Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

Purpose: To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene.

Methods: Review of 76 patients with the clinical diagnosis of Stargardt disease/fundus flavimaculatus (STGD/FF) from the University of Iowa Department of Ophthalmology and Visual Sciences (41 patients) and the Casey Eye Institute (35 patients). Clinical examination, Goldmann perimetry, and electroretinography were performed on all 76 patients.

Clinical phenotype as a prognostic factor in Stargardt disease.

Purpose: To determine the prognostic significance of widespread flecks, described as fundus flavimaculatus, in patients with Stargardt disease.

Design: Historical cohort study.

Subjects And Methods: Patients with Stargardt disease were identified by searching preexisting databases at the University of Iowa and Oregon Health Sciences University.

Electronegative electroretinogram in mucolipidosis IV.

Objective: To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV.

Methods: Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for characteristic ultrastructural inclusion bodies using light and electron microscopy.

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.

Objectives: To report the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at codon 23 (Pro23His).

Methods: We examined 6 patients within a single pedigree. The electroretinograms (ERGs) of 35 patients with known Pro23His mutations and of 22 healthy individuals were reviewed.

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

Purpose: To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region.

Methods: A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized. A genome-wide screen was conducted with a set of markers spaced at 10- to 15-cM intervals, and linkage was assessed using standard LOD score analysis.