A Family Affected by Novel C213W Mutation in PRPH2 : Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy
Author:
Publisher
SLACK, Inc.
Subject
Ophthalmology,Surgery
Reference22 articles.
1. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
2. Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects
3. Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the RDS/Peripherin Gene
4. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
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1. Macular neovascularization in inherited retinal diseases: A review;Survey of Ophthalmology;2024-01
2. Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review;BMJ Open Ophthalmology;2023-07
3. Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes;Diagnostics;2022-07-31
4. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20
5. Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant;Ophthalmic Genetics;2021-09-05
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