Epithelial basement membrane dystrophy

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Epithelial basement membrane dystrophy

ORPHA:98956Disease

Also called Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy · EBMD · Map-dot-fingerprint dystrophy

What it is

A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.

Key facts

Inheritance
Autosomal dominant
Classified as
Disease

Gene

TGFBIDisease-causing germline mutation(s)

ICD-10 codes

H18.5filed under a broader ICD-10 category — shared with 25 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

GARD 9732MESH C535477MONDO 0007375OMIM 121820UMLS C0521723

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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