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choroideremia; progressive choroidal atrophy; progressive tapetochoroidal dystrophy

Progressive deterioration of the choroid. Epidemiology: generally males; occasionally females Pathology: 1) begins with peripheral pigmentary retinopathy 2) later, atrophy of the retinal pigment epithelium & of the choriocapillaris (choroid) 3) heterozygous females show a pigmentary retinopathy, but without visual defect or peripheral progression Genetics: 1) X-linked 2) mutation in rab escort protein-1 (REP1) gene on Xq - REP2 substitutes for REP1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP1 Clinical manifestations: 1) night blindness 2) progressive constriction of the visual fields 3) eventually, complete blindness

General

genetic disease of the eye X-linked disease

Database Correlations

OMIM 303100

References

  1. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
  2. OMIM :accession 303100