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Purpose <p>To characterize the clinical and genetic features of <i>REEP6</i>-associated retinopathy in 8 Japanese patients from 7 families</p> Study design <p>Retrospective, multicenter cohort study</p> Methods <p>Biallelic <i>REEP6</i> variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients.</p> Results <p>Among a nationwide cohort of 2011 patients with IRD, 8 patients from 7 families were found to carry biallelic <i>REEP6</i> variants. Four distinct variants were identified: c.223G&gt;A, p.Glu75Lys; c.268G&gt;C, p.Val90Leu; c.280_281del, p.Leu94ValfsTer86 (novel frameshift), and c.598+1G&gt;A. Five families (Families 1–5) carried the compound heterozygous p.Val90Leu and c.598+1G&gt;A variants. The other two had either homozygous c.598+1G&gt;A (Family 6) or compound heterozygous p.Glu75Lys/p.Leu94ValfsTer86 (Family 7). In Families 1–5, the patients exhibited relatively mild phenotypes with limited to peripheral retinal degeneration in the younger patients and gradual posterior pole involvement in the older patients. Optical coherence tomography revealed well-preserved outer retinal layers at the macula, and good visual acuity was maintained even in some of the older patients. In contrast, the 2 patients in Families 6 and 7 exhibited more severe phenotypes, including macular atrophy and visual acuity decline.</p> Conclusions <p>The combination of p.Val90Leu and c.598+1G&gt;A variants was associated with a milder phenotype, supporting the hypothesis that p.Val90Leu is a hypomorphic variant. These findings expand the clinical and genetic spectra of <i>REEP6</i>-associated retinopathy, particularly among East Asian populations.</p>

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Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort

  • 期刊论文

  • 发表日期：

    2026年1月19日

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  • Takeru Tsuboi,
  • Kei Mizobuchi,
  • Kazutoshi Yoshitake,
  • Kazuki Kuniyoshi,
  • Taro Kominami,
  • Shinji Ueno,
  • Koji M Nishiguchi,
  • Shunji Kusaka,
  • Takeshi Iwata,
  • Takaaki Hayashi,
  • Tadashi Nakano

摘要

Purpose

To characterize the clinical and genetic features of REEP6-associated retinopathy in 8 Japanese patients from 7 families

Study design

Retrospective, multicenter cohort study

Methods

Biallelic REEP6 variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients.

Results

Among a nationwide cohort of 2011 patients with IRD, 8 patients from 7 families were found to carry biallelic REEP6 variants. Four distinct variants were identified: c.223G>A, p.Glu75Lys; c.268G>C, p.Val90Leu; c.280_281del, p.Leu94ValfsTer86 (novel frameshift), and c.598+1G>A. Five families (Families 1–5) carried the compound heterozygous p.Val90Leu and c.598+1G>A variants. The other two had either homozygous c.598+1G>A (Family 6) or compound heterozygous p.Glu75Lys/p.Leu94ValfsTer86 (Family 7). In Families 1–5, the patients exhibited relatively mild phenotypes with limited to peripheral retinal degeneration in the younger patients and gradual posterior pole involvement in the older patients. Optical coherence tomography revealed well-preserved outer retinal layers at the macula, and good visual acuity was maintained even in some of the older patients. In contrast, the 2 patients in Families 6 and 7 exhibited more severe phenotypes, including macular atrophy and visual acuity decline.

Conclusions

The combination of p.Val90Leu and c.598+1G>A variants was associated with a milder phenotype, supporting the hypothesis that p.Val90Leu is a hypomorphic variant. These findings expand the clinical and genetic spectra of REEP6-associated retinopathy, particularly among East Asian populations.