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Butterfly-Shaped Pattern Dystrophy
A Genetic, Clinical, and Histopathological Report
Kang Zhang, MD, PhD;
Daniel C. Garibaldi, MD;
Yang Li, MD;
W. Richard Green, MD;
Donald J. Zack, MD, PhD
Arch Ophthalmol. 2002;120:485-490.
Objectives To identify the disease-causing mutation in a large family segregating
dominantly inherited butterfly-shaped pattern dystrophy (BPD) and to describe
the microscopic pathological changes observed in a member of this family.
Methods Seventeen individuals at risk for dominantly inherited BPD in a family
were examined and blood samples obtained. Linkage analysis and mutation screening
of the human retinal degeneration slow (RDS)/peripherin locus were performed.
Light and electron microscopic examinations were performed on 1 postmortem
eye of 1 affected individual.
Results Four individuals demonstrated macular degenerative changes with diminished
visual acuity, and 3 others exhibited early signs of atrophy without visual
deficits. Microscopic examination of the left eye of 1 patient revealed an
area of total loss of the retinal pigment epithelium (RPE) and photoreceptor
cell layer with intact choriocapillaris and lipofuscin-containing cells in
the subretinal space. Outside the area of RPE atrophy, the RPE was greatly
distended by lipofuscin. The disease locus in this family was mapped to 6p21.2,
the region of the RDS/peripherin gene. Further analysis identified a G A
change at nucleotide position 637 of RDS/peripherin,
predicting a novel Cys213Tyr substitution in all affected members of the family.
Conclusions This study describes a new RDS/peripherin mutation for BPD and provides
the first combined genetic-pathological study of this condition, to our knowledge.
Clinical Relevance Accumulation of lipofuscin in RPE is a prominent feature of several
retinal disorders, including age-related macular degeneration. Further elucidation
of the cellular and molecular mechanism of BPD may provide insight into pathogenesis
and lead to novel treatment approaches for this and other macular degenerations.
From the Wilmer Eye Institute and the Departments of Ophthalmology
(Drs Zhang, Garibaldi, Li, Green, and Zack), Molecular Biology and Genetics,
and Neuroscience (Dr Zack), Johns Hopkins University School of Medicine, Baltimore,
Md. Dr Zhang is now with the Department of Ophthalmology and Visual Sciences,
Moran Eye Center, University of Utah School of Medicine, Salt Lake City. Dr
Li is now with Tong Reng Eye Hospital, Beijing, China.
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