isolated microphthalmia 5

An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis an

An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Optic disc drusen
• Scleral thickening
• Foveoschisis
• Abnormal light- and dark-adapted electroretinogram
• High hypermetropia
• Microphthalmia
• Reduced visual acuity
• Optic disc pallor

Also known as: MCOP5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen