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Punctate corneal dystrophy

MedGen UID:
870352
Concept ID:
C4024796
Anatomical Abnormality
HPO: HP:0007809

Term Hierarchy

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

Conditions with this feature

Groenouw corneal dystrophy type I
MedGen UID:
351521
Concept ID:
C1641846
Disease or Syndrome
Groenouw type I, or granular type I, corneal dystrophy (CDGG1) is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994).

Recent clinical studies

Diagnosis

Byers PH, Holbrook KA, Hall JG, Bornstein P, Chandler JW
Hum Genet 1978 Jan 19;40(2):157-69. doi: 10.1007/BF00272296. PMID: 414988

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