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Ciliopathy: Sjögren-Larsson 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

  • Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1–2 years old and increase with age.

  • Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism.

  • About 50% have pigmentary degeneration of the retina, with decreased visual acuity and marked photophobia.

  • Patients have dry, scaly skin (ichthyosis). Affected infants tend to be born prematurely.

  • They also have neurological problems due to leukoencephalopathy (affecting the white matter of the brain). Intellectual disability varies from mild to severe, along with dysarthria and delayed speech.

Keywords

Ciliopathy Sjögren-Larsson syndrome 

Suggested Reading

  1. Cho KH, Shim SH, Kim M. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome. Clin Genet. 2018;93(4):721–30.CrossRefGoogle Scholar
  2. Nanda T, Kovach JL. Ophthalmic findings in late stage Sjogren-Larsson syndrome. Retin Cases Brief Rep. 2017;1–4.  https://doi.org/10.1097/ICB.0000000000000583. [Epub ahead of print].

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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