Helicoid Subretinal Fibrosis Associated With a Novel Recessive NR2E3 Mutation p.S44X
Author:
Publisher
American Medical Association (AMA)
Subject
Ophthalmology
Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
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. Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation;European Journal of Ophthalmology;2024-03-05
3. Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy;Ophthalmic Genetics;2022-03-21
4. In vivo analysis of onset and progression of retinal degeneration in the Nr2e3rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome;Scientific Reports;2021-09-24
5. Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome;Ophthalmology Retina;2021-09
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