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Abstract：
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). Universal signs of the condition are congenital ichthyosis, spastic paresis of the lower and upper limbs, and reduced intellectual ability. In addition to this clinical triad, patients with SLS experience dry eyes and decreased visual acuity caused by a progressive retinal degeneration. Examination of the retina in patients with SLS often reveals glistening yellow crystal-like deposits surrounding the fovea. This crystalline retinopathy often develops in childhood and is considered pathognomonic for the disease. The metabolic disorder typically shortens lifespan to half that of the unaffected population. However, now that patients with SLS live longer, it becomes increasingly important to understand the natural course of the disease. Our case describes a 58-year-old woman with advanced SLS whose ophthalmic examination illustrates the end-stage of the retinal degeneration. Optical coherence tomography (OCT) and fluorescein angiography confirm the disease is restricted to the neural retina with dramatic thinning of the macula. This case is unique since it is among the most advanced both in terms of chronological age and severity of retinal disease. While the accumulation of fatty aldehydes, alcohols, and other precursor molecules is the probable cause of retinal toxicity, a more complete understanding of the course of retinal degeneration may aid in the development of future treatments. The aim of our presentation of this case is to increase awareness of the disease and to foster interest in therapeutic research which may benefit patients with this rare condition.
Eye issues in Sjogren-Larsson Syndrome Sjögren-Larsson syndrome (SLS) is a rare, inherited condition that affects the skin and nervous system. It is caused by variations in a gene that controls the way fats are broken down in the body. The three key signs of the disease are (1) peeling, dry skin; (2) muscle stiffness and impaired movement of the arms and legs; and (3) reduced intellectual ability. Most signs of the condition appear shortly after birth. Genetic testing and counseling services can help patients and their families to understand what to expect with SLS. Caring for people with SLS requires teamwork by specialists like neurologists and physical therapists. Because eye problems are common, the early consultation of an eye doctor is also important. An eye examination can also confirm the diagnosis of SLS. SLS often causes the eyes to appear red, feel dry, or become irritated. This can make it hard to see in bright light. Decreased vision at night is also common. This is caused by the progressive loss of the central part of the retina which is needed to see fine details. Because SLS shortens lifespan, it is rare for anyone to reach the final stages of the disease. As patients with SLS are living longer, as illustrated by the individual in our case study, it becomes important to understand how the disease progresses. Unfortunately, treatments to restore vision are not yet available. Nevertheless, some protective measures can be taken. Eye examinations in early childhood are important for preventing damage to the eyes. Wearing glasses can improve vision, as well as protect eyes from accidental injury or falls. Eye drops can provide relief from dry eyes, and sunglasses can reduce glare and sensitivity to light. In the future, gene therapy may be used to treat SLS.
Eye issues in Sjogren-Larsson Syndrome Sjögren-Larsson syndrome (SLS) is a rare, inherited condition that affects the skin and nervous system. It is caused by variations in a gene that controls the way fats are broken down in the body. The three key signs of the disease are (1) peeling, dry skin; (2) muscle stiffness and impaired movement of the arms and legs; and (3) reduced intellectual ability. Most signs of the condition appear shortly after birth. Genetic testing and counseling services can help patients and their families to understand what to expect with SLS. Caring for people with SLS requires teamwork by specialists like neurologists and physical therapists. Because eye problems are common, the early consultation of an eye doctor is also important. An eye examination can also confirm the diagnosis of SLS. SLS often causes the eyes to appear red, feel dry, or become irritated. This can make it hard to see in bright light. Decreased vision at night is also common. This is caused by the progressive loss of the central part of the retina which is needed to see fine details. Because SLS shortens lifespan, it is rare for anyone to reach the final stages of the disease. As patients with SLS are living longer, as illustrated by the individual in our case study, it becomes important to understand how the disease progresses. Unfortunately, treatments to restore vision are not yet available. Nevertheless, some protective measures can be taken. Eye examinations in early childhood are important for preventing damage to the eyes. Wearing glasses can improve vision, as well as protect eyes from accidental injury or falls. Eye drops can provide relief from dry eyes, and sunglasses can reduce glare and sensitivity to light. In the future, gene therapy may be used to treat SLS.
