[On several cases of the Leber type of familial congenital amaurosis associated with keratoconus, cataract and other skeletal and neuropsychiatric changes].
D000293:Adolescent; D002386:Cataract / Q000151:congenital*; D002648:Child; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008064:Lipidoses / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
Su alcuni casi familiari di amaurosi congenita tipo Leber, associata a cheratocono, cataratta, alterazioni scheletriche e neuro-psichiatriche.