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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Case Reports

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling

Shaza N. Al-Holoua Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USAORCID Iconhttps://orcid.org/0000-0003-3978-7253View further author information
ORCID Icon,
Edward Siefkerb Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USAView further author information
,
Samiksha Fouzdar-Jaina Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USA;b Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA;c Children’s Hospital and Medical Center, Omaha, NE, USAView further author information
,
Donny W. Suha Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USA;b Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA;c Children’s Hospital and Medical Center, Omaha, NE, USAView further author information
&
William B. Rizzob Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA;c Children’s Hospital and Medical Center, Omaha, NE, USACorrespondence[email protected]
View further author information
Pages 381-385 | Received 30 Apr 2020, Accepted 25 May 2020, Published online: 08 Jun 2020

References

  • Fouzdar-Jain S, Suh DW, Rizzo WB.Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype. Ophthalmic Genet. 2019;40(4):298–308. doi:10.1080/13816810.2019.1660379.
  • Rizzo WB.Genetics and prospective therapeutic targets for Sjögren-Larsson syndrome. Expert Opin Orphan Drugs. 2016;4(4):395–406. doi:10.1517/21678707.2016.1154453.
  • Jagell S, Polland W, Sandgren O. Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. Acta Ophthalmol. 1980;58:321–30.
  • Willemsen MAA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, Van Domburg PHMF, Deutman AF. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol. 2000;130:782–89.
  • Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E. Segmentation of retinal layers in Sjögren–Larsson syndrome. Ophthalmol. 2015;122(8):1730–30. doi:10.1016/j.ophtha.2015.02.003.
  • Fuijkschot J, Cruysberg JRM, Willemsen MAAP, Keunen JEE, Theelen T. Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren–Larsson syndrome detected by optical coherence tomography. Ophthalmol. 2008;115(5):870–75. doi:10.1016/j.ophtha.2007.05.063.
  • Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, Preibisch S, Rueden C, Saalfeld S, Schmid B. Fiji: an open-source platform for biological-image analysis. Nature Methods. 2012;9(7):676–82. doi:10.1038/nmeth.2019.
  • Cardona A, Saalfeld S, Schindelin J, Arganda-Carreras I, Preibisch S, Longair M, Tomancak P, Hartenstein V, Douglas RJ. TrakEM2 software for neural circuit reconstruction. PLoS One. 2012;7(6):e38011. doi:10.1371/journal.pone.0038011.
  • Legland D, Arganda-Carreras I, Andrey P.MorphoLibJ: integrated library and plugins for mathematical morphology with ImageJ. Bioinformatics. 2016;32(22):3532–34. doi:10.1093/bioinformatics/btw413.
  • Shanbhag AG. Utilization of information measure as a means of image thresholding. CVGIP: Graphical Models and Image Processing. 1994;56:414–19.
  • Nilsson SE, Jagell S.Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome. Br J Ophthalmol. 1987;71(3):224–26. doi:10.1136/bjo.71.3.224.
  • Rizzo WB, Craft DA.Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblastsa and plasma. J Lipid Res. 2000;41(7):1077–81.
  • Van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JRM, Berendschot TTJM, Theelen T. Patients with Sjögren-Larsson syndrome lack macular pigment. Ophthalmol. 2010;117:966–77.
  • Kovach JL, Isildak H, Sarraf D.Crystalline retinopathy: unifying pathogenic pathways of disease. Surv Ophthalmol. 2019;64(1):1–29. doi:10.1016/j.survophthal.2018.08.001.

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