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OPHTHALMIC IMAGE
Year : 2020  |  Volume : 68  |  Issue : 5  |  Page : 918

Corneal Fleck dystrophy in a Spanish family


Regional University Hospital of Malaga, Plaza del Hospital Civil s/n, Málaga, Spain

Date of Web Publication20-Apr-2020

Correspondence Address:
Dr. Carlos Rocha-de-Lossada
Regional University Hospital of Malaga, Plaza del Hospital Civil s/n, Málaga
Spain
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1702_19

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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 Jun 4];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.[1],[2] In the pathogenesis, it is hypothesized that a hydrolytic enzyme deficiency of keratocytes is involved, leading to accumulation of mucopolysaccharides and intracellular lipids.[2]

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Streeten BW, Falls HF. Hereditary fleck dystrophy of the cornea. Am J Ophthalmol 1961;51:275-8.  Back to cited text no. 1
    
2.
Assi A, Ebenezer N, Ficker L. Corneal fleck dystrophy in an English family. Br J Ophthalmol 1999;83:1407-8.  Back to cited text no. 2
    


    Figures

  [Figure 1]



 

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