Ihalainen A
Acta Ophthalmol Suppl (1985). 1986;178:1-64.
Clinical and epidemiological features of keratoconus (KC) were studied in a series comprising all the 212 KC patients treated at Oulu University Central Hospital from 1964 to 1984. Altogether 294 keratoconus patients and relatives were examined ophthalmologically by the author. The prevalence rate of KC 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 patients 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 patients coming from the area served by Oulu University Central Hospital. Familial KC 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 KC in the north is probably due to the more pronounced effect of gene pooling in the larger families (mean family size 4.9 persons 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 children were obtained from 159 families. 169 out of a total of 688 children were affected (25%). If families with only one child were excluded, then 47 of the 149 first children (32%) and 44 of the 149 second children (30%) had KC. 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 child affected, 27 keratoconic children 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 KC inside the family. Connective tissue symptoms and abnormalities were seen in 31 out of 46 KC patients (67%) and in 60 out of 122 first-degree relatives from the town of Oulu and its surroundings (49%).(ABSTRACT TRUNCATED AT 400 WORDS)
对1964年至1984年在奥卢大学中心医院接受治疗的212例圆锥角膜（KC）患者进行了临床和流行病学特征研究。作者共对294例圆锥角膜患者及其亲属进行了眼科检查。据估计，需要眼科护理的圆锥角膜患病率为0.03%（75/260,000）。年发病率为0.0015%（每20年75/260,000），在整个研究期间保持不变。62.7%（133例）患者为男性，37.3%（7例）为女性。73%的患者在症状出现时年龄为24岁或更小，男性首次检查时的平均年龄为26.5±8.2岁，女性为30.6±13.7岁。来自奥卢大学中心医院服务区域的144例患者中有65例接受了角膜移植。在芬兰北部调查的101个家庭中有19个（19%）发现有家族性圆锥角膜，南部58个家庭中有5个（9%）发现有家族性圆锥角膜。北部家族性圆锥角膜的发生率较高可能是由于大家庭中基因汇集的影响更为明显（平均家庭规模为4.9人，而南部为3.5人）。在28个多病例家庭中的24个（85%）中发现遗传方式为常染色体显性遗传，15例疾病由母亲遗传，9例由父亲遗传。从159个家庭中获得了圆锥角膜患儿的出生顺序数据。688名儿童中共有169名受影响（25%）。如果排除只有一个孩子的家庭，那么149个第一个孩子中有47个（32%）和149个第二个孩子中有44个（30%）患有圆锥角膜。因此，该疾病的特征是不完全外显率和可变表达性。对18个多病例家庭进行了122次HLA - A、B、C抗原分型，并将HLA基因型表示为单倍型。在15个有多个孩子受影响的家庭中，27名圆锥角膜患儿被发现与受影响的父母共享共同单倍型，而3名从健康父母那里遗传了共同单倍型（p<0.001）。因此，HLA单倍型可作为家庭内部圆锥角膜的一个标记。46例圆锥角膜患者中有31例（67%）以及奥卢镇及其周边地区122名一级亲属中有60例（49%）出现了结缔组织症状和异常。（摘要截短至400字）
