Genotype-phenotype correlations for cataracts in neurofibromatosis 2

eurofibromatosis 2 (NF2) is an autosomal dominant disease that is caused by inactivating mutations of the NF2 tumour suppressor gene. 1 2 Multiple central and peripheral nervous system tumours and ocular abnormalities are common in NF2; bilateral vestibular schwannomas are pathognomonic for the disease. Genotype-phenotype correlations are well established for NF2 associated tumours. In general, constitutional nonsense or frameshift NF2 mutations are associated with severe NF2 (that is, earlier onset of symptoms and more tumours), splice site mutations with variable disease severity, and missense mutations with mild disease.