AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceHealth Care
Retinal DystrophiesMuscular DystrophiesRetinal DegenerationMyotonic DystrophyLeber Congenital AmaurosisMuscular Dystrophy, DuchenneMutation, MissenseRetinitis PigmentosaPoint MutationMutationCorneal Dystrophies, HereditaryElectroretinographycis-trans-IsomerasesPedigreeEye ProteinsMuscular Dystrophy, AnimalFundus OculiGenes, RecessiveConsanguinityFrameshift MutationDNA Mutational AnalysisFuchs' Endothelial DystrophyRetinal DiseasesLaurence-Moon SyndromeEye Diseases, HereditaryPhotoreceptor Cells, VertebrateRetinaPeripherinsBlindnessExonsDystrophinMuscular Dystrophy, FacioscapulohumeralGenes, DominantCodon, NonsensePhenotypeMicrophthalmosBardet-Biedl SyndromeHeterozygotePigment Epithelium of EyeNight BlindnessSyndromeBase SequenceMolecular Sequence DataPhotoreceptor CellsGerm-Line MutationPolymorphism, Single-Stranded ConformationalAlstrom SyndromeHomozygoteDark AdaptationVisual AcuityRetinal Pigment EpitheliumPolymerase Chain ReactionMuscular Dystrophy, Emery-DreifussOptic Atrophy, Hereditary, LeberChromosome MappingUsher SyndromesMice, Inbred mdxGenetic LinkageAmino Acid SubstitutionGenotypeRetinal Rod Photoreceptor CellsFluorescein AngiographyOptic Atrophies, HereditaryGenetic TestingAmino Acid SequenceExomeRetinal Cone Photoreceptor CellsMacular DegenerationNeuroaxonal DystrophiesChoroid DiseasesAge of OnsetSarcoglycansKidney Diseases, CysticHeteroduplex AnalysisOptic Disk DrusenRats, Mutant StrainsSequence Analysis, DNAMembrane ProteinsMutation RateAbnormalities, MultipleLipofuscinCarrier ProteinsVisual FieldsRhodopsinAllelesNerve Tissue ProteinsTomography, Optical CoherenceProteinsLod ScoreDystroglycansIntellectual DisabilityMuscular Dystrophy, OculopharyngealVisual Field TestsMuscle, SkeletalReflex Sympathetic DystrophyVitelliform Macular DystrophyIntermediate Filament ProteinsVision DisordersOphthalmoscopyATP-Binding Cassette Transporters
Retinitis pigmentosaDegenerationRPE65PhenotypePigmentSevereMacular dystrophyAtrophyClinicalHereditaryAmaurosisPhenotypesGeneticFundusAbnormalitiesOMIMZolgensmaPRPH2SyndromicProgressive retinalBlindnessRecessiveIRDsInherited retinal diseaseOnsetChromosomeRetinaBEST1Optical coherenceFindingsDiseasesDiseaseABCA4Outer-retinalCRB1PrevalenceDominantDisordersPhenotypicPigmentaryThoracic dystrophyDecrease in visual acuityVisual acuityLuxturnaPathogenic2017InheritanceDifferent genesEFEMP1Homozygous
Retinitis pigmentosa12
Degeneration11
  • Therefore, the detection of central retinal degeneration requires thorough fundus examination. (scielo.br)
  • Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders that often lead to photoreceptor degeneration. (nature.com)
  • Biallelic variants in the cilia gene DYNC2H1 have been associated with two severe ciliopathies: Jeune asphyxiating thoracic dystrophy (JATD, MIM 613091) and short-rib polydactyly (SRP, MIM 613091) with only four documented cases of associated complex early retinal degeneration at ages 2 months, and 2, 5, and 11 years old. (nature.com)
  • Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration. (ox.ac.uk)
  • Design, Setting, and Participants: This case-series study was conducted at 2 specialist retinal genetics clinics and examined 19 consecutively enrolled patients with PROM1-related retinal degeneration. (ox.ac.uk)
  • Conclusions and Relevance: In this case-series study, PROM1 recessive variants were associated with early-onset, severe panretinal degeneration. (ox.ac.uk)
  • As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. (upenn.edu)
  • Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. (msdmanuals.com)
  • These findings may include chorioretinal degeneration and atrophy centered around the fovea, "bone-spicule" like pigmentation, subretinal flecks, "marbled" fundus, pigmented nummular lesions at the level of the retinal pigment epithelium (RPE), optic disc abnormalities, and a "Coats like" reaction. (mycorneacare.com)
  • Inherited retinal degeneration (IRD) resulting from associated biallelic mutations of the RPE65 gene typically ends in blindness by the third or fourth decade of life. (reviewofoptometry.com)
  • Real-world experience with Voretigene Neparvovec gene augmentation therapy in RPE65 -mutation associated inherited retinal degeneration. (reviewofoptometry.com)
RPE659
  • One example is a specific form of retinal dystrophy caused by a mutation in the RPE65 gene. (healthline.com)
  • Luxturna (voretigene neparvovec-rzyl), approved in Dec 2017, is an adeno-associated virus vector-based gene therapy indicated for treating patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. (pharmexec.com)
