Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
PLoS One. 2024 Jan 17;19(1):e0296744. doi: 10.1371/journal.pone.0296744. eCollection 2024.
To determine if visual maturation continues beyond the first decade of life in children with albinism and whether this is related to albinism type, presence of nystagmus, eye muscle surgery or refractive errors.
Case series based on retrospective study of children with confirmed genetic diagnosis of albinism.
Clinical data were obtained from medical files of children examined during school years, including albinism type, visual acuity, eye muscle surgery, nystagmus, and others on different visits (Visit 1: ages 7-9; Visit 2: ages: 10-12; Visit 3: ages 13-16; Visit 4: ages >16).
Seventy-five children with albinism were included in the study. Patients were divided into different groups according to the albinism type including OCA1A: 17; OCA1B: 28; OCA2: 26; HPS: 3; OCA4: 1. Follow-up ranged from 3-13 years. Progressive visual acuity improvement was seen in all three main groups. T-test paired samples showed a statistically significant improvement when comparing vision from Visit 1 and Visit 3 in both OCA1A and OCA2 groups, with a mean vision improvement of 2 lines. There was no correlation between visual improvement and refractive error, eye muscle surgery or nystagmus.
An improved visual performance was seen in a large percentage of children with albinism during the second decade of life. The reason for this late improvement in vision is not clear but may be related to late foveal maturation or improvement in nystagmus with time. This information is useful for clinicians of these patients and when counseling parents.
确定白化病儿童的视觉发育是否会持续到生命的第一个十年之后，以及这是否与白化病类型、眼球震颤、眼肌手术或屈光不正有关。
基于对确诊遗传性白化病儿童的回顾性病例系列研究。
从在校期间接受检查的儿童的病历中获取临床数据，包括白化病类型、视力、眼肌手术、眼球震颤和其他不同就诊时的信息（就诊 1：7-9 岁；就诊 2：10-12 岁；就诊 3：13-16 岁；就诊 4：>16 岁）。
本研究共纳入 75 名白化病患儿。根据白化病类型将患者分为不同组别，包括 OCA1A：17 例；OCA1B：28 例；OCA2：26 例；HPS：3 例；OCA4：1 例。随访时间为 3-13 年。所有三个主要组别均观察到视力逐渐改善。配对样本 T 检验显示，OCA1A 和 OCA2 两组在就诊 1 和就诊 3 时的视力比较中，视力有显著改善，平均视力提高 2 行。视力改善与屈光不正、眼肌手术或眼球震颤之间无相关性。
在生命的第二个十年中，很大一部分白化病儿童的视觉表现有所改善。视力改善的原因尚不清楚，但可能与黄斑中心凹的晚期成熟或眼球震颤随时间的改善有关。这些信息对于这些患者的临床医生和家长咨询都很有用。
