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Fleck corneal dystrophy(CFD)

MedGen UID:
287065
Concept ID:
C1562113
Disease or Syndrome
Synonyms: CFD; CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED
SNOMED CT: Fleck corneal dystrophy (417183007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PIKFYVE (2q34)
 
Monarch Initiative: MONDO:0007376
OMIM®: 121850
Orphanet: ORPHA98970

Definition

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, the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans (summary by Kawasaki et al., 2012). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Speckled corneal dystrophy
MedGen UID:
867478
Concept ID:
C4021857
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFleck corneal dystrophy
Follow this link to review classifications for Fleck corneal dystrophy in Orphanet.

Recent clinical studies

Diagnosis

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ
Mol Vis 2015;21:1093-100. Epub 2015 Sep 17 PMID: 26396486Free PMC Article
Can E, Kan E, Akgün Hİ
Semin Ophthalmol 2013 Jul;28(4):239-41. Epub 2013 Apr 29 doi: 10.3109/08820538.2012.760629. PMID: 23627401
Kotoulas A, Kokotas H, Kopsidas K, Droutsas K, Grigoriadou M, Bajrami H, Schorderet DF, Petersen MB
Mol Vis 2011;17:2776-81. Epub 2011 Oct 25 PMID: 22065932Free PMC Article
Nicot AS, Laporte J
Traffic 2008 Aug;9(8):1240-9. Epub 2008 Apr 21 doi: 10.1111/j.1600-0854.2008.00754.x. PMID: 18429927Free PMC Article
Grupcheva CN, Malik TY, Craig JP, Sherwin T, McGhee CN
Clin Exp Ophthalmol 2001 Oct;29(5):281-5. doi: 10.1046/j.1442-9071.2001.00434.x. PMID: 11720152

Prognosis

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ
Mol Vis 2015;21:1093-100. Epub 2015 Sep 17 PMID: 26396486Free PMC Article

Clinical prediction guides

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ
Mol Vis 2015;21:1093-100. Epub 2015 Sep 17 PMID: 26396486Free PMC Article

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