  • For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
  • Myopic-looking fundus with slight attenuation of the vasculature in this young child with RPE65 mutations. (aao.org)
  • Luxturna, a gene therapy drug, was approved by the FDA in 2017 for LCA patients with a RPE65 mutation. (mycorneacare.com)
  • CEP290 (15%), GUCY2D (12%), and CRB1 (10%) and RPE65 (8%) are the most frequently mutated LCA genes. (mycorneacare.com)
  • autofluorescence is normal in GUCY2D mutation but absent in RPE65 mutations. (mycorneacare.com)
  • Leber's congenital amaurosis (pictured) and related RPE65 conditions were generally responsive to gene therapy, particularly in the pediatric population of participants. (reviewofoptometry.com)
  • Three years ago, the FDA approval of subretinal voretigene neparvovec (Luxturna, Spark Therapeutics) received worldwide acclaim as the first commercialized gene therapy to counteract progress of RPE65 -IRD. (reviewofoptometry.com)
Phenotype9
  • All identified variants affect either a retina-predominant transcript or are hypomorphic, suggesting a basis for a nonsyndromic retinal phenotype. (nature.com)
  • The recessive cases were associated with a panretinal dystrophy of cone-rod phenotype with early macular involvement, whereas the dominant variants were associated with a cone-rod phenotype that was restricted to the macula with predominantly cone dysfunction. (ox.ac.uk)
  • In contrast, the dominant missense cases were associated with a milder, cone-driven phenotype, suggesting that the dominant disease is preferentially associated with cones. (ox.ac.uk)
  • There is a highly specific genotype-phenotype correlation between the LMNA R527H mutation and MAD. (bmj.com)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Purpose: To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase ( LRAT ) gene. (rphope.org)
  • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. (cdc.gov)
  • Gene(s) directly associated with this condition or phenotype. (nih.gov)
  • The expression of VSX1 is produced by retinal cells and keratocytes of the cornea, and in the latter it is almost not observed in a calm state, but is clearly detected during the transition to the phenotype of fibroblasts and myofibroblasts. (keratoconusa.net)
Pigment5
  • 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)
  • 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)
  • Funduscopy revealed severe retinal pigment epithelial atrophy and minimal retinal pigmentation. (rphope.org)
  • 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)
  • Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). (asperbio.com)
Severe12
  • 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)
  • MIM# 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness [ 1 ]. (biomedcentral.com)
  • In severe cases this disorder may progress to total retinal detachment and visual loss in the context of longstanding RP [ 5 ]. (biomedcentral.com)
  • In some cases, parents of affected individuals have less severe eye abnormalities. (medlineplus.gov)
  • LCA/EOSRD form part of a spectrum of inherited retinal dystrophies (IRDs) that cause severe visual loss at an early age. (gene.vision)
  • Some genes are associated with a severe but stable disease course such as GUCY2D or CEP290 while others gradually progress like those with AIPL1 mutations. (gene.vision)
  • XLRS may progress to retinal detachment in 5-22% of affected individuals, including infants with severe retinoschisis. (institut-vision.org)
  • LRAT mutations cause a severe, early childhood onset, progressive retinal dystrophy. (rphope.org)
  • Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. (nih.gov)
  • Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and its corresponding coronavirus disease (COVID-19) was first reported as a cluster of pneumonia cases in. (annals.edu.sg)
  • Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. (asperbio.com)
  • Leber Congenital Amaurosis (LCA) is a family of congenital retinal dystrophies that results in severe vision loss at an early age leading to blindness by the age of one. (mycorneacare.com)
Macular dystrophy5
  • The inheritance of Kjellin's syndrome is autosomal recessive, and the syndrome is characterized by spastic paraplegia, mental retardation, amyotrophy, thin corpus callosum, and macular dystrophy ( 2 2 Webb S, Patterson V, Hutchinson M. Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia. (scielo.br)
