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Literature DB >> 7415820

Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

Abstract

All Swedish cases with the Sjögren-Larsson syndrome (SLS) i.e. 35 patients were studied. Glistening dots of unknown nature were seen round the foveola. These foveal and parafoveal changes seem to be a cardinal sign of SLS together with congenital ichthyosis, spastic di/tetraplegia and mental deficiency.

Entities: Disease Species

Mesh：

Year: 1980 PMID： 7415820 DOI： 10.1111/j.1755-3768.1980.tb05730.x

Source DB: PubMed Journal: Acta Ophthalmol (Copenh) ISSN： 0001-639X

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Cited

12 in total

1. Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.

Authors: Loren S Jack; Christy Benson; Mohammad A Sadiq; William B Rizzo; Eyal Margalit
Journal: Ophthalmology Date: 2015-03-14 Impact factor: 12.079

2. Computed tomography in Sjögren-Larsson syndrome.

Authors: J M Gomori; V Leibovici; A Zlotogorski; I Wirguin; S Haham-Zadeh
Journal: Neuroradiology Date: 1987 Impact factor: 2.804

3. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Authors: W B Rizzo; G Carney; Z Lin
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

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

Authors: Shaza N Al-Holou; Edward Siefker; Samiksha Fouzdar-Jain; Donny W Suh; William B Rizzo
Journal: Ophthalmic Genet Date: 2020-06-08 Impact factor: 1.803

5. MRI of white matter changes in the Sjögren-Larsson syndrome.

Authors: M Z Hussain; M Aihara; H Oba; K Ohtomo; G Uchiyama; H Hayashibe; S Nakazawa
Journal: Neuroradiology Date: 1995-10 Impact factor: 2.804

Review 6. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Authors: William B Rizzo
Journal: Mol Genet Metab Date: 2006-09-22 Impact factor: 4.797

Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

1. Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.

2. Computed tomography in Sjögren-Larsson syndrome.

3. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

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

5. MRI of white matter changes in the Sjögren-Larsson syndrome.

Review 6. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

7. Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.

8. Fundus autofluorescence changes in two cases of Sjögren-Larsson syndrome.

9. Cranial CT in the Sjogren-Larsson syndrome.

10. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome.