Hereditary prosopagnosia (HPA): the first report outside the Caucasian population

Prosopagnosia (PA) or face blindness is characterized by a deficiency in identifying familiar faces. Almost all reports are single cases or collections of unrelated patients who acquired prosopagnosia after brain injuries, strokes or atrophy of at least the right occipito-temporal cortex. Until 2001, the inborn form - in the absence of any brain lesions - was described in fewer than 20 probands exclusively of Caucasian origin. We recently found that in the German Caucasian population, congenital prosopagnosia has a very high prevalence of at least 2.5% and that it is genetically determined. It is best described by autosomal-dominant inheritance in the more than 50 families investigated. We therefore introduced the term non-syndromic hereditary PA for the congenital form of a monosymptomatic or isolated PA. This surprisingly high frequency in the Caucasian population prompted us to extend our search to other ethnic groups. We performed a questionnaire-based screening among 198 native Indian students at Banaras Hindu University in Varanasi. In a then selected subset, we found after further detailed diagnostic interviews one Bengali female student with visual agnosia for face recognition only. Several other members of her large family reported the same impairment of face recognition. The segregation pattern of PA in this family is also compatible with autosomal-dominant inheritance.