Ciliopathy: Senior-Løken Syndrome.

Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma

Journal: Advances in experimental medicine and biology 2019;1085():175-178

PMID: 30578507

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.

Address: 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 University, New York, NY, USA.; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA. [email protected].; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. [email protected].

DOI: 10.1007/978-3-319-95046-4_34

Link outs

Free resources

Medical:

https://medlineplus.gov/kidneycysts.html

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-PTPRC-1

Subscription / membership required

Full Text Sources:

https://dx.doi.org/10.1007/978-3-319-95046-4_34

MeSH Terms: Ciliopathies, Humans, Kidney Diseases, Cystic, Leber Congenital Amaurosis, Mutation, Optic Atrophies, Hereditary