Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non-coding region was associated with only mild-regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full-term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long-term outcome.

IntroductionAs part of the development of a system for the screening of refractive error in Thai children, this study describes the accuracy and feasibility of establishing a program conducted by teachers.ObjectiveTo assess the accuracy and feasibility of screening by teachers.MethodsA cross-sectional descriptive and analytical study was conducted in 17 schools in four provinces representing four geographic regions in Thailand. A two-staged cluster sampling was employed to compare the detection rate of refractive error among eligible students between trained teachers and health professionals. Serial focus group discussions were held for teachers and parents in order to understand their attitude towards refractive error screening at schools and the potential success factors and barriers.ResultsThe detection rate of refractive error screening by teachers among pre-primary school children is relatively low (21%) for mild visual impairment but higher for moderate visual impairment (44%). The detection rate for primary school children is high for both levels of visual impairment (52% for mild and 74% for moderate). The focus group discussions reveal that both teachers and parents would benefit from further education regarding refractive errors and that the vast majority of teachers are willing to conduct a school-based screening program.ConclusionRefractive error screening by health professionals in pre-primary and primary school children is not currently implemented in Thailand due to resource limitations. However, evidence suggests that a refractive error screening program conducted in schools by teachers in the country is reasonable and feasible because the detection and treatment of refractive error in very young generations is important and the screening program can be implemented and conducted with relatively low costs.

Persistent hyperaesthesia of the infra-orbital nerve is another indication for exploration of the orbital floor following blunt orbital trauma.

We describe two Thai families with Norrie disease (ND) in three generations, including 10 affected males and one manifesting female. All affected males in each family had severely defective eye development with complete loss of vision. In addition, three male patients (one from family 1 and two from family 2) suffered from epilepsy, and one female carrier from one family manifested blindness with phthisis bulbi in her right eye. Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family. Other studies suggest that epileptic seizures or growth retardation that is associated with ND is the consequence of loss of contiguous genes, because most such patients had deletions extending beyond the Norrie locus. Our finding that the three affected males in the two families with the missense mutations had epilepsy does not support a contiguous gene effect, but favors the pleiotropism of NDP, at least as far as the epileptic manifestation is concerned. The unilateral blindness in the female carrier may have been due to non-random X-inactivation.