isolated microphthalmia 5

Term ID

DOID:0060837

Synonyms

• 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. (3)

References

• ICD10CM:Q15.8
• OMIM:611040
• ORDO:251279

Ontology

Human Disease   ( DOID:0060837 )