Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi.
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi.
J AAPOS. 2022 Jun;26(3):119.e1-119.e5. doi: 10.1016/j.jaapos.2022.01.010. Epub 2022 May 10.
To evaluate the severity of primary congenital glaucoma (PCG) among children born of consanguineous marriage.
In this case-control study, the medical records of unrelated consanguineous patients and unrelated nonconsanguineous (control) PCG patients seen at a single tertiary eye care facility were retrospectively reviewed. Those with a minimum of 5 years' follow-up were included. Data collected included age at presentation, corneal diameter, axial length, corneal haze at presentation and its persistence after surgery, need for repeat surgery, and final visual acuity.
A total of 130 PCG patients were included: 30 patients born of consanguineous marriage and 100 nonconsanguineous control patients. The median age of presentation for consanguineous cases was 3 months (range, 1-36) compared with 10 months (range, 2-24) for nonconsanguineous cases (P < 0.001). Mean corneal diameter for consanguineous cases was 13 ± 0.82 mm and for nonconsanguineous cases was 12.41mm ± 1.18 mm (P = 0.002). Consanguineous cases also had a significantly higher prevalence of corneal haze persisting after surgery (P < 0.001) and need for repeat IOP-lowering surgery (P = 0.039). The consanguineous group had 44 eyes (73%) with severe PCG compared with 69 (34.5%) in the nonconsanguineous group (P < 0.001).
In this study cohort, children with PCG born of consanguineous parents were more severely affected at presentation compared with children born of nonconsanguineous parents; they also had poorer outcomes with IOP-lowering surgery independent of severity at presentation. It is however possible that a founder effect with consanguinity over multiple generations could account for our observations.
评估近亲结婚所生孩子原发性先天性青光眼（PCG）的严重程度。
在这项病例对照研究中，回顾性分析了一家三级眼科医疗机构中无关近亲结婚患者和无关非近亲结婚（对照组）PCG 患者的病历。纳入至少随访 5 年的患者。收集的数据包括就诊时的年龄、角膜直径、眼轴长度、就诊时的角膜混浊程度及其术后持续时间、是否需要再次手术以及最终视力。
共纳入 130 例 PCG 患者：30 例近亲结婚患者和 100 例非近亲结婚对照组患者。近亲结婚病例的中位就诊年龄为 3 个月（范围，1-36 个月），而非近亲结婚对照组为 10 个月（范围，2-24 个月）（P＜0.001）。近亲结婚病例的平均角膜直径为 13±0.82mm，而非近亲结婚对照组为 12.41mm±1.18mm（P=0.002）。近亲结婚病例术后角膜混浊持续存在的比例明显更高（P＜0.001），需要再次降低眼压手术的比例也更高（P=0.039）。近亲结婚组有 44 只眼（73%）为重度 PCG，而非近亲结婚组有 69 只眼（34.5%）为重度 PCG（P＜0.001）。
在本研究队列中，与非近亲结婚所生孩子相比，近亲结婚所生孩子在就诊时病情更严重；在降低眼压手术后，他们的结果也更差，与就诊时的严重程度无关。然而，在多代近亲结婚中可能存在一个奠基者效应，这可以解释我们的观察结果。
