Journal article

Publication year: 2010

Pages: 1704-1713

Journal: RETINA: The Journal of Retinal and Vitreous Diseases

Volume number: 30

Issue number: 10

ISSN: 0275-004X

eISSN: 1539-2864

DOI Link: https://doi.org/10.1097/IAE.0b013e3181dc050a

Publisher: Lippincott, Williams & Wilkins

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. RETINA 30:1704-1713, 2010

Harvard Citation style: Schatz, P., Preising, M., Lorenz, B., Sander, B., Larsen, M., Eckstein, C., et al. (2010) LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5, RETINA: The Journal of Retinal and Vitreous Diseases, 30(10), pp. 1704-1713. https://doi.org/10.1097/IAE.0b013e3181dc050a

APA Citation style: Schatz, P., Preising, M., Lorenz, B., Sander, B., Larsen, M., Eckstein, C., & Rosenberg, T. (2010). LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5. RETINA: The Journal of Retinal and Vitreous Diseases. 30(10), 1704-1713. https://doi.org/10.1097/IAE.0b013e3181dc050a