isolated microphthalmia 6

An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous m

An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.

Signs and symptoms

• High hypermetropia
• Microphthalmia
• Retinal fold
• Scleral thickening
• Ocular hypertension
• Amblyopia
• Microcornea

Also known as: MCOP6; posterior nonsyndromic microphthalmia