Cerulean cataract

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Cerulean cataract

ORPHA:98989Clinical subtype

Also called Blue-dot cataract

What it is

A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant
Classified as
Clinical subtype

Genes

CRYBB2Disease-causing germline mutation(s)
CRYGDDisease-causing germline mutation(s)
MAFDisease-causing germline mutation(s)
MIPDisease-causing germline mutation(s)

ICD-10 codes

Q12.0filed under a broader ICD-10 category — shared with 12 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.

Cross-references

GARD 9508MEDDRA 10090531MESH C537955MONDO 0020374OMIM 115660OMIM 614422UMLS C0344523

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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