[Familial choroideremia--case report].
We present a case of familial choroideremia followed for several years in 3 successive generations and which represented a diagnostic challenge as the final diagnosis was provided only by genetic testing.
Stinghe
Alina
A
Ophthalmology Departement, Southampton General Hospital.
Lotery
Andrew J
AJ
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002648:Child; D015794:Choroideremia / Q000235:genetics*; D005220:Fathers; D005260:Female; D005654:Fundus Oculi; D020549:GTP Phosphohydrolase Activators; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D058609:Visual Field Tests
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D020549:GTP Phosphohydrolase Activators; D005819:Genetic Markers