|Year : 2020 | Volume
| Issue : 5 | Page : 918
Corneal Fleck dystrophy in a Spanish family
Carlos Rocha-de-Lossada, Carmen Alba-Linero, Carlos Hernando Ayala, Marina Rodriguez-Calvo-de-Mora
Regional University Hospital of Malaga, Plaza del Hospital Civil s/n, Málaga, Spain
|Date of Web Publication||20-Apr-2020|
Dr. Carlos Rocha-de-Lossada
Regional University Hospital of Malaga, Plaza del Hospital Civil s/n, Málaga
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
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;68:918
|How to cite this URL:|
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 [serial online] 2020 [cited 2020 May 28];68:918. Available from: http://www.ijo.in/text.asp?2020/68/5/918/282942
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 they were finally diagnosed with the PIKFYVE gene in heterozygosis, confirming the diagnosis [Figure 1].
|Figure 1: Composition of slit-lamp and anterior segment OCT showing the stromal flecks. Look at the circles and arrows, pointing to the flecks|
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To our knowledge, this is the first Spanish family with corneal fleck dystrophy reported in the literature.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Streeten BW, Falls HF. Hereditary fleck dystrophy of the cornea. Am J Ophthalmol 1961;51:275-8.
Assi A, Ebenezer N, Ficker L. Corneal fleck dystrophy in an English family. Br J Ophthalmol 1999;83:1407-8.