Sjögren-larsson syndrome

Ophthalmology

Volumn 118, Issue 10, 2011, Pages 2101-2102

  Sanabria, María R ^a   Coco, Rosa M ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDH3A2 PROTEIN; LIPOFUSCIN; MELANIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; NONSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PHOTOPHOBIA; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA LUTEA; SJOEGREN LARSSON SYNDROME; SPASTICITY; VISUAL ACUITY;

FEMALE; HUMANS; LUTEIN; MACULAR DEGENERATION; MALE; SJOGREN-LARSSON SYNDROME; XANTHOPHYLLS;

EID: 80053604508     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.07.015     Document Type: Letter

References (5)

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2. M.A. Willemsen, J.R. Cruysberg, and J.J. Rotteveel Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome Am J Ophthalmol 130 2000 782 789
3. S.E. Nilsson, and S. Jagell Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjogren-Larsson Syndrome Br J Ophthalmol 71 1987 224 226 (Pubitemid 17025894)
4. R.L. Van der Veen, J. Fuijkschot, and M.A. Willemsen Patients with Sjögren-Larsson syndrome lack macular pigment Ophthalmology 117 2010 966 971
5. R.S. Holmes, and J. Hempel Comparative studies of vertebrate aldehyde dehydrogenase 3: Sequences, structures, phylogeny and evolution. Evidence for a mammalian origin for the ALDH3A1 gene Chem Biol Interact 191 2011 113 121