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Enrichment of Bruch's Membrane from Human Donor Eyes

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Published on: November 15, 2015

Macular dystrophy in Heimler syndrome.

Luiz H Lima¹, Irene A Barbazetto, Royce Chen

¹The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, NY, USA.

Ophthalmic Genetics

|March 4, 2011

Summary

This summary is machine-generated.

Heimler syndrome can cause adult-onset vision loss due to macular dystrophy. Retinal imaging reveals retinal pigment epithelium changes, suggesting a link to ciliopathies.

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Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Heimler syndrome (OMIM #234580) is a rare genetic disorder.
Ocular manifestations are not well-characterized.

Observation:

A 29-year-old woman with Heimler syndrome presented with bilateral vision loss.
Comprehensive retinal imaging, including fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), and electroretinography (ERG), was performed.

Findings:

FA revealed retinal pigment epithelium (RPE) mottling.
FAF showed corresponding hyper- and hypoautofluorescent dots.
SD-OCT demonstrated loss of the inner/outer segments boundary and RPE thinning.
ERG excluded generalized rod-cone dysfunction.

Implications:

This case highlights adult-onset macular dystrophy in Heimler syndrome.
The findings suggest Heimler syndrome may be a ciliopathy.
Further research into ocular manifestations of ciliopathies is warranted.