Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports

Korean J Ophthalmol. 2024 Apr;38(2):164-166. doi: 10.3341/kjo.2023.0119. Epub 2024 Feb 14.

Authors

Hansol Park¹, Sungsoon Hwang^{1

2}, Sang Jin Kim¹

Affiliations

¹ Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
² Department of Clinical Research Design and Evaluation, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Seoul, Korea.

No abstract available

Publication types

Case Reports

MeSH terms

Eye Proteins / genetics
Female
Humans
Mutation
Pedigree
Retinitis Pigmentosa* / diagnosis
Retinitis Pigmentosa* / genetics

Substances

Eye Proteins
RPGR protein, human

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