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Japanese Journal of Ophthalmology
Published in: Japanese Journal of Ophthalmology 2/2015

01-03-2015 | Review

Occult macular dystrophy

Authors: Yozo Miyake, Kazushige Tsunoda

Published in: Japanese Journal of Ophthalmology | Issue 2/2015

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Abstract

Occult macular dystrophy (OMD) was first reported in 1989 as a hereditary macular disease without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity but have normal fundus and fluorescein angiograms with both the rod and cone components of the full-field electroretinograms (ERGs) essentially normal. However, the focal macular ERGs and multifocal ERGs are severely attenuated. These findings indicate that the retinal dysfunction is confined to the macula. Optical coherence tomography (OCT) has shown structural changes in the outer nuclear and/or photoreceptor layers. Genetic analyses of OMD pedigrees have identified dominant mutations in the RP1L1 gene. However, the same mutations were not detected in sporadic cases, suggesting that several independent mutations can lead to the OMD phenotype. The purpose of this paper is to review the history of OMD, the visual functions determined psychophysically, ERG findings, OCT characteristics and genetic findings in patients with OMD.
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Metadata
Title
Occult macular dystrophy
Authors
Yozo Miyake
Kazushige Tsunoda
Publication date
01-03-2015
Publisher
Springer Japan
Published in
Japanese Journal of Ophthalmology / Issue 2/2015
Print ISSN: 0021-5155
Electronic ISSN: 1613-2246
DOI
https://doi.org/10.1007/s10384-015-0371-7

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