Background: Progressive retinal pigment epithelium (RPE) disruption in the absence of drusen or visual disturbances in young people is rarely reported in the literature, except for cases of juvenile macular degenerative diseases, pattern dystrophies or white dot syndromes. In age-related macular degeneration (AMD), RPE disruption typically does not become manifest clinically before age 55. This case report presents a young, healthy 26 year old Caucasian male with asymptomatic progressive RPE disruption in the absence of drusen, as detected by multi-spectral imaging (MSI) technology. Methods: A 26 year old Caucasian male was followed for progressive changes in RPE atrophy and melanin clumping over three visits in a three year period. His dilated fundus examination, fundus photography and optical coherence tomography were within normal limits. Long wavelength MSI revealed progressive RPE changes in the form of RPE atrophy and melanin clumping. MSI fundus auto- fluorescence (FAF) showed corresponding hyperautofluorescence in the right eye and hypoautofluorescence in the left. Findings: Macular RPE changes can result from phototoxic effects and vary by ethnicity. Functional biomarkers to determine the risk of future vision loss with AMD are frequently sought and include complement factor H and Age-Related Maculopathy Susceptibility 2. FAF, for example is highly indicative of RPE dysfunction and progression. Long wavelength MSI, 620 nm to 740 nm, enhances visualization of the RPE, more specifically atrophy and melanin clumping, which may be indicative of asymptomatic progressive early AMD or retinal dystrophies. Conclusion: This case shows a longitudinal example of progressive RPE disruption in a 26 year old male. This is only one example, but multiple cases of RPE disruption in young people exist. Using MSI to further investigate RPE disruption and progression in a young population may provide a potential biomarker for early AMD, photo toxicity or other retinal dystrophies and degenerations.
Dawn M. Tuminello, David T. Douglass, Cheryl N. Zimmer, Ayda M. Shahidi
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