New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders.

Changes in causes of low vision between 1988 and 2009 in a Dutch population of children.

PURPOSE: Causes of low vision in the Netherlands may have changed over time. The purpose of this study is to assess trends over the last two decades. METHODS: Socio-demographic and medical data, including ophthalmic diagnosis and inheritance patterns for 2843 children with low vision (0-21 years; 50% representation) referred to a Dutch institute for low vision (Bartiméus) over a 21-year period between 1988 and 2009, were included in the analysis. For the 19 most common diagnoses, inheritance and presence of mental impairment, trend analyses were performed with logistic regression models; odds ratios (OR) for a 10-year time span were reported. RESULTS: Cerebral visual impairment (CVI) was found in 27.2% (97% mental impairment), albinism in 8.0%. Over time, nystagmus (6.6%; OR = 1.42), retinitis pigmentosa (2.9%; OR = 1.61), cone-rod dystrophy (2.6%; OR = 1.98) and hyperopia (2.0%; OR = 3.66) increased significantly. Cataract (4.9%; OR = 0.64), aniridia (1.6%; OR = 0.42) and retinopathy of prematurity (ROP; 2.0%; OR = 0.45) decreased significantly. There was a significant increase in genetic disorders (41.0%; OR = 1.49) and in co-occurrence of mental impairment (52.2% OR = 1.16). CONCLUSION: In the last two decades, treatable or preventable disorders (such as cataract and ROP) have become a less common cause of low vision in children. However, the prevalence of complex (genetic) and untreatable disorders (CVI) has taken its place, as a result of increased survival of preterm and low birth weight children and improved diagnostic possibilities. Knowledge of the prevalence of low vision, its causes and trends over time may help policy makers to define effective intervention strategies and to monitor its impact.