Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene-Reference-Cited by-同舟云学术

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Published:2019-07-18 Issue:3 Volume:34 Page:499-506
ISSN:0950-222X
Container-title:Eye
language:en
Short-container-title:Eye

Author:

Subirà Olaia,Català-Mora Jaume,Díaz-Cascajosa Jesús,Padrón-Pérez Noel,Claveria M. A.,Coll-Alsina Natalia,Bonnet Crystel,Petit Christine,Caminal J. M.,Prat Joan

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

http://www.nature.com/articles/s41433-019-0536-6.pdf

Reference18 articles.

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2. Boughman JA, Vernon MSK. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595–603.

3. Narayan DS, Wood JPM, Chidlow G, Casson RJ. A review of the mechanisms of cone degeneration in retinitis pigmentosa. Acta Ophthalmol. 2016;94:748–54.

4. Cuenca N, Ortuño-Lizarán I, Pinilla I. Cellular characterization of OCT and outer retinal bands using specific immunohistochemistry markers and clinical implications. Ophthalmology. 2018;125:407–22.

5. Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, et al. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet. 2016;24:1730–8.

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3. Usher syndrome: Genetic diagnosis and current therapeutic approaches;World Journal of Otorhinolaryngology;2024-01-19

4. Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies;European Journal of Ophthalmology;2022-11-01

5. Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives;International Ophthalmology Clinics;2021