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Purpose <p>To investigate the long-term longitudinal changes of the retinal morphology and visual function in patients with fundus albipunctatus (FA).</p> Study design <p>Retrospective observational study.</p> Methods <p>Seventeen Japanese patients with FA who had pathogenic variants of the <i>RDH5</i> gene were studied in a multicenter retrospective study.</p> Results <p>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.</p> Conclusion <p>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.</p>

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Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatus

  • 期刊论文

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  • 发表日期：

    2026年3月28日

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  • Takuhiro Hayakawa,
  • Kei Mizobuchi,
  • Takaaki Hayashi,
  • Taro Kominami,
  • Koji M Nishiguchi,
  • Shinji Ueno,
  • Kazuki Kuniyoshi,
  • Mineo Kondo,
  • Takeshi Iwata,
  • Kaoru Fujinami,
  • Kazushige Tsunoda

摘要

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.