Rare isolated myopia

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Rare isolated myopia

ORPHA:98619Disease

What it is

Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.

Key facts

Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Genes

LRPAP1Disease-causing germline mutation(s) (loss of function)
P3H2Disease-causing germline mutation(s)
SCO2Disease-causing germline mutation(s)
SLC39A5Disease-causing germline mutation(s)

ICD-10 codes

H52.1filed under a broader ICD-10 category

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 0020207OMIM 608908OMIM 614292OMIM 615431OMIM 615946UMLS C4751232

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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