Occult macular dystrophy

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Occult macular dystrophy

ORPHA:247834Disease

Also called Miyake disease · OCMD · OMD

What it is

Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Disease

Gene

RP1L1Disease-causing germline mutation(s)

ICD-10 codes

H35.5filed under a broader ICD-10 category — shared with 49 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0013316OMIM 613587UMLS C3150833

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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