Associated Retinal Consultants, Royal Oak, Michigan.
New York University, Department of Ophthalmology, New York, New York.
Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):169-175. doi: 10.22608/APO.201803. Epub 2018 Apr 9.
We present an updated clinical review of the pathophysiology, progression, and current treatments in pediatric patients with congenital X-linked retinoschisis (CXLRS). CXLRS is an X-linked inherited retinal degeneration characterized by splitting of the superficial layers of the retina. Most recent classification divides CXLRS into 4 distinct clinical phenotypes: type 1, foveal; type 2, foveolamellar; type 3, complex; and type 4, foveoperipheral. The majority of retinoschisis cavities remain stable throughout life and may spontaneously collapse. However, a select number of patients progress to macula-involving peripheral retinoschisis, rhegmatogenous, and combined tractional-rhegmatogenous detachments that require further intervention. Although several advances have been made over the past several decades, medical therapy remains limited to case series‒based carbonic anhydrase therapy and prophylactic laser retinopexy. Recent advances in genetic-based clinical trials with the retinoschisis gene are promising. Vitreoretinal surgical approaches remain complex, case-based, and require careful planning depending on the configuration and location of the retinoschisis cavity.
我们对先天性 X 连锁性视网膜劈裂症（CXLRS）患儿的病理生理学、进展和当前治疗方法进行了更新的临床综述。CXLRS 是一种 X 连锁遗传性视网膜变性，其特征是视网膜浅层分裂。最近的分类将 CXLRS 分为 4 种不同的临床表型：1 型，黄斑型；2 型，黄斑板层型；3 型，复杂型；4 型，黄斑周围型。大多数视网膜劈裂裂孔在整个生命周期中保持稳定，并可能自发塌陷。然而，少数患者进展为黄斑受累的周边视网膜劈裂、孔源性和联合牵拉性-孔源性脱离，需要进一步干预。尽管在过去几十年中取得了一些进展，但医学治疗仍然仅限于基于病例系列的碳酸酐酶治疗和预防性激光光凝。最近在基于基因的视网膜劈裂症临床试验方面的进展令人鼓舞。玻璃体视网膜手术方法仍然复杂，基于病例，需要根据视网膜劈裂腔的形态和位置进行仔细规划。
