isolated microphthalmia 8

info · Eye · ICD-10: Q11.0

An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.

Signs and symptoms

Anophthalmia
Short palpebral fissure
Entropion
Optic nerve hypoplasia
Hypoplastic optic chiasm
Microphthalmia
Retinal detachment
Retinal coloboma
True anophthalmia

Also known as: MCOP8