protein. (bvsalud.org)
Differential diagnosis includes other hereditary cone disorders (including achromatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors). (orpha.net)
Fd-OCT revealed extensive or focal sub-retinal pigment epithelium (RPE) deposits, separation of RPE and Bruch's membrane, and disruption of the photoreceptor outer and inner segment layers. (escholarship.org)
Retinal structure in EFEMP1 retinal dystrophy is reflected by morphological changes within the RPE/Bruch's membrane complex with accumulation of sub-RPE material associated with disrupted photoreceptor integrity. (escholarship.org)
Photoreceptor loss is the principal cause of blindness in retinal degenerative diseases (RDDs). (uab.cat)
The spectrum of damage ranged from focal photoreceptor defects to macular foramina and retinal hemorrhages associated with loss of visual acuity and central scotoma. (aerzteblatt.de)
Scholars@Duke publication: CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. (duke.edu)
These CERKL-/- animals showed progressive degeneration of photoreceptor outer segments (OSs) and increased apoptosis of retinal cells, including those in the outer and inner retinal layers. (duke.edu)
During my Doctoral studies in Molecular Medicine, I have actively contributed to the identification and characterization of the roles of specific microRNAs in vertebrate eye development, in the regulation of axon growth during optic nerve formation and in photoreceptor dystrophy. (brightfocus.org)

Tam is using multimodal imaging on a variety of other rare retinal diseases and more common ones including age-related macular degeneration. (nih.gov)
Another 2019 study conducted by three ophthalmologists from Kaiser Permanente found that long term use of Elmiron caused retinal damage in 25% of their patients taking an average of 5,000 pills annually over a 15-year period, and that Elmiron toxicity may mimic macular degeneration, pattern dystrophy, and other well-known retinal conditions. (wilentz.com)
Full-field Electroretinography in Age-related Macular Degeneration: can retinal electrophysiology predict the subjective visual outcome of cataract surgery? (lu.se)
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. (orpha.net)
The most common referring diagnoses were pattern dystrophy and macular degeneration. (vitbucklesociety.org)
Cell therapy with hiPSC-derived RPE cells and RPCs prevents visual function loss in a rat model of retinal degeneration / Salas Torras, Anna (Hospital Universitari Vall d'Hebron. (uab.cat)
Bestrophin-1 (Best1) is a calcium-activated anion channel identified from retinal pigment epithelium where human mutations are associated with Best's macular degeneration. (en-journal.org)
Pattern dystrophy is a type of dry age-related macular degeneration that involves mostly the very center of the macula. (rvaf.com)
Although some macular dystrophies affecting younger individuals are sometimes referred to as macular degeneration, the term generally refers to age-related macular degeneration (AMD or ARMD). (bhijamaica.com)
Age-related macular degeneration begins with characteristic yellow deposits (drusen) in the macula, between the retinal pigment epithelium and the underlying choroid. (bhijamaica.com)
This was achieved by investigating the protection of cone degeneration through the overexpression of five distinct mutated variants of Txnip within the retinal pigment epithelium (RPE). (elifesciences.org)
2. Dissect the mechanism of Txnip in RPE vs Cone photoreceptors in retinal degeneration models. (elifesciences.org)

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat's like vasculopathy in retinitis pigmentosa patients. (biomedcentral.com)
CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. (biomedcentral.com)
Cone-rod dystrophy (CRD) should be distinguished from rod-cone dystrophy (RCD), also known as retinitis pigmentosa. (orpha.net)
Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al. (nih.gov)
Autosomal recessively inherited mutations in RPE65 cause Leber's congenital amaurosis / early onset severe rod-cone dystrophy, severe early childhood-onset retinal dystrophy and juvenile retinitis pigmentosa. (ophthalmologybreakingnews.com)
Stem cell-derived cell transplantation in the eye is one therapy being explored for inherited retinal degenerations such as retinitis pigmentosa (RP). (nature.com)

Patients at different disease stages showed different extents of retinal pigment epithelium (RPE) and choroid abnormalities. (nature.com)
A choroidal nevus is a benign, pigmented spot in the choroid, one of the outer layers of our eye. (gbretina.com)

