Early onset non-syndromic cataract
ORPHA:91492· ICD-10 Q12.0
Definition
A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal