Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

ABSTRACT:

Purpose

The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6.

Methods

Patients diagnosed with congenital microcephaly and chorioretinopathy or FEVR were included. Molecular investigations consisted of targeted genetic sequencing. Data from medical records, ophthalmologic examination and imaging, electroretinography, and visual fields were analyzed for systemic and ophthalmic features and evidence of posterior segment disease progression.

Results

Twelve patients from 9 families were included and had a median of 8 years of follow-up. Nine patients had KIF11 variants, two had

SUBMITTER: Shurygina MF 

PROVIDER: S-EPMC7645200 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature