Chapter

Pattern Dystrophies of the RPE

Kean T. Oh

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0038

Series: Oxford Monographs on Medical Genetics

Pattern Dystrophies of the RPE

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In this era of molecular ophthalmology, pattern dystrophies primarily refer to RDS/peripherin-related diseases. However, the identification of a second disease-causing locus on chromosome 5 indicates that there must be genotypic heterogeneity for these conditions. Within the spectrum of peripherin/RDS pattern dystrophies, patients may present with a wide range of severity and clinical appearance even within a single extended family with the same disease-causing change, which suggests an association with other genetic modifiers. While the overall prognosis is fairly good, patients may present with CNV. Typically, CNV follows a less aggressive course than seen in other conditions, but case reports exist describing successful treatment.

Sjögren's reticular disease is a rare and distinct entity that has historically been addressed in conjunction with pattern dystrophies but shares only the similarities of a macular location of affectation and an interesting and characteristic “pattern”-like appearance clinically. The gene for Sjögren's reticular dystrophy remains to be identified. Its prognosis is relatively good, though CNV formation has been reported in these patients as well. When considering patients with reticular pigmentary changes, though, other clinically more common syndromes such as mitochondrial macular dystrophies associated with maternal diabetes and deafness should also be considered, especially from the standpoint of systemic disease intervention.

Chapter.  5158 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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