Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T-->G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.

The rate of consanguineous mating in north Jordan was 63-7% with an average inbreeding coefficient of 00283. First cousin marriages were the most predominant type (58-5%); villagers showed higher levels than city dwellers. The level of female education did not influence consanguinity rate.

Nineteen patients with bilateral ectopia lentis and no other ocular abnormalities in two Arab families are described. The two family pedigrees demonstrate an autosomal recessive inheritance in contrast to the majority of reported family pedigrees with this condition which show dominant inheritance. The early onset of the condition, its natural course and its consequences on visual function are described.

One hundred and ninety four children with ocular injuries were admitted to the Eye Department at Ibn Sina Hospital, Kuwait during a 1-year period (1983). They represented 8.7% of total admissions and 56% of all ocular injuries admitted in the same period. These figures are higher than any previously reported figures in comparable series. The risk of severe ocular injury to children was found to be 0.35% per 1000 per year. There were 47 (24%) perforating injuries and 111 (57%) concussion injuries. Catapulted missiles were the commonest cause of injury (26%). Early presentation to hospital accounted for a low rate of secondary infection. Visual outcome of 6/12 or better was achieved in 78.5% of concussion injuries and 27.3% of perforating injuries. Education in organized school programmes has been recommended to reduce the incidence of ocular injuries in children.

To determine the most common causes of blindness and the age of onset of these conditions among Jordanians of Irbid, a study of all registered members in two societies for the care of the blind was carried out. Of all registered members, 185 individuals were blind according to the World Health Organization definition and satisfied our inclusion criteria. It was found that genetically determined causes made up 41% of the total causes. In 57% of the subjects, blindness occurred in the first two decades of life. The specific leading causes of blindness, in the order of their frequencies, were tapetoretinal degenerations as different variants of retinitis pigmentosa (17.6%), glaucomas (16%), diabetic retinopathy (13%), post-infection corneal scarring (11.5%), congenital cataract (8.8%) and uveitis (8%). The results reflect the satisfactory achievements in primary health care levels and the challenge to make specialized tertiary health care more accessible.