MedGen

Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma. [from GeneReviews]

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. [from MONDO]

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. [from MONDO]

A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. [from MONDO]

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. [from HPO]