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LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5.

Schatz, Patrik LU ; Preising, Markus; Lorenz, Birgit; Sander, Birgit; Larsen, Michael; Eckstein, Christoph and Rosenberg, Thomas (2010) In Retina (Philadelphia, Pa.) Okt. p.1704-1713
Abstract
PURPOSE:: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. METHODS:: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included sequencing of RDH5 and RLBP1. RESULTS:: Patients 1 to 3 harbored homozygous mutations (c.881G>C, c.625C>T, and c.382G>A, respectively) and patient 4 harbored the compound heterozygous mutations (c.95delT and c.712G>T) in RDH5. A large variability in retinal dysfunction caused by RDH5 mutations was found but not fully explained by a... (More)
PURPOSE:: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. METHODS:: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included sequencing of RDH5 and RLBP1. RESULTS:: Patients 1 to 3 harbored homozygous mutations (c.881G>C, c.625C>T, and c.382G>A, respectively) and patient 4 harbored the compound heterozygous mutations (c.95delT and c.712G>T) in RDH5. A large variability in retinal dysfunction caused by RDH5 mutations was found but not fully explained by a simple prediction of reduced enzymatic function. All patients showed lack of autofluorescence of the fundus, indicating a reduced supply of 11-cis retinal to the photoreceptors. The lesions corresponding to the white dots did not autofluoresce and were seen on optical coherence tomography as discrete hyperreflective elements in the outer retina extending from the external limiting membrane to Bruch membrane. CONCLUSION:: Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. A relatively good functional status of 2 of 3 adult patients indicates that interference with 11-cis retinol dehydrogenase function may be a promising strategy for therapeutic intervention in retinal disorders featuring excessive lipofuscin accumulation. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Retina (Philadelphia, Pa.)
volume
Okt
pages
1704 - 1713
external identifiers
  • WOS:000284064600021
  • PMID:20829743
  • Scopus:78650178490
ISSN
1539-2864
DOI
10.1097/IAE.0b013e3181dc050a
language
English
LU publication?
yes
id
b9eb1672-c06d-4aa0-a0c5-5b9e8a1279e8 (old id 1688315)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20829743?dopt=Abstract
date added to LUP
2010-10-05 09:56:07
date last changed
2017-01-01 07:52:41
@article{b9eb1672-c06d-4aa0-a0c5-5b9e8a1279e8,
  abstract     = {PURPOSE:: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. METHODS:: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included sequencing of RDH5 and RLBP1. RESULTS:: Patients 1 to 3 harbored homozygous mutations (c.881G>C, c.625C>T, and c.382G>A, respectively) and patient 4 harbored the compound heterozygous mutations (c.95delT and c.712G>T) in RDH5. A large variability in retinal dysfunction caused by RDH5 mutations was found but not fully explained by a simple prediction of reduced enzymatic function. All patients showed lack of autofluorescence of the fundus, indicating a reduced supply of 11-cis retinal to the photoreceptors. The lesions corresponding to the white dots did not autofluoresce and were seen on optical coherence tomography as discrete hyperreflective elements in the outer retina extending from the external limiting membrane to Bruch membrane. CONCLUSION:: Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. A relatively good functional status of 2 of 3 adult patients indicates that interference with 11-cis retinol dehydrogenase function may be a promising strategy for therapeutic intervention in retinal disorders featuring excessive lipofuscin accumulation.},
  author       = {Schatz, Patrik and Preising, Markus and Lorenz, Birgit and Sander, Birgit and Larsen, Michael and Eckstein, Christoph and Rosenberg, Thomas},
  issn         = {1539-2864},
  language     = {eng},
  pages        = {1704--1713},
  series       = {Retina (Philadelphia, Pa.)},
  title        = {LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5.},
  url          = {http://dx.doi.org/10.1097/IAE.0b013e3181dc050a},
  volume       = {Okt},
  year         = {2010},
}