Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration

Christopher A Kuntz; Samuel G Jacobson; Artur V Cideciyan; Zong-Yi Li; Edwin M Stone; Daniel Possin; Ann H Milam

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Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration

Journal article

Peer reviewed

Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration

Christopher A Kuntz, Samuel G Jacobson, Artur V Cideciyan, Zong-Yi Li, Edwin M Stone, Daniel Possin and Ann H Milam

Investigative ophthalmology & visual science, Vol.37(9), pp.1772-1782

08/1996

PMID: 8759344

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Abstract

To determine the pathogenesis of an autosomal dominant late-onset retinal degeneration by studies of the retinal histopathology, phenotype of family members, and candidate genes for the disease. The retina from an 80-year-old patient donor was prepared for light and electron microscopy, including special stains and immunocytochemistry. Family members were examined clinically and with retinal function tests. Rhodopsin, peripherin/RDS, and TIMP3 genes were screened for mutations, and linkage analysis was performed with short tandem repeat polymorphisms flanking these genes. Affected family members had nyctalopia in the sixth decade of life and severe visual loss developed by the eighth decade. The donor retina showed marked loss of photoreceptors except in the inferior periphery. A thick layer of extracellular deposits was present between the RPE and Bruch's membrane in all retinal regions. A 70-year-old affected family member had a retinopathy resembling retinitis pigmentosa. Her 42-year-old daughter had a patch of punctate yellow-white lesions in one fundus and abnormal dark adaptation. The 50-year-old son of the donor had normal fundi but abnormal dark adaptation and electroretinography. No mutations were detected in the coding sequence of the rhodopsin, peripherin/RDS, and TIMP3 genes. Rhodopsin and TIMP3 were further excluded with linkage analysis. This novel retinal degeneration shares histopathologic and clinical features with both Sorsby fundus dystrophy and retinitis pigmentosa. The sub-RPE deposits may disrupt the exchange of nutrients and metabolites between the retina and the choriocapillaris, leading to photoreceptor dysfunction and degeneration.

Immunohistochemistry

Electroretinography

Retinal Degeneration - genetics

Humans

Middle Aged

Pigment Epithelium of Eye - physiopathology

Male

Retinal Degeneration - physiopathology

Microscopy, Electron

Visual Acuity

DNA - blood

Genes, Dominant

Pedigree

Age of Onset

Aged, 80 and over

Pigment Epithelium of Eye - pathology

Pigment Epithelium of Eye - ultrastructure

Adult

Female

Aged

Cornea - pathology

Retinal Degeneration - pathology

Details

Title: Subtitle: Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration
Creators: Christopher A Kuntz - Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA
Samuel G Jacobson
Artur V Cideciyan
Zong-Yi Li
Edwin M Stone
Daniel Possin
Ann H Milam
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.37(9), pp.1772-1782
PMID: 8759344
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: EY01730 / NEI NIH HHS EY05627 / NEI NIH HHS EY01311 / NEI NIH HHS
Language: English
Date published: 08/1996
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980392902771

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