Leber's congenital amaurosis: current concepts of genotype-phenotype correlations
CH Huang, CM Yang, CH Yang, YC Hou, TC Chen - Genes, 2021 - mdpi.com
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …
PRPH2-associated Retinal Diseases: A Systematic Review of Phenotypic Findings
Purpose PRPH2-associated retinal diseases (PARD) result from pathogenic PRPH2
variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium …
variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium …
PRPH2-associated retinopathy: novel variants and genotype–phenotype correlations
L Bianco, A Arrigo, A Antropoli, A Saladino, I Spiga… - Ophthalmology …, 2023 - Elsevier
Purpose A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging
from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with …
from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with …
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease
MHCA Peeters, M Khan, AAMB Rooijakkers… - Human …, 2021 - Wiley Online Library
Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide
variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 …
variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 …
Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms
LK Holtes, SE de Bruijn, FPM Cremers… - Progress in Retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
M Soucy, M Kolesnikova, AH Kim, SH Tsang - Documenta …, 2023 - Springer
Introduction Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited
retinal dystrophies well known for their phenotypic diversity. We describe a novel …
retinal dystrophies well known for their phenotypic diversity. We describe a novel …
[HTML][HTML] Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan
Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the
gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the …
gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the …
Electrophysiological Evaluation of Macular Dystrophies
TK Chiang, M Yu - Journal of Clinical Medicine, 2023 - mdpi.com
Macular dystrophies are a heterogeneous group of genetic disorders that often severely
threatens the bilateral central vision of the affected patient. While advances in molecular …
threatens the bilateral central vision of the affected patient. While advances in molecular …
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Purpose To present the detailed retinal phenotype of patients with Leber Congenital
Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence …
Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence …
Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the
different findings observed among these patients make it difficult to establish a correct …
different findings observed among these patients make it difficult to establish a correct …