Tomasić V, Svalba V, Svalba A, Stamenković M
Institute of Biology, School of Medicine, University of Rijeka, Croatia.
Acta Med Croatica. 1998;52(4-5):235-7.
On the Ucka hill-side, in the Veli Brgud village, Opatija County, Istrian peninsula, Republic of Croatia, there is a great number of patients with glaucoma simplex congenitum (open angle glaucoma) among a total of 550 Croatian inhabitants. Of these, 536 (97.5%) were ophthalmologically examined and glaucoma simplex congenitum was diagnosed in 74 persons, some of them already blind. The proportion of the affected was 13.8%. The cases were largely from the Afrić family (nicknamed "Sor"). The pedigree of the Afrić-"Sor" family has 1215 members through nine generations, descendants of Matheus Afrić (1762) and Marija Bratović (1765). In the total of 536 examined, 291 (54%) belong to this pedigree, whereas 67 (90%) out of 74 affected persons were of the same pedigree. The rest of 7 (9.46%) affected patients did not descend from this pedigree, however, three of them (4.05%) were also from the Afrić-"Sor" family, but we could not find a connection with that pedigree due to inadeguate marital data before 1760. In the Veli Brgud village, there also were 4 (5.41%) patients of non-Afrić families with no other affected members. From the total of 330 marriages, 73 (22%) were consanguineous. According to our results, the mode of inheritance of glaucoma simplex in the Afrić-"Sor" pedigree was of a dominant pattern.
在克罗地亚共和国伊斯特拉半岛奥帕蒂亚县韦利布尔古德村的乌茨卡山坡上，在总共550名克罗地亚居民中，有大量先天性单纯性青光眼（开角型青光眼）患者。其中，536人（97.5%）接受了眼科检查，74人被诊断为先天性单纯性青光眼，其中一些人已经失明。患病比例为13.8%。这些病例大多来自阿夫里奇家族（绰号“索尔”）。阿夫里奇-“索尔”家族的谱系经过九代有1215名成员，是马泰乌斯·阿夫里奇（1762年）和玛丽亚·布拉托维奇（1765年）的后代。在接受检查的536人中，291人（54%）属于这个谱系，而在74名患病者中，有67人（90%）来自同一个谱系。其余7名（9.46%）患病患者并非这个谱系的后代，不过其中三人（4.05%）也来自阿夫里奇-“索尔”家族，但由于1760年之前婚姻数据不足，我们无法找到与该谱系的联系。在韦利布尔古德村，还有4名（5.41%）非阿夫里奇家族的患者，他们没有其他患病成员。在总共330桩婚姻中，73桩（22%）是近亲结婚。根据我们的结果，阿夫里奇-“索尔”谱系中先天性单纯性青光眼的遗传模式是显性模式。
