Patients with Sjögren-Larsson Syndrome Lack Macular Pigment

Ophthalmology

Volumn 117, Issue 5, 2010, Pages 966-971

  van der Veen, Rob L P ^a   Fuijkschot, Joris ^b   Willemsen, Michèl A A P ^b   Cruysberg, Johannes R M ^b   Berendschot, Tos T J M ^a   Theelen, Thomas ^b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LIPOFUSCIN; VISUAL PIGMENT; XANTHOPHYLL; ZEAXANTHIN;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; FEMALE; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REFLECTOMETRY; RETINA MACULA DEGENERATION; SJOEGREN LARSSON SYNDROME; VISUAL ACUITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; LUTEIN; MACULA LUTEA; MACULAR DEGENERATION; MALE; OPHTHALMOSCOPY; SJOGREN-LARSSON SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; XANTHOPHYLLS; YOUNG ADULT;

EID: 77951621954     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.10.019     Document Type: Article

References (35)

1. Sjögren T., and Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl 113 (1957) 1-112
2. Willemsen M.A., Cruysberg J.R., Rotteveel J.J., et al. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol 130 (2000) 782-789
3. Fuijkschot J., Cruysberg J.R., Willemsen M.A., et al. Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography. Ophthalmology 115 (2008) 870-875
4. Berendschot T.T., Willemse-Assink J.J., Bastiaanse M., et al. Macular pigment and melanin in age-related maculopathy in a general population. Invest Ophthalmol Vis Sci 43 (2002) 1928-1932
5. Berendschot T.T., and van Norren D. Macular pigment shows ringlike structures. Invest Ophthalmol Vis Sci 47 (2006) 709-714
6. Hammond Jr. B.R., Wooten B.R., and Snodderly D.M. Individual variations in the spatial profile of human macular pigment. J Opt Soc Am A Opt Image Sci Vis 14 (1997) 1187-1196
7. Robson A.G., Moreland J.D., Pauleikhoff D., et al. Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry. Vision Res 43 (2003) 1765-1775
8. Berendschot T.T., Goldbohm R.A., Klöpping W.A., et al. Influence of lutein supplementation on macular pigment, assessed with two objective techniques. Invest Ophthalmol Vis Sci 41 (2000) 3322-3326
9. Bone R.A., Landrum J.T., Guerra L.H., and Ruiz C.A. Lutein and zeaxanthin dietary supplements raise macular pigment density and serum concentrations of these carotenoids in humans. J Nutr 133 (2003) 992-998
10. Hammond Jr. B.R., Johnson E.J., Russell R.M., et al. Dietary modification of human macular pigment density. Invest Ophthalmol Vis Sci 38 (1997) 1795-1801
11. Landrum J.T., Bone R.A., Joa H., et al. A one year study of the macular pigment: the effect of 140 days of a lutein supplement. Exp Eye Res 65 (1997) 57-62
12. Trieschmann M., Spital G., Lommatzsch A., et al. Macular pigment: quantitative analysis on autofluorescence images. Graefes Arch Clin Exp Ophthalmol 241 (2003) 1006-1012
13. Delori F.C., Goger D.G., Hammond B.R., et al. Macular pigment density measured by autofluorescence spectrometry: comparison with reflectometry and heterochromatic flicker photometry. J Opt Soc Am A Opt Image Sci Vis 18 (2001) 1212-1230
14. Snodderly D.M., Brown P.K., Delori F.C., and Auran J.D. The macular pigment. I. Absorbance spectra, localization, and discrimination from other yellow pigments in primate retinas. Invest Ophthalmol Vis Sci 25 (1984) 660-673
15. Landrum J.T., and Bone R.A. Lutein, zeaxanthin, and the macular pigment. Arch Biochem Biophys 385 (2001) 28-40
16. Algvere P.V., Marshall J., and Seregard S. Age-related maculopathy and the impact of blue light hazard. Acta Ophthalmol Scand 84 (2006) 4-15
17. van de Kraats J., Berendschot T.T., Valen S., and van Norren D. Fast assessment of the central macular pigment density with natural pupil using the macular pigment reflectometer. J Biomed Opt 11 (2006) 064031
18. van de Kraats J., Kanis M.J., Genders S.W., and van Norren D. Lutein and zeaxanthin measured separately in the living human retina with fundus reflectometry. Invest Ophthalmol Vis Sci 49 (2008) 5568-5573
19. Willemsen M.A., IJlst L., Steijlen P.M., et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 124 (2001) 1426-1437
20. Boon C.J., Klevering B.J., Keunen J.E., et al. Fundus autofluorescence imaging of retinal dystrophies. Vision Res 48 (2008) 2569-2577
21. van de Kraats J., and van Norren D. Directional and nondirectional spectral reflection from the human fovea. J Biomed Opt 13 (2008) 024010
22. van de Kraats J., Berendschot T.T., and van Norren D. The pathways of light measured in fundus reflectometry. Vision Res 36 (1996) 2229-2247
23. Berendschot T.T., DeLint P.J., and van Norren D. Fundus reflectance-historical and present ideas. Prog Retin Eye Res 22 (2003) 171-200
24. Berendschot T.T., and van Norren D. Objective determination of the macular pigment optical density using fundus reflectance spectroscopy. Arch Biochem Biophys 430 (2004) 149-155
25. Charbel Issa P., van der Veen R.L., Stijfs A., et al. Quantification of reduced macular pigment optical density in the central retina in macular telangiectasia type 2. Exp Eye Res 89 (2009) 25-31 15
26. Berendschot T.T., and van Norren D. On the age dependency of the macular pigment optical density. Exp Eye Res 81 (2005) 602-609
27. Bone R.A., Landrum J.T., Fernandez L., and Tarsis S.L. Analysis of the macular pigment by HPLC: retinal distribution and age study. Invest Ophthalmol Vis Sci 29 (1988) 843-849
28. Coppens J.E., Franssen L., and van den Berg T.J. Wavelength dependence of intraocular straylight. Exp Eye Res 82 (2006) 688-692
29. Stringham J.M., and Hammond Jr. B.R. The glare hypothesis of macular pigment function. Optom Vis Sci 84 (2007) 859-864
30. Nilsson S.E., and Jagell S. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome. Br J Ophthalmol 71 (1987) 224-226
31. James P.F., and Zoeller R.A. Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sjögren-Larsson syndrome. J Biol Chem 272 (1997) 23532-23539
32. Mirshahi A., and Piri N. Fundus autofluorescence changes in two cases of Sjögren-Larsson syndrome. Int Ophthalmol (2008;Oct 2) [Epub ahead of print]
33. Trieschmann M., Beatty S., Nolan J.M., et al. Changes in macular pigment optical density and serum concentrations of its constituent carotenoids following supplemental lutein and zeaxanthin: the LUNA study. Exp Eye Res 84 (2007) 718-728
34. Hammond Jr. B.R., Fuld K., and Curran-Celentano J. Macular pigment density in monozygotic twins. Invest Ophthalmol Vis Sci 36 (1995) 2531-2541
35. Kalariya N.M., Ramana K.V., Srivastava S.K., and van Kuijk F.J. Carotenoid derived aldehydes-induced oxidative stress causes apoptotic cell death in human retinal pigment epithelial cells. Exp Eye Res 86 (2008) 70-80