Ciliopathy: Sjögren-Larsson Syndrome.

Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma

Journal: Advances in experimental medicine and biology 2019;1085():181-182

PMID: 30578509

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.

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_36

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https://dx.doi.org/10.1007/978-3-319-95046-4_36

MeSH Terms: Ciliopathies, Fovea Centralis, Humans, Retina, Sjogren-Larsson Syndrome