摘要：
干燥-拉尔森综合征（SLS）是一种罕见的，常染色体隐性神经皮肤疾病。它是由ALDH3A2基因中序列变异的遗传引起的，编码脂肪醛脱氢酶（FALDH）。这种情况的普遍迹象是先天性鱼鳞病，下肢和上肢的痉挛性轻瘫，智力下降。除了这个临床三合会，SLS患者出现由进行性视网膜变性引起的干眼症和视力下降.SLS患者的视网膜检查通常会发现中央凹周围闪闪发光的黄色晶体状沉积物。这种晶体视网膜病通常在儿童时期发展，被认为是该病的病理标志。代谢紊乱通常将寿命缩短到未受影响人群的一半。然而,现在SLS患者的寿命更长了，了解疾病的自然过程变得越来越重要。我们的病例描述了一名58岁的患有晚期SLS的女性，其眼科检查说明了视网膜变性的末期。光学相干断层扫描（OCT）和荧光素血管造影证实，该疾病仅限于神经视网膜，黄斑急剧变薄。这种情况是独特的，因为它在年龄和视网膜疾病的严重程度方面都是最先进的。而脂肪醛的积累，酒精,和其他前体分子是视网膜毒性的可能原因，对视网膜变性过程的更全面了解可能有助于未来治疗的发展。我们介绍这种情况的目的是提高对这种疾病的认识，并培养对治疗研究的兴趣，这可能使患有这种罕见疾病的患者受益。
干燥-拉尔森综合征的眼部问题干燥-拉尔森综合征（SLS）是一种罕见的，影响皮肤和神经系统的遗传性疾病。它是由控制脂肪在体内分解方式的基因变异引起的。这种疾病的三个关键症状是(1)脱皮，皮肤干燥；（2）肌肉僵硬和手臂和腿的运动受损；（3）智力下降。大多数症状在出生后不久出现。基因检测和咨询服务可以帮助患者及其家人了解SLS的期望。照顾SLS患者需要神经学家和物理治疗师等专家的团队合作。因为眼睛问题很常见，眼科医生的早期咨询也很重要。眼睛检查也可以确认SLS的诊断。SLS经常导致眼睛出现红色，感觉干燥,或者变得恼火。这使得在明亮的光线下很难看到。夜间视力下降也很常见。这是由视网膜中央部分的逐渐丧失引起的，需要看到精细的细节。因为SLS缩短了寿命,很少有人到达疾病的最后阶段。随着SLS患者的寿命延长,正如我们案例研究中的个人所说明的那样，了解疾病的进展变得很重要。不幸的是,目前还没有恢复视力的治疗方法。然而，可以采取一些保护措施。儿童早期的眼科检查对于防止眼睛损伤很重要。戴眼镜可以改善视力，以及保护眼睛免受意外伤害或跌倒。眼药水可以缓解眼睛干涩，太阳镜可以减少眩光和对光的敏感性。在未来,基因治疗可用于治疗SLS。
干燥-拉尔森综合征的眼部问题干燥-拉尔森综合征（SLS）是一种罕见的，影响皮肤和神经系统的遗传性疾病。它是由控制脂肪在体内分解方式的基因变异引起的。这种疾病的三个关键症状是(1)脱皮，皮肤干燥；（2）肌肉僵硬和手臂和腿的运动受损；（3）智力下降。大多数症状在出生后不久出现。基因检测和咨询服务可以帮助患者及其家人了解SLS的期望。照顾SLS患者需要神经学家和物理治疗师等专家的团队合作。因为眼睛问题很常见，眼科医生的早期咨询也很重要。眼睛检查也可以确认SLS的诊断。SLS经常导致眼睛出现红色，感觉干燥,或者变得恼火。这使得在明亮的光线下很难看到。夜间视力下降也很常见。这是由视网膜中央部分的逐渐丧失引起的，需要看到精细的细节。因为SLS缩短了寿命,很少有人到达疾病的最后阶段。随着SLS患者的寿命延长,正如我们案例研究中的个人所说明的那样，了解疾病的进展变得很重要。不幸的是,目前还没有恢复视力的治疗方法。然而，可以采取一些保护措施。儿童早期的眼科检查对于防止眼睛损伤很重要。戴眼镜可以改善视力，以及保护眼睛免受意外伤害或跌倒。眼药水可以缓解眼睛干涩，太阳镜可以减少眩光和对光的敏感性。在未来,基因治疗可用于治疗SLS。
