NDP-related retinopathies: clinical phenotype of female carriers.

doi:10.1136/bjophthalmol-2021-320084

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Article

NDP-related retinopathies: clinical phenotype of female carriers.

The British journal of ophthalmology - 1 Aug 2023

Huang Li, Sun Limei, Li Xiaoyu, Li Songshan, Zhang Ting, Zhang Zhaotian, Ding Xiaoyan

Abstract excerpt

BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characteristics of female carriers with NDP mutations. METHODS: Twelve female carriers from 11 unrelated families with...

Topics

Male
Female
Humans
Pedigree
Retinal Diseases
Retinal Degeneration
Phenotype
Familial Exudative Vitreoretinopathies
Mutation
Eye Diseases
DNA Mutational Analysis
Eye Proteins
Nerve Tissue Proteins

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Identifiers

PMID: 35361573
DOI: 10.1136/bjophthalmol-2021-320084
PMCID: PMC10359507

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