A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization

Vinit B Mahajan; Stephen R Russell; Edwin M Stone

doi:10.1001/archophthalmol.2009.210

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A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization

Journal article

Open access

Peer reviewed

A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization

Vinit B Mahajan, Stephen R Russell and Edwin M Stone

Archives of ophthalmology (1960), Vol.127(11), pp.1449-1457

11/2009

DOI: 10.1001/archophthalmol.2009.210

PMID: 19901210

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Abstract

To clinically phenotype an inherited macular dystrophy with peculiar intraretinal pigment spots, cysts, and hemorrhage in a 24-year-old female proband and her family. Extended family members of the proband underwent dilated fundus examination, optical coherence tomography, and, in selected cases, fluorescein angiography and electroretinography. Seventeen family members, representing 3 generations and ranging in age from 5 to 64 years, were clinically examined. Visual acuities ranged from 20/20 to 20/200. Amblyopia and strabismus were frequently present in affected individuals. Consistent with an autosomal dominant pattern of inheritance, 7 family members had multiple central macular cystic spaces and flat, round, densely pigmented spots within the retina. There were right-angle vessels and telangiectasis in the central macula. Two subjects showed evidence of active macular neovascularization with leakage on fluorescein angiography at ages 7 and 24 years, which was responsive to either focal laser or a single injection of bevacizumab. In those cases examined, multifocal electroretinography showed a diminished foveal response. This spotted cystic neovascular macular dystrophy appears to represent a new autosomal dominant retinal condition. Because these patients are at risk for choroidal neovascularization, identification of the responsible gene may provide insight into the mechanisms of pathological neovascularization.

Humans

Middle Aged

Child, Preschool

Male

Macular Degeneration - diagnosis

Retinal Vessels - abnormalities

Young Adult

Retinal Pigment Epithelium - pathology

Retinal Hemorrhage - diagnosis

Retinal Hemorrhage - genetics

Adult

Female

Retinal Neovascularization - genetics

Child

Fluorescein Angiography

Electroretinography

Retinal Neovascularization - diagnosis

Tomography, Optical Coherence

Strabismus - diagnosis

Visual Acuity

Amblyopia - diagnosis

Phenotype

Macular Degeneration - genetics

Pedigree

Adolescent

Cysts - genetics

Cysts - diagnosis

Details

Title: Subtitle: A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization
Creators: Vinit B Mahajan - Department of Ophthalmology and Visual Sciences, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242, USA
Stephen R Russell
Edwin M Stone
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.127(11), pp.1449-1457
DOI: 10.1001/archophthalmol.2009.210
PMID: 19901210
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: Howard Hughes Medical Institute
Language: English
Date published: 11/2009
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980286002771

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