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Updated: Mar 30, 2026
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatus
Takuhiro Hayakawa1, Kei Mizobuchi2, Takaaki Hayashi2
1Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Purpose:
To investigate the long-term longitudinal changes of the retinal morphology and visual function in patients with fundus albipunctatus (FA).
Study Design:
Retrospective observational study.
Methods:
Seventeen Japanese patients with FA who had pathogenic variants of the RDH5 gene were studied in a multicenter retrospective study.
Results:
The baseline ages ranged from 3 to 61 years, and the patients were followed longitudinally for 3 to 21 years. The relative size of the flecks/dots decreased throughout the course of the disease; rapidly in the first and second decades of life and slowly thereafter. The flecks/dots in the OCT images were seen as hyperreflective flat deposits on the retinal pigment epithelium in the first decade of life, and as hyperreflective pile-like formations that extended to the ellipsoid zone (EZ) of the photoreceptors after the second decade of life. At later ages, the EZ in the mid-peripheral retina was not present due to photoreceptor atrophy. The Goldmann visual fields had a peripheral constriction in 7 of 11 cases that developed during the course of the disease process.
Conclusion:
The long-term longitudinal observations of the morphological changes of the retina and visual fields revealed that FA is a slowly progressive retinal dystrophy with atrophy of the peripheral photoreceptors in older patients. These findings will be very important information for the patients when providing genetic counseling.
