From the University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Aravind Eye Hospital, Pondicherry, India.
Am J Ophthalmol. 2021 Oct;230:188-199. doi: 10.1016/j.ajo.2021.04.038. Epub 2021 May 13.
To estimate the heritability of ocular biometric and anterior chamber morphologic parameters and to determine predictors of angle closure concordance in South Indian probands with angle closure and their siblings DESIGN: Prospective observational cohort study METHODS: Subjects received a standardized ophthalmic examination, A-scan ultrasonography, pachymetry, and anterior segment optical coherence tomography (ASOCT) imaging. Heritability was calculated using residual correlation coefficients adjusted for age, sex, and home setting. Concordant sibling pairs were defined as both proband and sibling with angle closure. Predictors of angle closure concordance among siblings were calculated using multivariable logistic regression models.
A total of 345 sibling pairs participated. All anterior chamber parameters were highly heritable (P < .001 for all). Similarly, all iris parameters, axial length, lens thickness (LT), central corneal thickness, anterior lens curvature, lens vault (LV), spherical equivalent, and intraocular pressure were moderately to highly heritable (P < .004 for all). LV and LT were more heritable among concordant siblings (P < .05 for both). In contrast, ASOCT angle parameters had statistically insignificant heritability estimates. In multivariable analyses, siblings older than their probands were more likely to be concordant for angle closure (OR 1.05, 95% CI 1.01, 1.09; P = .02) and siblings with deeper anterior chamber depths (ACDs) compared to their proband were less likely to be concordant for angle closure (OR 0.74, 95% CI 0.64, 0.86; P < .001).
Iris, anterior chamber, and lens parameters may be heritable whereas angle parameters were not. LT and LV may play important roles in the pathogenesis of angle closure. Siblings who are older or have a shallower ACD may need more careful disease monitoring.
估计眼生物测量和前房形态参数的遗传性,并确定印度南部闭角型青光眼患者及其兄弟姐妹中闭角型青光眼一致性的预测因子。
前瞻性观察队列研究。
受检者接受标准眼科检查、A 型超声扫描、角膜厚度测量和眼前节光学相干断层扫描(ASOCT)成像。采用调整年龄、性别和家庭环境的剩余相关系数来计算遗传性。将具有闭角型青光眼的先证者和兄弟姐妹均诊断为闭角型青光眼的同胞对定义为一致的同胞对。使用多变量逻辑回归模型计算兄弟姐妹中闭角型青光眼一致性的预测因子。
共有 345 对同胞参与研究。所有前房参数的遗传性均很高(所有参数 P <.001)。同样,所有虹膜参数、眼轴长度、晶状体厚度(LT)、中央角膜厚度、前晶状体曲率、晶状体拱高(LV)、等效球镜和眼内压的遗传性也为中度至高度(所有参数 P <.004)。LV 和 LT 在一致的同胞中遗传性更高(两者 P <.05)。相比之下,ASOCT 角参数的遗传估计值具有统计学意义。在多变量分析中,年龄大于先证者的兄弟姐妹更有可能出现闭角型青光眼的一致性(OR 1.05,95%CI 1.01,1.09;P =.02),并且与先证者相比,前房深度(ACD)较深的兄弟姐妹更不可能出现闭角型青光眼的一致性(OR 0.74,95%CI 0.64,0.86;P <.001)。
虹膜、前房和晶状体参数可能具有遗传性,而角度参数则没有。LT 和 LV 可能在闭角型青光眼的发病机制中起重要作用。年龄较大或 ACD 较浅的兄弟姐妹可能需要更仔细的疾病监测。