Purpose To report the morphologic data of adult-onset foveomacular vitelliform dystrophy (AFVD) provided by third-generation optical coherence tomography (OCT 3). (tau.ac.il)
To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT). (escholarship.org)
Optical coherence tomography (OCT) revealed focal elevation or thickening of the retinal pigment epithelium with ellipsoid-zone changes. (vitbucklesociety.org)
Optical coherence tomography scanning may also demonstrate some preservation of central macular thickness and structure surrounded by areas of retinal thinning. (ophthalmologybreakingnews.com)
Sayman Muslubas I, Arf S, Hocaoglu M, Giray Ersoz M, Karacorlu M. Best disease presenting as subretinal pigment epithelium hyperreflectivite lesion on spectral-domain optical coherence tomography: Multimodal imaging features. (octclub.org)

Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. (nih.gov)
Best disease, also termed vitelliform macular dystrophy, is typically an autosomal dominant disorder, which classically presents in childhood with the striking appearance of a yellow or orange yolklike lesion in the macula. (medscape.com)
Adult vitelliform macular dystrophy resembles Best disease, but it can be differentiated by its later age of onset, smaller lesion, and normal electro-oculogram testing. (medscape.com)
The vitelliform macular dystrophy protein defines a new family of chloride channels. (nih.gov)
Miller SA, Bresnick GH, Chandra SR. Choroidal neovascular membrane in Best's vitelliform macular dystrophy. (medscape.com)
Best's vitelliform dystrophy. (medscape.com)
Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM MACULAR DYSTROPHY, TYPE 2. (bvsalud.org)
Best1 is a plasma membrane protein encoded by the VMD2 (Vitelliform Macular Dystrophy 2) gene. (en-journal.org)
The image with this text is of a patient with adult vitelliform macular dystrophy. (rvaf.com)
An 26-year-old male patient with a history of Best vitelliform macular dystrophy presents for an examination complaining of decreased vision. (octclub.org)
Vitelliform macular dystrophy, also called Best disease, is an inherited retinal dystrophy caused by mutation in the BEST1 gene located on chromosome 11q12-q13. (octclub.org)
Indeed, the vitelliform stage, in which the macula has a characteristic yellowish appearance due to lipofuscin accumulation at the level of the retinal pigment epithelium (RPE), is frequently not present at the time of examination and sometimes it never occurs. (octclub.org)

The study concluded, "a novel and possibly avoidable maculopathy associated with chronic exposure to [Elmiron]," leading the researchers to issue a warning that long-term Elmiron use could lead to retinal damage. (wilentz.com)

PPS-associated maculopathy is a newly discovered retinal drug toxicity. (vitbucklesociety.org)

Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. (bvsalud.org)
LCA/EOSRD form part of a spectrum of inherited retinal dystrophies (IRDs) that cause severe visual loss at an early age. (gene.vision)
Inherited retinal diseases-or IRDs-are a group of diseases that can cause severe vision loss or even blindness. (ophthalmologybreakingnews.com)
Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in childhood and the most frequent in the working age population, and there are several hundred known responsible genes. (ophthalmologybreakingnews.com)

In our series of 7 cases, we documented impaired visual acuity, central visual field defects, circumscribed and sometimes complex changes of retinal reflectivity, and intraretinal fluid. (aerzteblatt.de)

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. (nih.gov)

To refine the genotype-phenotype correlation in a subset of patients with Leber's Congenital Amaurosis (LCA) or early onset retinal dystrophies (EORD) who have RPE65 gene defects. (arvojournals.org)
The results indicate that the recovery of combined or residual cone responses might be associated with a mild form of RPE65 -related early onset flecked retinal dystrophy with new compound heterozygous variants. (molvis.org)
At the present time, however, little is known about RPE65 -related FAP and/or flecked retinal dystrophy in the Japanese population. (molvis.org)
This report presents information on two unrelated Japanese patients who exhibit early onset flecked retinal dystrophy with compound heterozygous variants in the RPE65 gene. (molvis.org)
The purpose of this study was to describe the clinical and genetic features of RPE65 -related early onset flecked retinal dystrophy. (molvis.org)
The RPE65 protein is expressed in the retinal pigment epithelium (RPE) and is involved in the visual cycle. (ophthalmologybreakingnews.com)
Voretigene neparvovec -rzyl is now available for the treatment of confirmed biallelic RPE65 mutation-associated retinal dystrophy. (msdmanuals.com)

