Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Graefes Arch Clin Exp Ophthalmol. 2022 Nov;260(11):3693-3700. doi: 10.1007/s00417-022-05662-1. Epub 2022 Jun 2.
Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.
Prospective, observational study to assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central retinal thickness (CRT) measured by optical coherence tomography and general disease progression (Hamburg CLN2 motor language score) in non-classical CLN2 patients.
All patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. All cases demonstrated a stable Hamburg motor language CLN2 Score and Weill Cornell LINCL Ophthalmic Severity Score. Visual function remained stable in 4/6 patients, 2/6 patients showed a decrease, 4/6 cases had a stable CRT and 2/6 showed a reduction of CRT. One patient showed a massive macular thinning and low vision. A correlation with a specific mutation or age could not be verified.
The presented longitudinal study characterizes the variable ocular involvement in non-classical CLN2 disease and contributes to the natural history description. The functional and morphologic data outline the necessity of regular ophthalmic examination. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease.
CLN2 患者在幼儿期即出现癫痫发作、精神运动迅速衰退和视力丧失。本研究旨在提供经基因证实的突变和非典型病程患者的纵向眼科数据，这些患者的发病较晚、进展缓慢、寿命延长。
对非典型 CLN2 患者进行前瞻性、观察性研究，以评估视力、视网膜特征（威氏康奈尔眼科评分）、光学相干断层扫描测量的中心视网膜厚度（CRT）以及一般疾病进展（汉堡 CLN2 运动语言评分）。
所有患者均接受了脑室内酶替代疗法用 cerliponase alfa。末次随访时的平均年龄为 12.4 岁；平均随访时间为 2.6 年。所有病例均表现出稳定的汉堡运动语言 CLN2 评分和威氏康奈尔 LINCL 眼科严重程度评分。4/6 例患者的视觉功能保持稳定，2/6 例患者视力下降，4/6 例患者 CRT 稳定，2/6 例患者 CRT 降低。1 例患者出现黄斑大片变薄和低视力。无法证实特定突变或年龄与疾病之间存在相关性。
本纵向研究对非典型 CLN2 疾病的眼部病变进行了特征描述，有助于对其自然史进行描述。功能和形态数据概述了定期眼科检查的必要性。对非典型 CLN2 疾病的眼部表型和视网膜变性进行描述。
