Autosomal dominant optic atrophy and…

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Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932Disease

What it is

A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Recorded for the broader condition

Prevalence
1-5 / 10 000 (Denmark)Autosomal dominant optic atrophy

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

ICD-10 codes

H47.2filed under a broader ICD-10 category — shared with 10 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 0016646UMLS C4273829

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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