发育不全
医学
生物信息学
精密医学
医学遗传学
基因检测
青光眼
临床实习
基因组学
多学科方法
外显子组测序
神经科学
遗传异质性
眼前节
先天性畸形
发育障碍
梅德林
先天性疾病
自闭症
人类遗传学
全基因组关联研究
伯特症候群
遗传性疾病
作者
Bhawesh Chandra Saha,Bibhuti Prassan Sinha,Rashmi Kumari,Abhishek Onkar,Rajnee Sinha
标识
DOI:10.1177/11206721261436100
摘要
have broadened the known genetic spectrum. Genotype-phenotype correlations explain the variability in glaucoma onset and treatment response among subtypes. Modern diagnostic strategies integrating anterior segment imaging with next-generation sequencing have improved early detection and prognostic accuracy. Management requires individualized surgical and medical approaches based on the underlying genetic mechanism.ConclusionASD-associated glaucoma exemplifies the interface between developmental genetics and clinical ophthalmology. Understanding gene-specific mechanisms aids precision diagnosis, risk stratification, and multidisciplinary care. Continued advances in molecular diagnostics and targeted therapies promise to transform outcomes for children with congenital anterior segment anomalies. Collaborative registries and functional genomics will be pivotal in translating molecular discoveries into targeted therapies and improved lifelong vision outcomes.
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