PDF(Pubmed)
Abstract：
(1) Background: The aim of the study was to describe refractive development from early childhood to adulthood in Danish patients with albinism and to evaluate the effect of foveal developmental stage on refractive development; (2) Methods: Patients with a clinical diagnosis of ocular or oculocutaneous albinism were invited for a refractive evaluation and comprehensive phenotyping including macular optical coherence tomography (OCT) scans. Foveal hypoplasia was graded based on OCT from 0 (normal) to 4 (absence of any signs of foveal specialization). Medical files were reviewed for historical refractive values in individual patients; (3) Results: Hyperopia (spherical equivalent refraction (SEQ) of ≥+1 Diopter (D)) was common in both children (81.3%) and adults (67.1%). The lower prevalence of hyperopia in adults was predominantly explained by increasing astigmatism with age. Emmetropization (>2D change from before 3 years to adolescence) was seen in 22.2%. There was no influence on foveal hypoplasia grade on the degree of refractive errors throughout life; (4) Conclusions: We found that emmetropization was uncommon in Danish patients with albinism and that the degree of foveal developmental stage did not influence emmetropization or the distribution of refractive errors. High degrees of hyperopia and astigmatism were common. These results indicate that fear of impeding emmetropization should not refrain the clinician from providing adequate correction for refractive errors in young children with albinism.
摘要：
（1）背景：该研究的目的是描述丹麦白化病患者从幼儿到成年的屈光发育，并评估中央凹发育阶段对屈光发育的影响；（2）方法：邀请临床诊断为眼或眼皮肤白化病的患者进行屈光评估和综合表型分析，包括黄斑光学相干断层扫描（OCT）扫描。根据OCT将中心凹发育不全从0(正常)分级为4(没有任何中心凹特化的迹象)。对个别患者的历史屈光度值进行了医学档案审查；（3）结果：远视（球面等效屈光度（SEQ）≥1屈光度（D））在儿童（81.3％）和成人（67.1％）中都很常见。成人远视患病率较低的主要原因是散光随年龄增长而增加。在22.2%的患者中观察到胚胎化(从3年前到青春期>2D变化)。在整个生命周期中，中央凹发育不全的分级对屈光不正的程度没有影响；（4）结论：我们发现丹麦白化病患者不常见，中央凹发育阶段的程度并不影响屈光不正的分布。高度远视和散光是常见的。这些结果表明，担心阻碍直视化不应阻止临床医生为患有白化病的幼儿提供适当的屈光不正。
