Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.
Acta Ophthalmol. 2021 Jun;99(4):397-404. doi: 10.1111/aos.14630. Epub 2020 Oct 18.
To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation.
Medical chart review of 38 children who were referred to a specialized ophthalmological centre because of rapid vision loss. The patients were subsequently diagnosed with either CLN3 disease (18 patients) or early-onset STGD1 (20 patients).
Both children who were later diagnosed with CLN3 disease, as children who were later diagnosed with early-onset STGD1, initially presented with visual acuity (VA) loss due to macular dystrophy at 5-10 years of age. VA in CLN3 disease decreased significantly faster than in STGD1 (p = 0.01). Colour vision was often already severely affected in CLN3 disease while unaffected or only mildly affected in STGD1. Optic disc pallor on fundoscopy and an abnormal nerve fibre layer on optical coherence tomography were common in CLN3 disease compared to generally unaffected in STGD1. In CLN3 disease, dark-adapted (DA) full-field electroretinogram (ERG) responses were either absent or electronegative. In early-onset STGD1, DA ERG responses were generally unaffected. None of the STGD1 patients had an electronegative ERG.
Already upon presentation at the ophthalmologist, the retina in CLN3 disease is more extensively and more severely affected compared to the retina in early-onset STGD1. This results in more rapid VA loss, severe colour vision abnormalities and abnormal DA ERG responses as the main differentiating early clinical features of CLN3 disease.
帮助区分 CLN3（Batten）病，一种破坏性的儿童代谢疾病，与表现相似的早发性斯塔加特病（STGD1）。早期识别 CLN3 病患儿对于适当转诊、咨询和康复至关重要。
对因视力迅速下降而被转介至专门眼科中心的 38 名儿童的病历进行回顾。随后对这些患者做出 CLN3 病（18 名患者）或早发性 STGD1（20 名患者）的诊断。
CLN3 病组和早发性 STGD1 组的患者均在 5-10 岁时因黄斑营养不良而出现视力丧失（VA），最初表现为视力丧失。CLN3 病患者的 VA 下降速度明显快于 STGD1（p=0.01）。CLN3 病患者的色觉往往已经受到严重影响，而 STGD1 患者的色觉不受影响或仅轻度受影响。CLN3 病患者眼底镜检查可见视盘苍白，光学相干断层扫描可见神经纤维层异常，而 STGD1 患者一般无此改变。CLN3 病患者暗适应全视野视网膜电图（ERG）反应完全缺失或呈负相。早发性 STGD1 患者的暗适应 ERG 反应通常不受影响。无 STGD1 患者的 ERG 呈负相。
与早发性 STGD1 相比，CLN3 病患者的视网膜在眼科医生就诊时已经受到更广泛和更严重的影响。这导致 VA 丧失更快、严重的色觉异常和异常的暗适应 ERG 反应，成为 CLN3 病的主要早期鉴别特征。
