PDF(Pubmed)
Abstract：
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.
摘要：
单基因综合征常以眼部表现为特征，其中之一是青光眼。在许多情况下,儿童青光眼可能未被发现，特别是那些有其他严重的全身状况，影响眼睛和身体的其他部位。同样，青光眼可能是全身性综合征的第一个表现。因此，对与青光眼相关的综合征的认识对于医学遗传学家和眼科医生都至关重要。在这次审查中,我们重点介绍了以青光眼和其他眼部或全身表现为特征的六类疾病：眼前节发育不全综合征，无虹膜,代谢紊乱，胶原/血管疾病，免疫遗传学疾病，和纳米眼球。遗传学,眼部和全身特征，并讨论了当前和未来的治疗策略。罕见疾病的发现还揭示了可能与更常见形式的青光眼有关的重要基因和途径，以及针对这些途径的潜在新治疗策略。
