Mutations in the PRPH2 gene cause adult-onset macular retinal dystrophy. However, it’s hard to tell which gene is affected. That means the exact cause is unknown.

These include autosomal dominant drusen, Sorsby fundus dystrophy, pachydrusen, late-onset Stargardt disease, extensive macular atrophy with pseudodrusen, pseudoxanthoma elasticum, North Carolina ...

Conditions linked to these abnormalities include retinitis pigmentosa, cone-rod dystrophy, macular diseases and third-branch disorders. The most identified gene mutation was in ABCA4.

Pedigree of the Kindred with Late-Onset, Slowly Progressive, Pseudohypertrophic Muscular Dystrophy. Clinical Features of Affected Members IV-6 (A.C.), born in 1927, was not examined.

MeiraGTx To Advance Gene Therapy For LCA4 Retinal Dystrophy With Positive Phase I/II Results February 21, 2025 ... Founded in the late 1990s by Andrew Mariathasan in New York, ...

Conditions linked to these abnormalities include retinitis pigmentosa, cone-rod dystrophy, macular diseases and third-branch disorders. The most identified gene mutation was in ABCA4.