choroideremia; progressive choroidal atrophy; progressive tapetochoroidal dystrophy

Introduction

Progressive deterioration of the choroid.

Epidemiology

generally males; occasionally females

Pathology

• begins with peripheral pigmentary retinopathy
• later, atrophy of the retinal pigment epithelium & of the choriocapillaris (choroid)
• heterozygous females show a pigmentary retinopathy, but without visual defect or peripheral progression

Genetics

• X-linked
• 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

• night blindness
• progressive constriction of the visual fields
• eventually, complete blindness

More general terms

• genetic disease of the eye
• X-linked disease

Database

• OMIM: https://mirror.omim.org/entry/303100