Clinical diagnoses that overlap with choroideremia

Purpose: 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 I 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. Conclusion: 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. Objet : Compréhension des données cliniques suggérant un diagnostic de choroïdérémie (CHM). Méthodes : Étude rétrospective des dossiers médicaux de patients chez lesquels on avait diagnostiqué une CHM sans cependant pouvoir le confirmer par l'analyse des protéines ni le séquençage direct du gène en question. Examen des données cliniques, des antécédents familiaux et des photographies du fond de l'œil. Résultats : Nous avons analysé des échantillons de protéines et d'ADN d'autres membres de plus de 100 families dont au moins I des membres avait reçu un diagnostic clinique de CHM. Chez 26 d'entre elles, le diagnostic n'a pu être confirmé par les analyses de laboratoire. Nous avons demandé aux ophtalmologistes concernés de l'information clinique pertinente qui aurait permis d'effectuer d'autres diagnostics e