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Ciliopathy: Alström Syndrome

  • Stephen H. Tsang
  • Alicia R. P. AycinenaEmail author
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

  • Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure.

  • Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA). The fundus shows pigmentary retinopathy with peau d’orange appearance and some fine white dots like drusen around the macula; the disc is pale, with attenuated retinal vessels (Fig. 35.1).

  • Patients have short stature; boys have hypogonadotropic hypogonadism and girls have polycystic ovary syndrome (PCOS).

  • Obesity is always present, with markedly increased triglyceride and VLDL-C levels; arterial hypertension is diagnosed as early as 2 years of age. There is no polydactyly or syndactyly.

  • About half have developmental delay, but intelligence is usually normal.

Keywords

Ciliopathy Alström syndrome 

Suggested Reading

  1. Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK. Refining genotype-phenotype correlation in Alstrom syndrome through study of primary human fibroblasts. Mol Genet Genomic Med. 2017;15:390–404.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA
  3. 3.Department of Pediatrics, Division of GeneticsUniversity of California San FranciscoSan FranciscoUSA

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