  • To determine whether a mutation in the RP1-like protein 1 ( RP1L1 ) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD. (molvis.org)
  • The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease. (upenn.edu)
  • 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)
Atrophy6
  • She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. (bvsalud.org)
  • The present AAV-based Gene therapy market owns two FDA-approved AAV-based gene therapies namely, Luxturna, approved in 2017 for a rare inherited retinal dystrophy, and Zolgensma, approved in 2019 for spinal muscular atrophy. (technewspoint.com)
  • Zolgensma (onasemnogene abeparvovec-xioi) approved in May 2019, is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than two years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene. (pharmexec.com)
  • OCT can be used to see retinal atrophy which is common in LCA. (mycorneacare.com)
  • Subretinal injection of voretigene neparvovec achieved stable median BCVA and mean retinal thickness, and improvements in low-level luminance VA up to 32 months, but new chorioretinal atrophy appeared in 50% of treated eyes. (reviewofoptometry.com)
  • Some involve in vivo delivery of new genetic material, such as Luxturna ® (voretigene neparvovecrzyl, Spark Therapeutics ) for the treatment of vision loss due to a variety of inheritable retinal dystrophies and Zolgensma ® (onasemnogene abeparvovec-xioi, Novartis ) for the treatment of babies born with spinal muscular atrophy. (polyplus-sartorius.com)
Clinical12
  • The clinical symptoms of PIDs include, but are not limited to, susceptibility to infections, inflammation, and autoimmunity, although each gene mutated, and indeed each individual mutation, can lead to different manifestations. (databasefootball.com)
  • Some have considered Malattia Leventinese and Doyne honeycomb retinal dystrophy as separate entities but mutations in the same gene seem to be responsible for both conditions suggesting they are clinical variations of the same disorder. (arizona.edu)
  • Whereas among the emerging AAV gene therapies, Valoctocogene Roxaparvovec (BMN 270) expected to generate the maximum revenue by 2032 in the 7MM from the haemophilia A owing to visibility around the clinical profile and also early mover advantage. (technewspoint.com)
  • However, given that the lifetime cost of treating many genetic conditions is significantly higher than the one-time cost of these gene therapies, it is essential to evaluate long-term clinical and cost-effectiveness tradeoffs associated with these therapies. (pharmexec.com)
  • Currently, there are over a hundred gene therapies in the clinical development pipeline. (pharmexec.com)
  • 26 genes have been identified currently that cause LCA/EOSRD and as a result, there is significant inter- and intrafamilial phenotypic variability in terms of signs and symptoms of visual dysfunction, disease progression and clinical findings. (gene.vision)
  • A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2. (xenbase.org)
  • The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. (cdc.gov)
  • Clinical assessment and identification of immuno-oncology markers concerning the 19-gene based risk classifier in stage IV colorectal cancer. (cdc.gov)
  • Application: a) Carrier identification in offspring after mating of a 'CNM-carrier' with a 'CNM-free' animal, b) Differential diagnosis in cases of clinical muscle insufficiency. (generatio.de)
  • There's been a clinical trial using it for the PAX6 gene for anaritic keratopathy. (cybersight.org.cn)
  • Diagnosis of facioscapulohumeral muscular dystrophy is indicated by characteristic clinical findings, age at onset, and family history and is confirmed by DNA testing. (msdmanuals.com)
Hereditary3
  • however, only the 2 subtypes involving mutations of SPG11 and SPG15 are associated with Kjellin's syndrome ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • The hereditary disease, whose causative mutation in the MYO5A gene is detected with the test, was initially called Griscelli type 1 analogue syndrome because of the analogy in humans. (generatio.de)
  • One in 3,000 people in the world has some form of hereditary retinal dystrophy, one of the rare diseases with the highest incidence in the population. (oullins-patriote.com)
Amaurosis6
  • This is the first report of the occurrence of coat's like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by a CRB1 mutation. (biomedcentral.com)
