Lee Helena, Purohit Ravi, Sheth Viral, Maconachie Gail, Tu Zhanhan, Thomas Mervyn G, Pilat Anastasia, McLean Rebecca J, Proudlock Frank A, Gottlob Irene
From the University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom.
From the University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom.
Am J Ophthalmol. 2023 Jan;245:202-211. doi: 10.1016/j.ajo.2022.08.028. Epub 2022 Sep 6.
Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting.
To investigate the time course of foveal development after birth in infants with albinism.
Prospective, comparative cohort optical coherence tomography study.
Thirty-six children with albinism were recruited. All participants were between 0 and 6 years of age and were seen at Leicester Royal Infirmary. A total of 181 mixed cross-sectional and longitudinal optical coherence tomography examinations were obtained, which were analyzed for differences in retinal development in comparison to 297 cross-sectional control examinations.
Normal retinal development involves migration of the inner retinal layers (IRLs) away from the fovea, migration of the cone photoreceptors into the fovea, and elongation of the outer retinal layers (ORLs) over time. In contrast to controls where IRL migration from the fovea was almost completed at birth, a significant degree of IRL migration was taking place after birth in albinism, before arresting prematurely at 40 months postmenstrual age (PMA). This resulted in a significantly thicker central macular thickness in albinism (Δ = 83.8 ± 6.1, P < .0001 at 69 months PMA). There was evidence of ongoing foveal ORL elongation in albinism, although reduced in amplitude compared with control subjects after 21 months PMA (Δ = -17.3 ± 4.3, P < .0001).
We have demonstrated evidence of ongoing retinal development in young children with albinism, albeit at a reduced rate and magnitude compared with control subjects. The presence of a period of retinal plasticity in early childhood raises the possibility that treatment modalities, which aim to improve retinal development, could potentially optimize visual function in albinism.
在2016年视觉与眼科学研究协会会议以及2015年英伦三岛小儿眼科与斜视协会会议上发表。
研究白化病婴儿出生后黄斑中心凹发育的时间进程。
前瞻性、对比队列光学相干断层扫描研究。
招募了36名白化病儿童。所有参与者年龄在0至6岁之间，在莱斯特皇家医院接受检查。共获得181次混合横断面和纵向光学相干断层扫描检查，并与297次横断面对照检查进行比较，分析视网膜发育的差异。
正常的视网膜发育包括视网膜内层（IRL）从黄斑中心凹迁移、视锥光感受器向黄斑中心凹迁移以及随着时间推移视网膜外层（ORL）伸长。与出生时IRL从黄斑中心凹的迁移几乎完成的对照组相比，白化病患者出生后仍有显著程度的IRL迁移，在月经龄40个月（PMA）时过早停止。这导致白化病患者中央黄斑厚度显著增厚（月经龄69个月时，Δ = 83.8 ± 6.1，P <.0001）。有证据表明白化病患者黄斑中心凹ORL持续伸长，尽管与对照组相比，月经龄21个月后伸长幅度减小（Δ = -17.3 ± 4.3，P <.0001）。
我们已经证明白化病幼儿存在持续的视网膜发育，尽管与对照组相比速率和程度有所降低。幼儿期视网膜可塑性的存在增加了这样一种可能性，即旨在改善视网膜发育的治疗方式可能潜在地优化白化病患者的视觉功能。
