Oladiwura Dilys, Shweikh Yusrah, Roberts Clare, Theodorou Maria
Moorfields Eye Hospital NHS Foundation Trust, GB.
National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, GB.
Br Ir Orthopt J. 2022 Jun 21;18(1):48-56. doi: 10.22599/bioj.256. eCollection 2022.
Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus.
A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period.
Fifty-one subjects were identified, with complete data in 48. The mean age at presentation was 5.1 years (range 0-26 years). The mean binocular LogMAR visual acuity was 0.55(95%CI 0.53-0.57), mean refractive error was -1.8 Dioptre Sphere, DS (95% CI - 5.251.63) with -1.2 Dioptre Cylinder, DC (95% CI - 1.6-0.7). Ocular misalignment was found in 50% of patients. A diagnosis of Fusion Maldevelopment Nystagmus Syndrome (FMNS) was made in 6.3%, Infantile Nystagmus Syndrome (INS) in 8.4% and ABducting nystagmus/Inter-Nuclear Ophthalmoplegia (INO) in 2.1%. The descriptive term 'Manifest Horizontal Nystagmus'(MNH) was used in the majority, highlighting the difficulties in clinically differentiating the subtypes of nystagmus in DS. Eleven patients had associated cataract. Additional diagnoses unrelated to DS were made in 10.4%.
The most frequent type of nystagmus in our cohort was 'presumed' INS. This study highlights the importance of differentiating between FMNS and INS (with a latent component), so that further investigations can be performed as appropriate. Almost 25% had associated cataract, and a further 10% other diagnoses un-associated to DS. Despite INS being known to be associated with DS, further investigations may be required in a small subset with true INS after careful clinical assessment and use of eye movement recordings (where available).
据报道，高达30%的唐氏综合征（DS）患者会出现眼球震颤，但目前对其仍未完全了解。我们的研究旨在描述DS合并眼球震颤患者的临床特征。
对 Moorfields眼科医院在十年期间诊治的所有诊断为DS合并眼球震颤的患者进行回顾性病历审查。
共识别出51名受试者，其中48名有完整数据。就诊时的平均年龄为5.1岁（范围0 - 26岁）。双眼平均LogMAR视力为0.55（95%可信区间0.53 - 0.57），平均屈光不正为-1.8屈光度球镜，DS（95%可信区间-5.25 - 1.63），柱镜为-1.2屈光度，DC（95%可信区间-1.6 - 0.7）。50%的患者存在眼位偏斜。6.3%的患者诊断为融合发育不良性眼球震颤综合征（FMNS），8.4%为婴儿型眼球震颤综合征（INS），2.1%为外展性眼球震颤/核间性眼肌麻痹（INO）。大多数患者使用了描述性术语“显性水平眼球震颤”（MNH），这突出了在临床上区分DS患者眼球震颤亚型的困难。11名患者伴有白内障。10.4%的患者有与DS无关的其他诊断。
我们队列中最常见的眼球震颤类型为“疑似”INS。本研究强调了区分FMNS和INS（伴有潜在成分）的重要性，以便能酌情进行进一步检查。近25%的患者伴有白内障，另有10%有与DS无关的其他诊断。尽管已知INS与DS有关，但在经过仔细的临床评估并使用眼动记录（如有）后，一小部分真正患有INS的患者可能仍需要进一步检查。