If retinal pigmentary abnormalities or vision changes are detected, POTIGA should be discontinued unless no other suitable treatment options are available and the benefits of treatment outweigh the potential risk of vision loss. (drugs.com)

To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. (molvis.org)
Progress is being made, driven by improvements in understanding of genotype-phenotype relationships, through advances in molecular genetic testing and retinal imaging. (bvsalud.org)
The diagnosis of Leber congenital amaurosis was suggested, and a genetic CRB1 sequencing for the patient and her two younger siblings, who also had severe vision loss, was done, upon which the diagnosis of Leber congenital amaurosis associated with exudative retinal detachment due to coat's like vasculopathy was made. (biomedcentral.com)
The clinical features of LCA patients usually include roving eye movements/nystagmus, digito-ocular signs (eye poking or rubbing), an apparently normal or salt-and-pepper pigmented fundus and severely reduced or absent scotopic and photopic electroretinogram (ERG), Although it is an early-onset and severe disease, LCA has a variable expression, which may reflect, at least in part, its high genetic heterogeneity [ 3 ]. (biomedcentral.com)
An IRD is a genetic disorder- a change, or variant, in one or more genes that contribute to proper retinal function. (ophthalmologybreakingnews.com)

Leber congenital amaurosis (LCA) is the name given to a group of more severe rod-cone dystrophies that lead to greater sight loss in very early childhood, often detected at birth. (rnib.org.uk)

Cone rod dystrophy (CRD) is characterized by primary cone involvement or, occasionally, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. (orpha.net)
Some patients with retinal abnormalities have been found to have abnormal visual acuity. (drugs.com)
POTIGA is a potassium channel opener indicated as adjunctive treatment of partial-onset seizures in patients aged 18 years and older who have responded inadequately to several alternative treatments and for whom the benefits outweigh the risk of retinal abnormalities and potential decline in visual acuity. (drugs.com)

POTIGA can cause retinal abnormalities with funduscopic features similar to those seen in retinal pigment dystrophies, which are known to result in damage to the photoreceptors and vision loss. (drugs.com)
2. Inhibition of HSP90 is known to cause retinal generation. (elifesciences.org)

Light-induced damage is a particularly serious threat for vertebrate photoreceptors, which absorb light photons using the photopigments in their outer segments (OS) and transduce electrochemical signals to inner retinal neurons. (molcells.org)

MIM# 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness [ 1 ]. (biomedcentral.com)
LCA accounts for at least 5 % of all retinal dystrophies and is one of the main causes of blindness in children [ 2 ]. (biomedcentral.com)
The typical phenotype of this condition is an early onset retinal dystrophy with some preservation of cone function but early loss of rod function, resulting in severe night blindness. (ophthalmologybreakingnews.com)

This is a follow-up study to the authors' previous report about the roles of an alpha-arrestin called protein thioredoxin interacting protein (Txnip) in cone photoreceptors and in the retinal pigment epithelium. (elifesciences.org)
The findings are important because they provide new information about the mechanism of glucose and lactate transport to cone photoreceptors and because they may become the basis for therapies for retinal degenerative diseases. (elifesciences.org)

The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). (medscape.com)

Cone-rod dystrophies affect the cones earlier and more severely than the rods so that central vision is affected more than peripheral vision. (rnib.org.uk)
Macular dystrophies primarily affect your central vision, usually leaving peripheral vision intact. (rnib.org.uk)

No outer retinal changes were visible outside areas with sub-RPE deposits. (escholarship.org)

Histopathology of Best's macular dystrophy. (medscape.com)

Abnormalities in the eye result from a disorder in the retinal pigment epithelium (RPE). (medscape.com)
Central retinal OCT scanning can identify different abnormalities in the retinal structures, and these might be used as other parameters for monitoring disease progression in patients with CHM. (nature.com)
The pattern of microstructural retinal abnormalities is similar but with a different extent in patients with variable phenotypes. (escholarship.org)

