Work

Macular dystrophy in Heimler syndrome

Year: 2011

Type: article

Abstract: PURPOSE: To describe the retinal imaging findings in the index patient with Heimler syndrome (OMIM #234580). DESIGN: Non-interventional case report. METHODS: A 29-year-old woman with Heimler syndrome developed bilateral vision loss. Fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and electroretinography (ERG) were performed to assess the retinal anatomy and function. RESULTS: FA showed mottling of the retinal pigment epithelium (RPE) in the posterior pole and periphery of the retina. FAF revealed hyper and hypoautofluorescent dots corresponding to the RPE mottling observed on FA. SD-OCT documented loss of the inner/outer segments boundary, and RPE thinning. ERG testing excluded generalized rod-cone dysfunction. CONCLUSION: We report an adult-onset macular dystrophy in one of the previously reported patients with Heimler syndrome and hypothesize that this syndrome is probably an expression of a ciliopathy.

Source: Ophthalmic Genetics

DOI: 10.3109/13816810.2010.551797

Authors: Luiz H. Lima, Irene A. Barbazetto, Royce Chen, Lawrence A. Yannuzzi, Stephen H. Tsang, Richard F. Spaide

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

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

Funder: National Eye Institute