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Related Experiment Video

Updated: Apr 17, 2026

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

Occult macular dystrophy.

Yozo Miyake¹, Kazushige Tsunoda

¹Aichi Medical University, Nagakute, Aichi, 480-1195, Japan.

Japanese Journal of Ophthalmology

|February 11, 2015

Summary

This summary is machine-generated.

Occult macular dystrophy (OMD) is a hereditary eye disease causing vision loss without visible fundus changes. Research reviews OMD

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Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Occult macular dystrophy (OMD) is a hereditary macular disease.
Characterized by progressive visual acuity decrease.
Normal fundus and fluorescein angiograms with normal full-field ERGs.

Purpose of the Study:

Review the history of OMD.
Summarize visual functions, ERG findings, OCT characteristics, and genetic findings.
Provide comprehensive overview of OMD.

Main Methods:

Psychophysical determination of visual functions.
Full-field, focal macular, and multifocal electroretinograms (ERGs).
Optical coherence tomography (OCT) for structural analysis.
Genetic analyses of OMD pedigrees and sporadic cases.

Main Results:

Retinal dysfunction confined to the macula.
Severely attenuated focal macular and multifocal ERGs.
OCT reveals structural changes in outer nuclear and/or photoreceptor layers.
Dominant RP1L1 gene mutations identified in OMD pedigrees.

Conclusions:

OMD presents with distinct electrophysiological and structural macula abnormalities.
RP1L1 gene mutations are linked to hereditary OMD.
Sporadic cases may involve other genetic factors.
Further research needed for sporadic OMD causes.