Definition
Alström syndrome (AS) is a poorly understood, rare autosomal recessive syndrome that includes congenital retinal dystrophy leading to blindness, hearing impairment, metabolic syndrome, and other systemic manifestations.
Etiology
Alström syndrome is an autosomal recessive multisystem disorder due to mutations in the ALMS1 gene. This gene is located on the short arm of chromosome 2 (2p13) and contains 23 exons. The protein is 4,169 amino acids in length and contains a large tandem-repeat domain that makes up about 40 % of the entire protein (Hearn et al. 2002). It is ubiquitously expressed and appears to be necessary for function of ciliated cells. Mutations commonly occur in exons 8, 10, and 16, and different mutations appear to cause variable degrees of severity of disease.
Clinical Presentation
The ocular manifestations of AS include severely impaired vision, nystagmus, and photodysphoria by age 15 months. Unfortunately, ultimate vision will likely be at the light...
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References
Hearn T, Renforth GL et al (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 31(1):79–83
Malm E, Ponjavic V et al (2008) Full-field electroretinography and marked variability in clinical phenotype of Alstrom syndrome. Arch Ophthalmol 126(1):51–57
Marshall JD, Bronson RT et al (2005) New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165(6):675–683
Russell-Eggitt IM, Clayton PT et al (1998) Alstrom syndrome. Report of 22 cases and literature review. Ophthalmology 105(7):1274–1280
Vingolo EM, Salvatore S et al (2010) High-resolution spectral domain optical coherence tomography images of Alstrom syndrome. J Pediatr Ophthalmol Strabismus 47 Online:e1–e3
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Le, P.V., Sadda, S. (2014). Alström Syndrome. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1051-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1051-1
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Publisher Name: Springer, Berlin, Heidelberg
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