Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2019.4959
Abstract: Key Points Question Is there evidence that the Pro50Leu substitution in guanylate cyclase activating protein-1 (encoded by the gene GUCA1A) is associated with a dominant retinal dystrophy? Findings In this cross-sectional study reevaluating the original… read more here.
Keywords: retinal dystrophy; pro50leu substitution; dominant retinal; substitution guanylate ... See more keywords
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.682
Abstract: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. read more here.
Keywords: individual carrying; novo missense; missense variant; retinal dystrophy ... See more keywords
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02284-1
Abstract: Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten… read more here.
Keywords: retinal dystrophy; stx3 variants; disease; microvillus inclusion ... See more keywords
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)
Sign Up to like & getrecommendations! Published in 2018 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-018-9665-7
Abstract: PurposeMutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound… read more here.
Keywords: non syndromic; syndromic retinal; cln3; retinal dystrophy ... See more keywords
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.09.024
Abstract: PURPOSE To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety… read more here.
Keywords: natural history; rpe65 mutation; inherited retinal; rpe65 ... See more keywords
CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2022.101444
Abstract: Purpose To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus. Observations We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the age… read more here.
Keywords: crb1 associated; self resolving; associated retinal; retinal dystrophy ... See more keywords
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.119
Abstract: Purpose:Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs).Methods:arrEYE contains probes for the… read more here.
Keywords: resolution; copy number; high resolution; known candidate ... See more keywords
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0495-0
Abstract: PurposeVariants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who present with symptoms compatible with STGD1/ABCA4 disease do not have identifiable causal… read more here.
Keywords: control collapsing; analysis; dystrophy; disease ... See more keywords
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1678178
Abstract: ABSTRACT Background/Objectives: To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory molecular tests. Materials and Methods:… read more here.
Keywords: dystrophy; retinal dystrophy; inherited retinal; family affected ... See more keywords
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.2023196
Abstract: ABSTRACT Background Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate… read more here.
Keywords: rcbtb1 variants; retinal dystrophy; later onset; atrophy ... See more keywords
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2025604
Abstract: ABSTRACT Background Autosomal-dominant cone-rod dystrophy 7 (CORD7) has been documented in association with RIM1 mutation (c.2459 G>A). We report a patient with retinal dystrophy who was heterozygous for RIM1 missense variant with a newly found… read more here.
Keywords: rim1; retinal dystrophy; rim1 mutation; mutation ... See more keywords