  • In this unique case we are reporting the incidence of coat's like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by CRB1 gene mutation, and its management. (biomedcentral.com)
  • Methods: A total of 149 patients with Leber's congenital amaurosis (LCA) or early onset retinal dystrophy were screened for mutations in LCA-associated genes using an arrayed-primer extension (APEX) genotyping microarray (Asper Ophthalmics). (rphope.org)
  • Leber congenital amaurosis may also be associated with mutations in genes linked to other syndromes presenting with neurodevelopmental delay, intellectual disability, apraxia (eye movement difficulty) and renal dysfunction. (oligofastx.com)
  • There are 17 or so subtypes of genetic or permanent Leber's congenital amaurosis, which are caused by mutations in different genes, although there are 30% of causes that are still under investigation. (oligofastx.com)
  • Leber Congenital Amaurosis (LCA) is a congenital retinal dystrophy resulting in nystagmus and significantly reduced vision. (mycorneacare.com)
Phenotypes6
  • Importance: The PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity. (ox.ac.uk)
  • Background Dominant mutations in peripherin ( PRPH2 ) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. (bmj.com)
  • Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. (bmj.com)
  • The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect. (bmj.com)
  • The pattern of microstructural retinal abnormalities is similar but with a different extent in patients with variable phenotypes. (escholarship.org)
  • Various phenotypes (LCA1 to LCA19) with at least 29 genotypes have been identified in around 70-80% of cases of LCA. (mycorneacare.com)
Genetic14
  • Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. (wikipedia.org)
  • Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. (molvis.org)
  • Genetic testing of FAM3 (n = 7 affected) identified a mutation in PRPH2 (p.Pro216Leu) tracking with disease in six of the seven affected individuals. (molvis.org)
  • Some genetic heterogeneity may exist since a few cases seem to be linked to a locus at 6q14. (arizona.edu)
  • Main Outcomes and Measures: Results of ophthalmic examination, retinal imaging, and molecular genetic analysis by next-generation sequencing. (ox.ac.uk)
  • In some cases, vision loss happens as a result of the natural aging process, or you may be born with vision impairment due to genetic mutations. (healthline.com)
  • Gene therapies will revolutionize healthcare by offering potential curative treatments for patients dealing with genetic diseases. (pharmexec.com)
  • Lecture: Stem Cell & Gene Therapy for Ocular Genetic Disease: What Technologies are Already Transforming the Ophthalmic World? (cybersight.org.cn)
  • I've been asked to talk about stem cell and gene therapy for ocular and genetic disease. (cybersight.org.cn)
  • Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
  • It is decisive to be able to make a good genetic diagnosis of patients and identify the gene that causes the disease. (oullins-patriote.com)
  • A good part of the efforts in rare vision diseases is focused precisely on this genetic diagnosis of patients, but to understand the physiological effect of these mutations it is necessary to analyze what happens in the cells of the retina. (oullins-patriote.com)
  • While some genetic disorders, such as Down Syndrome, are caused by chromosomal anomalies, many are due to mutations in one or more genes. (polyplus-sartorius.com)
  • Marfany pointed out it is key to make a solid genetic diagnosis of patients and identify the gene that causes the disease. (modernretina.com)
Fundus4
  • The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. (scielo.br)
  • The fundus looks unremarkable in the patient with GUCY2D mutation. (gene.vision)
  • Fundus of a patient with LCA and GUCY2D mutations. (aao.org)
  • Right and left fundus photos of a young child with CRB1 mutations. (aao.org)
Abnormalities4
  • Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. (nih.gov)
  • and retinal vascular abnormalities. (msdmanuals.com)
  • Monitoring for retinal vascular abnormalities is essential to prevent blindness. (msdmanuals.com)
  • An estimated 90% of patients with early-onset agammaglobulinemia and absence of B cells have abnormalities in the Btk gene (ie, Bruton agammaglobulinemia or XLA). (medscape.com)
OMIM2
  • Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM). (wikipedia.org)
  • Genes involved (OMIM No. (gene.vision)
Zolgensma1
  • Two recently launched gene therapies (Luxturna® and Zolgensma®) are seeing early commercial success. (pharmexec.com)
