Ciliopathy: Sjögren-Larsson Syndrome

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


  • 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.


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. [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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