Work

Unilateral Retinitis Pigmentosa: A Proposal of Genetic Pathogenic Mechanisms

Year: 2011

Type: article

Abstract: PURPOSE: To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis. METHODS: This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed. RESULTS: Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient. CONCLUSIONS: Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.

Source: European Journal of Ophthalmology

DOI: 10.5301/ejo.5000086

Authors: Marcela Marsiglia, Tobias Duncker, Enrico Peiretti, Scott E. Brodie, Stephen H. Tsang

Institutions: Manhattan Eye, Ear and Throat Hospital, Vitreous Retina Macula Consultants of New York, Columbia University, University of Cagliari, Mount Sinai Hospital

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green