Molecular and clinical characterization of albinism in a large cohort of Italian patients.

ABSTRACT:

Purpose

The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.

Methods

DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OCT), and fundus autofluorescence.

Results

Disease-causing mutations were identified in more t

SUBMITTER: Gargiulo A 

PROVIDER: S-EPMC3101674 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature