Popa D P, Albu C C, Popescu L E
Clinica Oftalmologică, Spitalul Universitar Bucureşti.
Oftalmologia. 1998;42(1):26-30.
The study of a representative group of primary open-angle glaucoma patients from Eye Clinic, University Hospital, Bucharest, showed a hereditary transmission in 43.11% of cases. Isolated cases were in 56.88%. Genetic study of the affected families showed an autosomal dominant transmission of the disease in 58.33% of cases, an autosomal recessive in 38.88% of cases and in 2.77% of cases the study was unconvincing. Genetic prognosis elaborations in primary open-angle glaucoma and the calculation of the recurrence rate of the disease in offspring showed the following values: in primary open-angle glaucoma patients--autosomal dominant transmission--the recurrence risk of the disease was 1/2 (50%) in primary open-angle glaucoma patients--autosomal recessive transmission--the recurrence risk was 1/200 (0.5%) It is important to achieve a complete familial investigation for all primary open-angle glaucoma patients. On this basis is necessary to achieve and analyse the genealogical tree, to find out the kind of transmission of the disease, to detect the carriers of pathological gene (the heterozygotes), to calculate the recurrence risk of the disease in offspring, for an efficient prophylaxis of the disease.
对来自布加勒斯特大学医院眼科诊所的一组原发性开角型青光眼患者进行的研究表明，43.11%的病例存在遗传传递，56.88%为散发病例。对患病家庭的基因研究显示，58.33%的病例中疾病呈常染色体显性遗传，38.88%呈常染色体隐性遗传，2.77%的病例研究结果不明确。原发性开角型青光眼的遗传预后分析以及疾病在后代中的复发率计算得出以下结果：在原发性开角型青光眼患者中——常染色体显性遗传——疾病的复发风险为1/2（50%）；在原发性开角型青光眼患者中——常染色体隐性遗传——复发风险为1/200（0.5%）。对所有原发性开角型青光眼患者进行全面的家族调查非常重要。在此基础上，有必要绘制并分析家谱，以确定疾病的遗传类型，检测致病基因携带者（杂合子），计算疾病在后代中的复发风险，从而有效地预防该疾病。
