Persistent hyperplastic primary vitreous in association with neurofibromatosis 2.
We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.
Nguyen
Dan Q
DQ
Musgrove Park Hospital Taunton, United Kingdom.
Chatterjee
Sudeshna
S
Bates
Richard
R
D000328:Adult; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia; D018445:Infectious Disease Transmission, Vertical; D008297:Male; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics*; D014822:Vitreous Body / Q000002:abnormalities* / Q000098:blood supply / Q000473:pathology*