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Fleck corneal dystrophy

Diseases of the Eye and Adnexa

Fleck corneal dystrophy, also known as Francois-Neetens speckled corneal dystrophy, is a rare form of corneal dystrophy. It is caused by mutations in the PIKFYVE gene. Small opacities, some of which resemble flecks, are scattered in the stroma of the cornea, while other opacities look more like snowflakes or clouds. The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients. In a single case report a corneal transplantation was performed for a concurrent keratoconus, and at ten years of follow-up there was still no evidence of the inclusions in the stroma.

Facts
Classification
Body System
Eye 1
ICD-10 Chapter
VII: Diseases of the Eye and Adnexa 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 3
Sources
1. Fleck corneal dystrophy (Wikipedia)
  • Lead paragraph
    is a rare form of corneal dystrophy
  • Lead paragraph [causative-agent-category]
    It is caused by mutations in PIKFYVE gene.
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2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:98970 Fleck corneal dystrophy
Orphadata (Orphanet)ICD-10 cross-reference
Quote, ICD-10 cross-reference
"Reference": "H18.5", "Source": "ICD-10"
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3. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:98970 Fleck corneal dystrophy
Orphadata (Orphanet)Prevalence, Worldwide
Quote, Prevalence, Worldwide
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide"
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