NDP-related retinopathies: clinical phenotype of female carriers.

ABSTRACT:

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 pathogenic NDP mutations were recruited. Clinical data were collected from the NDP carriers. Comprehensive ocular examinations, including best corrected visual acuity, slit lamp examination, fundus photography and fundus fluorescein angiography (FFA) were evaluated. Targeted gene or whole exome sequencing was performed in the probands, and Sanger seq

SUBMITTER: Huang L 

PROVIDER: S-EPMC10359507 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature