Sección: Choroidal and Retinal Dystrophies

Familial Exudative Vitreoretinopathy (FEVR)

Familial Exudative Vitreoretinopathy (FEVR) is a group of inherited retinal disorders characterized by abnormal retinal angiogenesis, leading to incom

Methylmalonic Acidemia with Homocystinuria Type CbLC

Methylmalonic acidemia with homocystinuria is a congenital error in metabolism, consisting of an inability to convert vitamin B12 (cobalamin) into its

Retinal dystrophy associated with mutation in the HK1 gene

Retinitis pigmentosa is a diffuse and hereditary retinal dystrophy that affects photoreceptors, initially rods and later cones (rod-cone dystrophy). T

X-linked juvenile retinoschisis

X-linked retinoschisis (XLRS) is a vitreoretinal degeneration caused by various mutations in the RS1 gene. It predominantly affects males and usually

Stargardt Disease

67-year-old woman who comes for a check-up. VA OD 20/100 OS 20/20. In the fundus of both eyes, yellowish deposits (flecks) are observed in the poste

Stargardt Disease

Currently, fundus flavimaculatus (FF) and Stargardt Disease (SD) are terms that can be used to name a heterogeneous group of hereditary retinal disord

Best Disease

A 38-year-old male presents with progressive vision loss over the past few months. VA OD 20/25 OS 20/25. Fundus examination reveals a bilateral macu

Best Vitelliform Macular Dystrophy

Best vitelliform macular dystrophy is a dystrophy that affects the retinal pigment epithelium, with autosomal dominant inheritance. The affectation is

Rod dystrophy secondary to PRPF31 mutation

Retinitis pigmentosa (also known as rod dystrophy) encompasses a group of clinically and genetically heterogeneous hereditary retinal disorders. It is