Clinical diagnoses that overlap with choroideremia.
OBJECTIVE
To understand which clinical presentations suggest a diagnosis of choroideremia (CHM).


METHODS
Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequencing of the CHM gene could not confirm the diagnosis. Clinical presentation, family history and fundus photographs were reviewed.


RESULTS
We analyzed protein and DNA samples from members of more than 100 families in which at least 1 member had a clinical diagnosis of CHM. For 26 of these families, the clinical diagnosis of CHM could not be confirmed by laboratory analysis. Relevant clinical information was requested from the referring ophthalmologists so that alternative diagnoses could be considered. Sufficient information was provided for 13 of the 26 families. Four patients were reclassified as having retinitis pigmentosa (RP) from the clinical phenotype; only two clearly had X-linked inheritance. One patient had a syndrome including macular dystrophy, hearing loss, developmental delay and cerebral palsy. One patient was reclassified as having congenital stationary night blindness on the basis of an electronegative electroretinogram and a normal fundus. One patient had hearing loss suggesting Usher syndrome. One patient had signs consistent with cone-rod dystrophy (CRD). Five patients could not be reclassified on the basis of the clinical presentation.


CONCLUSIONS
RP, Usher syndrome and CRD are clinical phenotypes that may overlap with CHM. Clinical features that suggest CHM include severe chorioretinal atrophy with preservation of the macula, X-linked inheritance and retinal changes in a related female.
Lee
Thomas K M
TK
Department of Ophthalmology, University of Alberta, Edmonton, Alta.
McTaggart
Kerry E
KE
Sieving
Paul A
PA
Heckenlively
John R
JR
Levin
Alex V
AV
Greenberg
Jacquie
J
Weleber
Richard G
RG
Tong
Patrick Y
PY
Anhalt
Edward F
EF
Powell
Berkley R
BR
MacDonald
Ian M
IM
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D019883:Alkyl and Aryl Transferases; D002648:Child; D002675:Child, Preschool; D015794:Choroideremia / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D004247:DNA / Q000378:metabolism; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008499:Medical Records; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D020691:rab GTP-Binding Proteins / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D005136:Eye Proteins; D004247:DNA; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins