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Speckled corneal dystrophy

MedGen UID:
867478
Concept ID:
C4021857
Disease or Syndrome
HPO: HP:0007962

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpeckled corneal dystrophy

Conditions with this feature

Fleck corneal dystrophy
MedGen UID:
287065
Concept ID:
C1562113
Disease or Syndrome
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).

Recent clinical studies

Diagnosis

Goldberg MF, Krimmer B, Sugar J, Sewell J, Wong P
Ann Ophthalmol 1977 Jul;9(7):889-96. PMID: 302662
Patten JT, Hyndiuk RA, Donaldson DD, Herman SJ, Ostler HB
Ann Ophthalmol 1976 Jan;8(1):25-32. PMID: 1082286

Prognosis

Patten JT, Hyndiuk RA, Donaldson DD, Herman SJ, Ostler HB
Ann Ophthalmol 1976 Jan;8(1):25-32. PMID: 1082286

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