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Ciliopathy: Senior-Løken 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

  • Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000.

  • Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.1 and 34.2).

  • Onset of photophobia, nystagmus, and hyperopia can occur in the first few years of life or later in childhood.

  • Patients experience nephronophthisis, characterized by cystic kidney disease (medullary cystic kidney disease), reduced concentrating ability, and chronic tubulointerstitial nephritis, which progresses to end-stage renal disease.

  • Hypertension is common.

Keywords

Ciliopathy Senior-Løken syndrome Senior Loken syndrome 

Suggested Reading

  1. Hemachandar R. Senior-Loken syndrome – a ciliopathy. J Clin Diagn Res. 2014;8:MD04–5.  https://doi.org/10.7860/JCDR/2014/9688.5120.CrossRefGoogle Scholar
  2. Kaur A, Dhir SK, Goyal G, Mittal N, Goyal RK. Senior Loken Syndrome. J Clin Diagn Res. 2016;10:SD03–4.  https://doi.org/10.7860/JCDR/2016/21832.CrossRefPubMedPubMedCentralGoogle 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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