Pathobiology of the crystalline lens in Stickler syndrome

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research Pub Date : 2024-09-29 DOI:10.1016/j.preteyeres.2024.101304

Martin P. Snead , Frank J. Lovicu , Thomas RW. Nixon , Allan J. Richards , Howard Martin

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Abstract

Purpose

The Stickler syndromes are a group of connective tissue disorders characterised by congenital myopia, giant retinal tear and retinal detachment, cleft palate, hearing loss and premature arthropathy. Patients with Stickler syndrome are also susceptible to abnormalities of the crystalline lens. Since neither type II or type XI collagen (those typically affected in the vast majority of Stickler patients) are highly expressed in the lens, this observational cohort study explores potential alternative mechanisms to explain why patients frequently exhibit such unusual but characteristic types of cataract.

Methods

Author observations drawn from a cohort of over 1800 patients with genetically confirmed Stickler syndrome.

Results

3 distinct lens pathologies were identified. Firstly, a congenital quadrantic lamellar opacity. This can be present in both type 1 (COL2A1) and type 2 (COL11A1) Stickler syndrome. Secondly, early onset Pantone 557 C blue-green nuclear cataract. Thirdly, congenital lens coloboma associated with localised zonule deficiency.

Conclusions

The characteristic quadrantic lamellar lens opacity can be helpful in alerting to the possible diagnosis, particularly in sub-groups with an ocular-only phenotype.

Temporal and spatial signalling pathways shared embryologically by both the developing vitreous body and crystalline lens suggest an ancillary role of the fibrillar collagens in cell signalling beyond their basic structural function. A common pathway of TGFβ/BMP super-family dysregulation may be shared with allied disorders associated with both retinal detachment and cataract as well as the pathobiology linking retinal detachment and cataract in the population at large.

Congenital lens coloboma associated with localised zonule deficiency can increase the difficulty and risks of cataract surgery. Strategies to mitigate such risks are presented.

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施蒂克勒综合征晶状体的病理生物学。

目的：斯蒂克勒综合征是一组结缔组织疾病，其特征是先天性近视、巨大视网膜撕裂和视网膜脱离、腭裂、听力损失和早发性关节病。斯蒂克勒综合征患者还容易出现晶状体异常。由于 II 型或 XI 型胶原蛋白（绝大多数斯蒂克勒综合征患者的典型患病类型）在晶状体中的表达量都不高，因此本观察性队列研究探讨了潜在的替代机制，以解释为什么患者经常表现出这种不寻常但具有特征性的白内障类型：作者从 1800 多名经基因证实的斯蒂克勒综合征患者中进行观察：结果：发现了三种不同的晶状体病变。首先是先天性四联片状混浊。1 型（COL2A1）和 2 型（COL11A1）Stickler 综合征患者都可能出现这种情况。第二，早发性 Pantone 557 C 蓝绿色核白内障。第三，先天性晶状体软骨瘤，伴有局部小叶缺失：结论：特征性的四象限片状晶状体不透明有助于警惕可能的诊断，尤其是在仅有眼部表型的亚组中。发育中的玻璃体和晶状体在胚胎学上共享的时间和空间信号通路表明，纤维胶原在细胞信号传导中发挥着基本结构功能之外的辅助作用。TGFb/BMP超家族失调的共同途径可能与视网膜脱离和白内障的相关疾病以及视网膜脱离和白内障的病理生物学相关。先天性晶状体色素瘤伴有局部小叶缺失，会增加白内障手术的难度和风险。本文介绍了降低此类风险的策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Progress in Retinal and Eye Research 医学-眼科学

CiteScore

34.10

自引率

5.10%

发文量

期刊介绍： Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.