Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

ABSTRACT:

Purpose

To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3.

Methods

This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and non-parametric statistical analyses were carried out.

Results

Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation. Best corrected visual acuity (BCVA) was poorer in patients with type 1 HPS than in patie

SUBMITTER: Jardon J 

PROVIDER: S-EPMC4232478 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature