RT Journal Article
T1 Corneal Fleck dystrophy in a Spanish family.
A1 Rocha-de-Lossada, Carlos
A1 Alba-Linero, Carmen
A1 Hernando-Ayala, Carlos
A1 Rodriguez-Calvo-de-Mora, Marina
K1 Glycosaminoglycans
K1 Pathogenesis, Homeopathic
K1 Corneal Stroma
AB 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.
PB Wolters Kluwer - Medknow Publications and Media
YR 2020
FD 2020
LK http://hdl.handle.net/10668/15405
UL http://hdl.handle.net/10668/15405
LA en
NO Rocha-de-Lossada C, Alba-Linero C, Hernando Ayala C, Rodriguez-Calvo-de-Mora M. Corneal Fleck dystrophy in a Spanish family. Indian J Ophthalmol. 2020 May;68(5):918
DS RISalud
RD Apr 8, 2025