Akkaya Sezen
Ophthalmology Department, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.
Med Hypothesis Discov Innov Ophthalmol. 2016 Winter;5(4):115-120.
We aimed to describe the causes, characteristics, and rate of parental consanguineous marriage associated with patients with visual impairments in Turkey. This study involved 236 patients with visual impairments. The 10th revision of the International Classification of Diseases was used to categorize the causes of visual impairments (based on the main cause in both eyes). The mean age of the patients was 38.5 ± 24.2 years (range, 6-95 years), and most were in the 15-30-year age group (35.6%). There were more male patients (65%) than female patients. Blindness, severe visual impairment, and mild to moderate visual impairment were observed in 30 (12.7%), 84 (35.6%), and 122 (51.6%) patients, respectively. Choroidal and retinal diseases were identified as the main underlying cause of visual impairment (62.7%), followed by nystagmus (23.7%), optic tract and nerve diseases (11.0%), congenital cataracts (0.8%), and glaucoma (1.7%). Parental consanguinity was present for 26.3% of the patients, and it was significantly more common in the 15-30-year age group (50%) compared to the other age groups. In Turkey, the main cause of visual impairment was choroid and retinal diseases in all the age groups above 14 years, while nystagmus was the most common cause in the age group below 15 years. Parental consanguinity was significantly higher among the patients with macular dystrophy and those with retinitis pigmentosa than with retinopathy of prematurity, optic nerve diseases, age-related macular degeneration, and diabetic retinopathy. Genetic factors are known to be involved in the development of these diseases, indicating that the issue of consanguineous marriage remains a problem in Turkey.
我们旨在描述与土耳其视力障碍患者相关的父母近亲结婚的原因、特征及比例。本研究纳入了236例视力障碍患者。采用《国际疾病分类》第10版对视力障碍的原因进行分类(基于双眼的主要病因)。患者的平均年龄为38.5±24.2岁(范围6 - 95岁),大多数患者年龄在15 - 30岁组(35.6%)。男性患者(65%)多于女性患者。分别有30例(12.7%)、84例(35.6%)和122例(51.6%)患者存在失明、严重视力障碍以及轻度至中度视力障碍。脉络膜和视网膜疾病被确定为视力障碍的主要潜在病因(62.7%),其次是眼球震颤(23.7%)、视束和神经疾病(11.0%)、先天性白内障(0.8%)以及青光眼(1.7%)。26.3%的患者存在父母近亲结婚情况,与其他年龄组相比,在15 - 30岁年龄组中近亲结婚更为常见(50%)。在土耳其,14岁以上所有年龄组中视力障碍的主要原因是脉络膜和视网膜疾病,而在15岁以下年龄组中眼球震颤是最常见的病因。黄斑营养不良和视网膜色素变性患者中父母近亲结婚的比例显著高于早产儿视网膜病变、视神经疾病、年龄相关性黄斑变性和糖尿病性视网膜病变患者。已知遗传因素与这些疾病的发生有关,这表明近亲结婚问题在土耳其仍然存在。