PRPH23
  • 1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. (molvis.org)
  • her son harbored only the mutation in CRX , not the familial mutation in PRPH2 . (molvis.org)
  • Methods Retrospective case series of families harbouring bi-allelic PRPH2 mutations (2010-2014). (bmj.com)
Syndromic1
  • To date, 256 genes listed in RetNet have been associated with syndromic and non-syndromic retinal dystrophies, which can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait ( RetNet ). (molvis.org)
Progressive retinal1
Blindness5
Recessive8
  • This disorder is associated with autosomal recessive mutations in the KCNV2 and PDE6H genes. (wikipedia.org)
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
  • Recessive mutations included 6 truncating variants (3 nonsense and 3 frameshift), 4 splice site variants, and 1 missense variant. (ox.ac.uk)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • This test investigates if the dog carries the mutation in the BEST1 gene that has been described as cause for the disease Canine Multifocal Retinopathy 1 (cmr1) in mastiff-related breeds.The disease is inherited as an autosomal recessive characteristic and only occurs if the dog carries two mutated alleles. (generatio.de)
  • Dystrophy is a heterogeneous recessive disease and is estimated to affect 1 in 30,000- 81,000 individuals. (mycorneacare.com)
  • Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. (oru.se)
  • Most cases are agammaglobulinemia with autosomal recessive/dominant heritage and represent a very heterogeneous group, including immunoglobulin (Ig) deficiency with increased immunoglobulin M (hyper-IgM syndrome), which is also discussed separately (see X-linked Immunodeficiency With Hyper IgM ). (medscape.com)
IRDs2
Inherited retinal disease1
  • Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). (nature.com)
Onset1
  • This is the first reported case of the combination of RP with late-onset Stargardt's disease. (bvsalud.org)
Chromosome1
  • The human RP1L1 gene is encoded in four exons that span 50 kb on chromosome 8p. (molvis.org)
Retina7
  • Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. (upenn.edu)
  • X-linked retinoschisis (XLRS) is an inherited retinal disorder caused by mutations in the RS1 gene and characterized by a splitting of the neural retina which will eventually lead to decrease vision. (institut-vision.org)
  • That infects the retina and delivers the cargo of that virus into the retinal cells, in effect gene therapy. (cybersight.org.cn)
  • In advanced cases of LCA, retinal arterioles are attenuated reflecting the metabolic status of the retina. (mycorneacare.com)
  • How does the retina respond to light when the CERKL gene is missing? (oullins-patriote.com)
  • The retina is a neural tissue that is constantly subjected to light stress-and therefore oxidative stress-and retinal cells must activate antioxidant mechanisms to cope with it. (oullins-patriote.com)
  • The implant includes a small video camera, transmitter mounted on a pair of eyeglasses, video processing unit (VPU), and an implanted retinal prosthesis (artificial retina). (medscape.com)
BEST12
  • BEST1 (alias VMD2), the bestrophin gene causally associated with BMD, was evaluated in the dog. (upenn.edu)
  • Purpose: Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. (upenn.edu)
Optical coherence3
  • We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). (scielo.br)
  • Optical coherence tomography identified disrupted retinal lamination, outer-retinal debris, and an unidentifiable photoreceptor layer in two cases. (rphope.org)
  • 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)
Findings3
  • Here we describe ophthalmological findings in a patient with Kjellin's syndrome, extending previous reports by demonstrating retinal functional and multimodal retinal imaging studies. (scielo.br)
  • Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). (bvsalud.org)
  • All five available carrier parents had macular±peripheral retinal findings, although they considered themselves asymptomatic except for one mother who had developed visual loss in one eye at 48 years old and had an associated subfoveal lesion. (bmj.com)
Diseases5
  • Retinal dystrophies are a genetically and phenotypically heterogeneous collection of eye diseases disturbing the function of photoreceptor cells and subsequently leading to loss of vision. (molvis.org)
  • A disparate group of seemingly unrelated diseases with different affected organ systems has been attributed to lamin A/C mutations. (bmj.com)
  • Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
  • DelveInsight estimates that the Adeno-Associated Virus Vector-Based Gene Therapy Market, is anticipated to pick up momentum as companies across the globe are thoroughly working toward the development of new AAV-gene therapies to treat a spectrum of diseases. (technewspoint.com)
  • New York, USA) DelveInsight's Adeno-Associated Virus (AAV) Vector-Based Gene Therapy Market report offers a clear picture of the market position of the AAV vectors in the Gene therapy, emerging pipeline therapies, AAV vector-based Gene Therapy market share occupied by individual diseases, current and forecasted market share in the 7MM (the US, EU5 (the UK, Germany, France, Italy and Spain) and Japan) for the study period 2019-32. (technewspoint.com)
Disease23
  • With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. (molvis.org)
  • In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. (molvis.org)
  • Furthermore, this finding underscores that caution should be taken when attributing a single gene disease-causing mutation (or inheritance pattern) to a family as a whole. (molvis.org)
  • Identification of a disease-causing mutation in a proband, even with a clear inheritance pattern in hand, may not be sufficient for targeted, known mutation analysis in other family members. (molvis.org)
  • It was recently discovered, however, that the disease is not X-linked and is caused by mutations in the small nuclear RNA noncoding gene RNU4ATAC . (databasefootball.com)
  • To date, only ten cases from seven families have been reported with Roifman syndrome, although unreporting is expected, with most clinicians unaware of the disease. (databasefootball.com)
  • The RNU4ATAC gene that is mutated in Roifman patients is part of this minor splicing complex, with the symptoms of the disease being driven by errors introduced in the genes that need it. (databasefootball.com)
  • As the disease suddenly progressed in both eyes, pars plana vitrectomy with endolaser and silicone oil tamponade was performed in the better right eye which led to anatomical stabilization of the case without improvement in the visual acuity. (biomedcentral.com)
  • Doyne honeycomb macular disease, or dominant drusen, is the result of mutations in the EFEMP1 gene at 2p16 in the majority of cases. (arizona.edu)
  • This has implications for the development of treatments for this severely blinding disease, and adeno-associated viral vector-based gene therapy and optogenetics could become successful treatment options. (ox.ac.uk)
  • 17 Homozygosity for a single mutation (R527H) was found in all nine affected individuals, who also shared a common disease haplotype. (bmj.com)
  • We apply these systems to install putative protective mutations in vivo for Alzheimer's disease in astrocytes and for coronary artery disease in hepatocytes. (nature.com)
  • In some cases, these treatments may just help to prevent additional disease progression or vision loss. (healthline.com)
  • Two disease-specific sequence alterations were identified in the canine VMD2 gene: a C73T stop mutation in cmr1 and a G482A missense mutation in cmr2. (upenn.edu)
  • Today, the development pipeline has hundreds of gene therapies that work by "replacing a disease-causing gene or inserting a new or corrected gene or directly editing genome (in vitro) in patients. (pharmexec.com)
  • Some prominent gene therapies expected to enter the market soon includeBiomarin's Valoctocogene roxaparvovec (BMN270) for Hemophilia A and Bluebird Bio's Lentiglobin for Thalassemia & Sickle Cell Disease. (pharmexec.com)
  • Variation in disease presentation, severity and progression is typical, and is observed even within the same family or among individuals who carry the same mutation in the causative gene. (institut-vision.org)
  • The hallmark feature of the disease is foveal schisis (retinal splitting) though over time this may become less distinct. (institut-vision.org)
  • Although CNV is common in normal people, in some cases, due to chromosomal rearrangement, it can affect certain genes' expression, leading to disease development [2, 3]. (fortunepublish.com)
  • But knowing the patient's gene also helps us understand how the disease happens, how it works. (cybersight.org.cn)
  • Some of you may remember the case of Jesse Gelsinger, a patient at the University of Pennsylvania over a decade ago who got gene therapy for hepatic disease and subsequently died. (cybersight.org.cn)
