The great progress achieved in eye health in the recent forty years laid the foundation for further promoting the eye health in China. China is a developing country and is facing some challenges in eye health, including: with the huge population and aging, the number of age-related eye disease is increasing; China is still a country with the most blindness and moderated and severe visual impairment; the resource of the ophthalmic service is insufficient and maldistributed. The " Thirteenth Five-Year Plan” period is a key period and an opportunity period for the eye health. The central government pays more attention to the national health, including eye health, and proposes the goal of building a healthy China. That is a great opportunity for further promoting eye health. We should get to the points in promoting the eye health: people aged fifty or above are the priority population, rural and poverty areas and the mid and west regions are the priority areas, and cataract and uncorrected refractive error are the priority eye diseases.
Objective To make the diagnosis of a pedigree of X-linked congenital stational night blindness(CSNB) and to identify the disease-causing gene. Methods Clinical examination and family analysis were made. Venous blood was drawn from 5 affected and 16 unaffected individuals from the family. Genomic DNA was extracted. The locus of the candidate gene was mapped by linkage study. Mutation was screened by polymerase chain reaction (PCR) of the candidate gene exons and flanked introns. The PCR products are directly sequenced. The healthy people in and out of the family who were selected according to certain standards were as the control. Results A Chinese family with X-linked complete congenital stationary night blindness (CSNB1) was diagnosed. A missense mutation A772C (T258P) in exon 2 of NYX gene was identified in all affected patients and all female carriers were heterozygous. This mutation was neither found in normal family members nor among 110 unrelated normal controls. Conclusion A novel mutation of NYX gene with threonine to proline change is responsible for this Chinese CSNB1 family. (Chin J Ocul Fundus Dis, 2007, 23: 184-188)