Casos
Bergmeister papilla
The papilla of Bergmeister is a remnant of the fibrous sheath that covers the fetal hyaloid artery during embryonic development. Normally, this vessel
Oculocutaneous albinism
Albinism is a genetic disorder characterized by hypopigmentation, both cutaneous and ocular, due to impaired melanin biosynthesis. There are oculocuta
Maternally inherited diabetes and deafness (MIDD, Ballinger-Wallace syndrome)
Maternally inherited diabetes and deafness (MIDD) is a very rare form of diabetes with a mitochondrial inheritance pattern caused by the 3243A mutatio
Pseudoxanthoma Elasticum
The pseudoxant homa Elasticum is an inherited metabolic disease in which a ectopic mineralization in different areasorgans . The mutation of the
Torpedo maculopathy associated with choroidal neovascularization (CNV)
Torpedo maculopathy is a developmental macular disorder. It presents as an elongated, unilateral scar, mostly horizontal, with a whitish \"head.\" Bil
Multiple Evanescent White Dot Syndrome (MEWDS)
MEWDS is a rare entity of unknown etiology that typically affects young women. The most characteristic finding in the fundus is the presence of multip
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