Dominant optic atrophy (DOA) orKjer's disease, caused by mutations in the OPA1 gene, is an autosomal dominant inherited pathology due to degeneration of retinal ganglion cells leading to loss of optic nerve axons. It manifests itself in atrophy of the optic nerve head, which, tog...
Best macular dystrophy, also called vitelliform macular dystrophy, is an autosomal dominant disease described by Frederick Best in 1905. It classically occurs in childhood and is characterized by macular deposits of vitelline material. We report the case of a 5-year-old female pa...
Birdshot chorioretinopathy is a well-known yet poorly studied form of posterior uveitis characterized by multiple, distinct, hypopigmented choroidal lesions and strongly associated with human leukocyte antigen (HLA)-A29. We report the case of a 54-year-old woman with no particula...