Gupta Viney, Markan Ashish, Somarajan Bindu I, Sihota Ramanjit, Gupta Amisha, Gupta Shikha, Sharma Arundhati
a Dr. Rajendra Prasad Centre for Ophthalmic Sciences , All India Institute of Medical Sciences , New Delhi , India.
b Department of Anatomy , All India Institute of Medical Sciences , New Delhi , India.
Ophthalmic Genet. 2018 Jan-Feb;39(1):63-67. doi: 10.1080/13816810.2017.1368088. Epub 2017 Sep 14.
To evaluate phenotypic differences among familial and non-familial JOAG patients.
First degree relatives of unrelated JOAG patients were screened for glaucoma and ocular hypertension. JOAG probands were grouped as familial or non-familial and phenotypic differences in terms of age of onset, gender, baseline untreated IOP, presence angle dysgenesis, and refractive error was compared between the two groups.
Out of 368 unrelated JOAG patients, 134 in whom all first degree relatives had been examined were included in the study. The non-familial JOAG (n = 96) had similar age of onset as familial JOAG (n = 38); (p = 0.076) but had greater male preponderance (p = 0.046), and had the higher baseline IOP (p = 0.044) compared to familial JOAG. However, on adjustment using the Bonferroni correction, the observed differences were not found to be significant. Both groups had similar proportion of patients with angle dysgenesis (p = 0.46) and high myopia (p = 0.72).
Non-familial JOAG were not found to be phenotypically different from the familial JOAG patients in this cohort.
评估家族性和非家族性开角型青光眼（JOAG）患者之间的表型差异。
对无血缘关系的JOAG患者的一级亲属进行青光眼和高眼压症筛查。将JOAG先证者分为家族性或非家族性，并比较两组在发病年龄、性别、基线未治疗眼压、房角发育异常情况和屈光不正方面的表型差异。
在368例无血缘关系的JOAG患者中，134例其所有一级亲属均已接受检查，被纳入研究。非家族性JOAG（n = 96）与家族性JOAG（n = 38）的发病年龄相似（p = 0.076）；但男性占比更高（p = 0.046），且与家族性JOAG相比基线眼压更高（p = 0.044）。然而，经Bonferroni校正后，观察到的差异无统计学意义。两组房角发育异常患者的比例相似（p = 0.46），高度近视患者的比例也相似（p = 0.72）。
在该队列中，未发现非家族性JOAG与家族性JOAG患者在表型上存在差异。
