syndromic microphthalmia 5

info · Eye

A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.

Signs and symptoms

Generalized hypotonia
Absent pituitary stalk
Thin corpus callosum
Nystagmus
Gonadotropin deficiency
High hypermetropia
Proportionate short stature
Macular atrophy
Undetectable visual evoked potentials
Diminished prolactin response to thyrotrophin-releasing hormone stimulation

Also known as: MCOPS5; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation