The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

This article presents a survey of the demographical, educational and visual functional characteristics of children attending a specialist paediatric low-vision assessment clinic at Manchester Royal Eye Hospital. Comprehensive data were collected retrospectively from children attending the paediatric low-vision clinic between January 2003 and…

Low vision children (ages 4-19, n=137) were screened, and 77 percent were advised to have comprehensive clinical evaluations or ophthalmology services. The visual capability of the referred children was determined, low vision aids were prescribed for 56 children, and the degree of successful utilization of aids was evaluated. (JDD)

Provided is a collection of presentations from a conference for ophthalmologists, optometrists, and educators meeting to exchange their concerns and share knowledge on various types of sensory handicaps of deaf blind children. The conference is seen as an introduction to the needs of deaf blind children and to the importance of stating diagnostic…