Gene therapies are typically delivered to target retinal cells by subretinal (SR) or intravitreal (IVT) injection. (ophthalmologybreakingnews.com)
This important proof-of-concept finding supports the development of personalized iPSC-based transplantation therapies for retinal disease. (nature.com)

A retinal detachment due to a retinal tear is surgical problem that is often reparable by either scleral buckling or vitrectomy surgery. (gbretina.com)

Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. (nature.com)

The relative preservation in childhood of retinal structure and modest visual function opens up the possibility of restoring function by gene therapy in this subtype of IRD. (ophthalmologybreakingnews.com)

The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. (bmj.com)

Modulation of these miRNAs activity strongly protects neurons from cell death and significantly ameliorates the disease phenotype in models of retinal diseases. (brightfocus.org)

The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. (bmj.com)
This review provides an update on monogenic MD and discusses the the most common subtypes, including Stargardt disease (STGD), Best disease (BD), X-linked retinoschisis (XLRS), autosomal dominant drusen (ADD), Sorsby fundus dystrophy (SFD) and pattern dystrophy (PD). (bmj.com)

En face OCT reflectance images which accompany OCTA studies offer a glimpse of the macrophage-like cellular activity above the retinal surface which responds to systemically instigated vascular events below. (stanford.edu)

The phenotypical appearance resembles pattern dystrophy. (vitbucklesociety.org)
There is a peripapillary hypoautofluorescent halo which the study authors noted to be distinct from peripapillary sparing typically seen in pattern dystrophy. (vitbucklesociety.org)
There are several types of pattern dystrophy. (rvaf.com)

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. (bmj.com)
SD-OCT revealed bilateral macular detachment and regular hyperreflective elevation of retinal pigment epithelium inferior-nasal to the fovea in the left eye (Figure 3). (octclub.org)

In severe cases this disorder may progress to total retinal detachment and visual loss in the context of longstanding RP [ 5 ]. (biomedcentral.com)

Results Fundus examination disclosed a round, elevated yellowish lesion, centered by a pigmented spot, in the macula of the left eye. (tau.ac.il)
The risk is higher when the drusen are large and numerous and associated with disturbance in the pigmented cell layer under the macula. (bhijamaica.com)

As RP affects the retinal rod cells first, the first symptom you'll notice is that you don't see as well as people without a sight condition in dim light, such as outside at dusk, or at night. (rnib.org.uk)
The premise that motivates all the work in my lab, is that after the first few days of life most retinal cells are post-mitotic, and thus early detection and treatment of disease are paramount for preventing vision loss. (stanford.edu)
Induced pluripotent stem cells (iPSCs) generated from patient fibroblasts could potentially be used as a source of autologous cells for transplantation in retinal disease. (nature.com)
Recent clinical trials evaluating allogeneic retinal grafts derived from human embryonic stem cells (hESCs) show the procedure to be safe and potentially effective 1 . (nature.com)

Frequently a surgical urgency, a diagnosis of a retinal tear usually requires prompt in-office treatment with laser. (gbretina.com)

Anatomy43

Organisms15

Diseases57

Chemicals and Drugs56

Analytical, Diagnostic and Therapeutic Techniques and Equipment45

Psychiatry and Psychology2

Phenomena and Processes37

Disciplines and Occupations2

Information Science3

Health Care1

Retina20

Atrophy7

Photoreceptor14

Degeneration12

Retinitis6

Choroid2

Optical coherence5

Vitelliform12

Lead to retinal1

Maculopathy1

IRDs4

Intraretinal1

Inherited retinal disease1

RPE657

Pigmentary1

Genetic5

Congenital amaurosis1

Visual acuity3

Cause retinal2

Inner retinal1

Blindness3

Photoreceptors2

Cystoid macular1

Peripheral2

Outer1

Macular dystrophy1

Abnormalities3

Therapies2

Detachment due1

Deposits1

Gene therapy1

Multimodal1

Neurons1

Stargardt2

Vascular1

Pattern3

Bilateral2

Disorder1

Macula2

Cells4

Tear1