Retinoschisis and Norrie disease: a missing link

Lack of association of the Norrie disease gene with retinoschisis phenotype.

PURPOSE It has been reported recently that mice carrying a disrupted Norrie disease gene produced alterations in the murine eye that are similar to congenital retinoschisis. Therefore, it was of interest to determine whether mutations in the Norrie disease gene can account for the disease in families with retinoschisis that do not carry mutations in the retinoschisis gene. METHODS The patient...

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

PURPOSE To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR,...

loving and humane care: a missing link in nursing

Leptin: the missing link in Alzheimer disease?

In Western societies, life expectancy is increasing steadily. As a consequence, more individuals are suffering from age-related disorders such as Alzheimer disease (AD). The prevalence of AD is predicted to rise rapidly in the coming decades, which is likely to pose a huge burden on healthcare services in the future. Although significant advances have been made in this field in recent years, ou...

Norrie disease and peripheral venous insufficiency

Norrie disease (ND) is a rare X linked recessive disorder in which affected males are blind at birth or in early infancy. About one third develop progressive sensorineural deafness. In addition, about 25% of affected males have varying degrees of developmental delay. The ocular findings include bilateral retinal folds, retinal detachment, vitreous haemorrhage, and bilateral retrolental masses c...