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isolated microphthalmia 5
Summary
- Synonym
-
- MCOP5
- microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
- Definition
- 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.
- Super Class
- autosomal recessive disease isolated microphthalmia
External Links
- Disease Ontology
- DOID:0060837
- Mondo Disease Ontology
- ORDO
- OMIM
