Persistent hyperplastic primary vitreous with vertical transmission.
The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.
Lin
A E
AE
Department of Medical Genetics, West Penn Hospital, Pittsburgh, PA 15224.
Biglan
A W
AW
Garver
K L
KL
D000328:Adult; D005128:Eye Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006965:Hyperplasia / Q000151:congenital / Q000235:genetics; D007223:Infant; D008297:Male; D014822:Vitreous Body / Q000002:abnormalities*