OBJECTIVE: The authors report 22 cases of Alström syndrome (AS), which is the largest
series to date. Only 37 cases have been reported in the world literature since 1959. The …

Background/aim: Paediatric cataract is a major cause of childhood blindness. Several genes
associated with congenital and paediatric cataracts have been identified. The aim was to …

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital
cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation …

Clinical experience of 50 patients with the CHARGE association is reviewed and problems
with management of children born with multiple system involvement is highlighted. It was …

CHARGE association includes patients with at least four features prefixed by the letters of
the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and …

Three hundred and thirty-five eyes of 210 patients with congenital glaucoma due to
trabecular dysgenesis were treated by goniotomy as the primary procedure in infancy. In …

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by
congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental …

Aims: Mutations of seven crystallin genes have been shown to cause familial cataract. The
authors aimed to identify disease causing crystallin mutations in paediatric cataract families …

Mean ocular temperature measured using a hand‐held infrared thermometer was 36· 54° C
and 36· 38° C for the right and left eyes of 51 premature babies; whilst for 54 fullterm controls …

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with
incomplete penetrance | Journal of Medical Genetics Skip to main content Viewing from: Google …