Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases.

ABSTRACT:

Aim

To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases.

Methods

A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.

Results

The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved goo

SUBMITTER: Chen X 

PROVIDER: S-EPMC9318085 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature