Clinical and epidemiological features of XXXX genetic and external factors in the pathogenesis of the disease.

@entity1 @entity854 @entity9042
Clinical and epidemiological features of @entity9042 ( @entity9042 ) were studied in a series comprising all the 212 @entity9042 @entity1 treated at Oulu University Central Hospital from 1964 to 1984. Altogether 294 @entity9042 @entity1 and relatives were examined ophthalmologically by the author. The prevalence rate of @entity9042 needing ophthalmic care was estimated to be 0.03% (75/260,000). The annual incidence was 0.0015% (75/260,000 per 20 years) and remained the same throughout the period studied. 62.7% (133) of the @entity1 were male and 37.3% (79) female. 73% were aged 24 years or younger at the onset of symptoms, the mean age of the males at the first examination being 26.5 +/- 8.2 years, and that of the females 30.6 +/- 13.7 years. Corneal transplantation was carried out on 65 of the 144 @entity1 coming from the area served by Oulu University Central Hospital. Familial @entity9042 was found in 19 of the 101 families investigated in the north of Finland (19%) and in 5 of the 58 from the south (9%). The higher frequency of familial @entity9042 in the north is probably due to the more pronounced effect of gene pooling in the larger families (mean family size 4.9 @entity1 as compared with 3.5 in the south). The inheritance was found to be attributable to a dominant autosomal mode in 24 out of 28 multiple-case families (85%), the disease being inherited from the mother in 15 cases and the father in 9. Data on the order of birth of keratoconic @entity1 were obtained from 159 families. 169 out of a total of 688 @entity1 were affected (25%). If families with only one @entity1 were excluded, then 47 of the 149 first @entity1 (32%) and 44 of the 149 second @entity1 (30%) had @entity9042 . Thus the disease is characterized by incomplete penetrance and variable expressivity. 122 HLA-A,B,C antigen typings were performed in 18 multiple-case families and the HLA genotypes expressed as haplotypes. In 15 families with more than one @entity1 affected, 27 keratoconic @entity1 were noted to share the mutual haplotype with the affected parent, whereas 3 had inherited the mutual haplotype from the healthy parent (p less than 0.001). The HLA haplotype could thus serve as a marker for @entity9042 inside the family. Connective tissue symptoms and @entity854 were seen in 31 out of 46 @entity9042 @entity1 (67%) and in 60 out of 122 first-degree relatives from the town of Oulu and its surroundings (49%).(ABSTRACT TRUNCATED AT 400 WORDS)