  • Identifying the gene that causes the disease and its physiological function are the cornerstones for designing a precision or personalized therapy. (oullins-patriote.com)
  • He initiated and coordinated national (RD5000) and international (European Retinal Disease Consortium) collaborations in the IRD field. (stargardtsconnected.org.uk)
ABCA42
  • Biallelic mutations were found in ABCA4 and CNGA1 genes. (bvsalud.org)
  • He discovered hidden intronic mutations in the ABCA4 gene by sequencing >3.000 STGD1 probands and studied their effect on the RNA using in vitro splice assays and stem cell technology. (stargardtsconnected.org.uk)
Outer-retinal1
  • No outer retinal changes were visible outside areas with sub-RPE deposits. (escholarship.org)
CRB11
  • CRB1 mutant patients should be followed up closely as sudden progression can have permanent poor outcomes and as early management is vital in such cases. (biomedcentral.com)
Prevalence2
  • The prevalence of AS is estimated at 1-9 cases per million individuals, with approximately 950 reported cases [ 10 ]. (springer.com)
  • Based on data from Finland (where the highest prevalence has been reported, due to 3 founder mutations) and The Netherlands, the prevalence is estimated to be 1 in 15,000 to 1 in 30,000. (institut-vision.org)
Dominant2
  • Family 3 (FAM3) consisted of a large family with a diagnosis of RP and an overall dominant pedigree, but the proband had phenotypically cone-rod dystrophy. (molvis.org)
  • 1 n.p.) identified a dominant mutation in RP1 (p.Arg677Ter) that was present for two of the four affected individuals but absent in the proband and the presumed non-penetrant individual. (molvis.org)
Disorders2
  • Elucidating the function of the mutated gene, ALMS1 , is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. (springer.com)
  • SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). (nih.gov)
Phenotypic1
  • Phenotypic similarities to the retinal dysfunction associated with RPE-specific protein 65 kDa mutations, another visual cycle gene, suggest that LRAT deficiency may show a good response to novel therapies. (rphope.org)
Pigmentary2
  • Older individual (30s) with RDH12 mutations and a macular atrophic lesion, as well as attenuated blood vessels and peripheral pigmentary changes. (aao.org)
  • A retinal dystrophy belonging to the group of pigmentary retinopathies. (nih.gov)
Thoracic dystrophy3
  • V4, a novel missense variant, was in trans with V5, previously associated with Jeune asphyxiating thoracic dystrophy (JATD). (nature.com)
  • Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). (nih.gov)
  • Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. (nih.gov)
Decrease in visual acuity1
  • In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. (asperbio.com)
Visual acuity3
  • Ocular examination involves assessment of visual acuity and pupillary reaction, as well as anterior segment, retinal, and funduscopic evaluation. (medscape.com)
  • Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)
  • Low-luminance visual acuity and scotopic two-color threshold perimetry improved in pediatric cases, while scotopic blue full-field stimulus threshold testing improved in all ages, but especially with children. (reviewofoptometry.com)
Luxturna1
  • The Food and Drug Administration (FDA) approved a treatment in 2017 called Luxturna (voretigene neparvovec-rzyl) that delivers a replacement of the mutated gene directly to retinal tissues. (healthline.com)
Pathogenic1
20171
  • The first AAV-based gene therapy drug, Glybera, was approved by the European Medicines Agency (EMA) in 2012 but later in 2017, it was withdrawn from the market mainly due to commercial failure. (technewspoint.com)
Inheritance1
  • His team also identified a sex imbalance for a subgroup of STGD1 probands in which more females than males are affected, suggesting that one quarter of STGD1 cases are subject to polygenic or multifactorial inheritance. (stargardtsconnected.org.uk)
Different genes1
  • PIDs are genetically diverse, with mutations in many different genes capable of causing immunodeficiency . (databasefootball.com)
EFEMP13
  • The changed product of mutations in EFEMP1 diminishes the function of the EGFR with damage to the RPE and Bruch membrane. (arizona.edu)
  • Two related patients aged 30 and 60 years, with MLVT and identified c.R345W mutation in the EFEMP1 gene, were tested. (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)
Homozygous1
  • Results: APEX analysis identified one patient with a previously reported homozygous LRAT mutation. (rphope.org)