%0 Journal Article
%A Rocha-de-Lossada, Carlos
%A Alba-Linero, Carmen
%A Hernando-Ayala, Carlos
%A Rodriguez-Calvo-de-Mora, Marina
%T Corneal Fleck dystrophy in a Spanish family.
%D 2020
%U http://hdl.handle.net/10668/15405
%X Corneal fleck dystrophy is an unusual, asymptomatic, autosomal dominant condition. In the pathogenesis, it is hypothesized that a hydrolytic enzyme deficiency of keratocytes is involved, leading to accumulation of mucopolysaccharides and intracellular lipids. We present an asymptomatic family, mother and daughter, who showed small, bilateral, translucent flecks, scattered throughout the whole corneal stroma without a defined pattern. Due to the suspicion of a mottled dystrophy, they were referred to the Genetics department and were finally diagnosed with the PIKFYVE gene in heterozygosis, confirming the diagnosis [Fig. 1]. To our knowledge, this is the first Spanish family with corneal fleck dystrophy reported in the literature.
%K Glycosaminoglycans
%K Pathogenesis, Homeopathic
%K Corneal Stroma
%~