Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

ABSTRACT:

Aim

To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p.R41W).

Methods

Interrogation and ophthalmological examinations were undertaken in all patients and unaffected members. Analysis of clinical features was performed by visual acuity, slit lamp examination, visual field examination, fundoscopy, autofluorescence and spectral domain optical coherence tomography. Targeted next-generation sequencing was applied as a useful tool to identify the causative mutation of CORD genes.

Results

A CRX missense mutation c.121C>T was identified in all patients, resulting in an amino acid cha

SUBMITTER: Cui H 

PROVIDER: S-EPMC9729094 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature