Purpose To investigate the influence of ethnic origin on the incidence of keratoconus and the association of atopic diseases in patients with keratoconus. Methods Retrospective study of new patients referred to Dewsbury District General Hospital and diagnosed with keratoconus in a 6-year period between 1994 and 2000. The ethnic origin of the patient was defined as white, Asian, or other. Incidence was calculated from the catchment population of 176 774 (82% white people, 17% Asians, 1% others). t-Test, confidence intervals and v 2 tests were used to show statistical significance. Results A total of 74 cases of keratoconus were diagnosed over this period. Of these patients 29 (39%) were white and 45 (61%) were Asian. This equated to an incidence of keratoconus of 25 per 100 000 (1 in 4000) per year for Asians, compared with 3.3 per 100 000 (1 in 30 000) per year for white people (Po0.001). Asians presented significantly younger than white patients. The incidence of atopic disease was found to be significantly higher in white compared to Asian keratoconic patients. Conclusions Asians were significantly more likely to present with keratoconus. The Asian patients were mostly of Northern Pakistani origin. This community has a tradition of consanguineous, especially first-cousin marriages. The higher incidence in this population was highly suggestive of a genetic factor being significant in the aetiology. The incidence was higher than revealed by previous studies. Atopic disease was significantly less common in Asians compared to white people, supporting the theory of a different aetiology in these patients.

The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique in a pilot national program. The study was performed on the island of Cyprus, which provides ideal conditions for maximizing the prevention rate due to the small size of the country, the well-defined population, and the high degree of awareness of the public concerning genetic diseases. Guthrie spots were obtained through the national screening center for phenylketonuria and congenital hypothyroidism. The bioluminescence method for measuring creatine kinase (CK) in dried blood spots was adapted for use in a semiquantitative way. During the first 6 years of the program (1992-1997), we screened 30,014 samples and found 43 with initially high CK values. We were able to obtain repeat specimens in 35 cases. Of the repeat samples, 30 were found to have normal activity, giving a false-positive rate of 0.10%. Five boys had persistent CK elevations and were confirmed to be DMD or Becker (BMD) cases by DNA analysis and/or dystrophin analysis. The semiquantitative application of the bioluminescence assay of CK that we have introduced has proved to be a fast and reliable method for screening large numbers of samples for DMD. It has a low rate of false positives, which compares favorably with that of other DMD screening programs. Although it is early to evaluate its impact fully, the program seems to be bringing about the anticipated benefits to affected families.

MethodsAll cases of newly diagnosed keratoconus patients seen in the Ophthalmology Department between September 1997 and December 2001 were analysed retrospectively using the videokeratography database. This included the vast majority of cases of keratoconus seen in the department during the analysed periodFthe clinical diagnosis on presentation was made by an ophthalmologist.BRI is the only ophthalmology service in the city of Bradford (catchment population of 470 000) and receives all GP or optician (via GP) referrals of this type.According to Census 2001, the ethnic background of population in Bradford is white 93.48%, Asian 4.49%, black 0.5%, Chinese 0.25%, and others 1.18%. The ethnic groups in the Asian population in Bradford are Pakistani (87%), Indian (7.3%), and Bangladeshi (5.7%).The proportion of population other than white and Asian (ie 1.93%) was considered negligible for the purpose of this study.Normally distributed data were analysed using Student's t-test for unpaired groups of patients. A significance level of o5% was chosen in all tests. Data are presented as mean7standard deviation.

The incidence of newly diagnosed T1DM cases has increased during 2000-2004. A seasonal variation during the first and second 5-yr periods was no longer observed in the third 5-yr period.

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