Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.

ABSTRACT:

Purpose

To evaluate the clinical, histopathologic, and genetic characteristics of a microphthalmia pedigree.

Methods

A five-generation Chinese family with microphthalmia was recruited. Clinical and histological examinations were performed in the affected patients and their family members. Cyrillic software was used to map the pedigree. Genomic DNA was extracted from peripheral blood, and linkage analysis was performed using short tandem repeat polymorphism markers. Two-point LOD scores were calculated using the MLINK program.

Results

Microphthalmia was inherited in an autosomal dominant manner in this family. All nine affected members had hyperopia (mean: +8.00 diopters) and physiologically reduced axis oculi (mean: 19.29 mm) with a visual acuity of less than 0.5. Ref

SUBMITTER: Yu C 

PROVIDER: S-EPMC2683027 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature