| 释义 |
neurofibromatosis type neurofibromatosis type 2An autosomal dominant inherited disease with a gene locus at 22q12 characterized by bilateral acoustic neuromas, meningioma, glioma and Schwannoma. Ocular manifestations are juvenile cataract and hamartoma (benign tumour-like nodules) of the retina and retinal pigment epithelium. It is much less common than neurofibromatosis type 1 (von Recklinghausen's disease). See congenital hypertrophy of the retinal pigment epithelium. |