Fleck corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED FLECK CORNEAL DYSTROPHY FCD CFD François-Neetens speckled corneal dystrophy |
| Number of Symptoms | 5 |
| OrphanetNr: | 98970 |
| OMIM Id: |
121850
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| ICD-10: |
H18.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Stromal corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0007962) | Speckled corneal dystrophy | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Minor photophobia | 1 / 7739 | ||||
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(OMIM) | Normal vision | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, ... |
| Clinical Description OMIM |
Francois and Neetens (1957) described an autosomal dominant stromal dystrophy of the cornea characterized by scattered tiny white flecks occurring at all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Others (e.g., ... |
| Molecular genetics OMIM |
Li et al. (2005) performed sequence analysis of the PIKFYVE gene (609414) and identified missense, frameshift, and/or protein-truncating mutations in 8 of 10 families with CFD studied. The protein encoded by PIKFYVE is a member of the phosphoinositide ... |