Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2
Author:
Affiliation:
1. UCL Institute of Ophthalmology, University College London, London, UK
2. Genetics Department, Moorfields Eye Hospital, London, UK
3. Electrophysiology, Moorfields Eye Hospital, London, UK
4. Medical Imaging, Moorfields Eye Hospital, London, UK
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1605393
Reference5 articles.
1. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
2. Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
3. Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
4. SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA
5. Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene
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1. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-05
2. Retinal Imaging Findings in Inherited Retinal Diseases;Journal of Clinical Medicine;2024-04-03
3. RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping;American Journal of Ophthalmology;2024-02
4. Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022
5. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20
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