Abstract
Purpose: :
Mutation in GPR143 is responsible for ocular albinism type I (OA1, OMIM 300500). OA1 is rarely reported in Chinese and is potentially diagnosed as other diseases. Recognizing the genotype-phenotype characteristics of OA1 in Chinese may be of help in understanding this disease.
Methods: :
Mutations in GPR143 were identified and the associated clinical data were carefully reanalyzed.
Results: :
All patients had recognizable but atypical albinotic clinical signs indicating OA1 by careful observation. Such signs are atypical hypopigmentation or hyperpigmentation in iris, mild-to-moderate hypopigmentation on fundus, and macular/foveal hypoplasia.
Conclusions: :
OA1 in Chinese could be easily neglected and misdiagnosed as other diseases in clinic due to atypical clinical signs compared with Caucasian. Understanding these ethnic-specific clinical signs may help the clinical practice in Chinese population. (xyjia808@yahoo.com)
Keywords: genetics • iris • macula/fovea