Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.

Abstract

Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.

• Authors: Janet R Sparrow, Tobias Duncker, Russell Woods, François C Delori
• Journal: Advances in experimental medicine and biology (Adv Exp Med Biol) Vol. 854 Pg. 285-90 ( 2016) ISSN: 0065-2598 [Print] United States
• PMID: 26427423 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• BEST1 protein, human
• Bestrophins
• Chloride Channels
• Eye Proteins
• Lipofuscin

Topics

• Bestrophins
• Chloride Channels (genetics, metabolism)
• Eye Proteins (genetics, metabolism)
• Fluorescence
• Fundus Oculi
• Genetic Predisposition to Disease (genetics)
• Humans
• Lipofuscin (chemistry, metabolism)
• Microscopy, Confocal (methods)
• Mutation
• Ophthalmoscopy (methods)
• Retinal Pigment Epithelium (chemistry, metabolism, pathology)
• Tomography, Optical Coherence (methods)
• Vitelliform Macular Dystrophy (diagnosis, genetics, metabolism)