Sjögren-Larsson Syndrome

Theile, Ursel

doi:10.1007/bf00278449

Cited by 41 publications

(3 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Understanding of the natural history of retinopathy in patients with SLS is limited by the rarity of the condition, 7 variation in penetrance of fundus abnormalities, 4 , 5 as well as by the severity of the associated neurologic, motor, and cognitive limitations. 8 Life expectancy in patients with SLS is generally decreased, with some estimates suggesting that it can be as little as half that of the unaffected population, 9 , 10 ranging from as few as 15 years in men to 26 years in women. 11 However, many of these estimates are based on patients who were historically institutionalized, which may independently contribute to reduced survival.…”

Section: Discussionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

show abstract

“…Small doses of UVB damage the surface markers of these cells (I). In addition, epidermal cells have an impaired antigen presenting function in UVB-irradiated skin (9). The inflam matory cells in tissue sections of allergic contact dermatitis consist of about 75 % T-lymphocytes (8).…”

mentioning

confidence: 99%

“…with autosomal recessive inheritance. It has been reported sporadically from various parts of the world (7,9). A certain clustering of cases is found in the northcrn parts of Sweden (3).…”

mentioning

confidence: 99%