SjÖgren-Larsson Syndrome

Ruggieri, Martino; Pascual-Castroviejo, I

doi:10.1007/978-3-211-69500-5_39

Cited by 1 publication

(2 citation statements)

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“…In the central nervous system, deficiency in the function of ALDH3A2 interferes with the production and integrity of myelin, including in the brain and spinal cord of patients with SLS. 2 , 4 , 23 This may contribute to the neurologic features of the disease, including abnormalities in visual evoked potentials. 4 Magnetic resonance imaging (MRI) of the brain often reveals a gradual development of abnormalities starting as soon as the first year of life manifesting as white matter changes, along with mild ventricular enlargement, diffuse brain atrophy, and hypoplastic corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

“… 1 The disease is characterized by a clinical triad of congenital dry (icthyptic) skin, symmetric spastic di- or tetraplegia, and leukoencephalopathy leading to reduced intellectual ability in early childhood. 1 , 2 It was first described in 1957 in 28 individuals from several highly consanguineous families in a remote area of northern Sweden. 3 SLS has a unique ocular phenotype that typically appears early in life.…”

Section: Introductionmentioning

confidence: 99%

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End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature

Lambert

Shaikh

Marx

et al. 2022

Therapeutic Advances in Rare Disease

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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. Plain Language Summary 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.

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