Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in <i>RP1</i>-Reference-Cited by-同舟云学术

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Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1

Published:2024-08-01 Issue:8 Volume:13 Page:2
ISSN:2164-2591
Container-title:Translational Vision Science & Technology
language:en
Short-container-title:Trans. Vis. Sci. Tech.

Author:

Choi Seung Woo¹,Woo Se Joon²,Kim Minji²,Lee Sejoon³,Joo Kwangsic²

Affiliation:

1. Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea

2. Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Republic of Korea

3. Precision Medicine Center, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Republic of Korea

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference19 articles.

1. Genotype–phenotype correlations in RP1-associated retinal dystrophies: a multi-center cohort study in JAPAN;Mizobuchi;J Clin Med,2021

2. Genetic mutation profiles in Korean patients with inherited retinal diseases;Kim;J Korean Med Sci,2019

3. Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa;Karali;Int J Mol Sci,2019

4. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy;Karali;Sci Rep,2022

5. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa;Bowne;Hum Mol Genet,1999

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