Background

Sjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in ALDH3A2 that results in deficiency of fatty aldehyde dehydrogenase and accumulation of fatty aldehydes and alcohols. The disease is associated with ichthyosis, spasticity, and intellectual disability. Patients exhibit a characteristic retinopathy with macular crystalline inclusions that first appear in early childhood and increase with age. Once formed, the inclusions are thought to be inert and irreversible. We sought to document how the crystalline inclusions change over time.

Materials and Methods

Serial retinal photographs of 4 SLS subjects (9–23 years old) were taken over a period of 1–3 years. Images were compared by visual inspection and analyzed using ImageJ/Fiji software to observe changes.

Results

Visual inspection of retinal photographs of SLS subjects taken over time demonstrated distinctive changes in crystalline inclusions. New inclusions were formed and some established inclusions regressed. These changes were conveniently demonstrated with software-based photographic image analysis.

Conclusions

We conclude that macular inclusions in SLS are not simply inert deposits, but are dynamic structures that form over time and are subject to remodeling. This conclusion provides new insight into the interplay between the metabolic defect and retinal pathology in SLS, and raises the potential for new therapeutic approaches to reverse some aspects of the maculopathy.

中文翻译：

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Sjögren-Larsson 综合征中的黄斑晶体内含物是经过重塑的动态结构。

背景

Sjögren-Larsson 综合征 (SLS) 是一种罕见的遗传性神经皮肤疾病，由ALDH3A2突变引起，导致脂肪醛脱氢酶缺乏和脂肪醛和醇的积累。该疾病与鱼鳞病、痉挛和智力障碍有关。患者表现出特征性的视网膜病变，伴有黄斑结晶包涵体，最早出现在儿童早期，并随着年龄增长而增加。一旦形成，内含物被认为是惰性和不可逆的。我们试图记录晶体内含物如何随时间变化。

材料和方法

4 名 SLS 受试者（9-23 岁）的连续视网膜照片是在 1-3 年内拍摄的。通过目视检查比较图像并使用 ImageJ/Fiji 软件进行分析以观察变化。

结果

随着时间的推移，对 SLS 受试者的视网膜照片进行目视检查，显示出晶体内含物的明显变化。新的夹杂物形成，一些已建立的夹杂物退化。通过基于软件的摄影图像分析可以方便地证明这些变化。

结论

我们得出结论，SLS 中的黄斑内含物不仅仅是惰性沉积物，而是随着时间的推移形成并会发生重塑的动态结构。这一结论为 SLS 中代谢缺陷和视网膜病理学之间的相互作用提供了新的见解，并提出了逆转黄斑病变某些方面的新治疗方法的潜力。