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Purpose <p>To determine the clinical characteristics and the causative genetic variant of a familial case of pigmented paravenous retinochoroidal atrophy (PPRCA).</p> Methods <p>Whole exome sequencing (WES) was performed on ten individuals from four families. Their clinical characteristics were determined and compared to other patients with other inherited retinal dystrophies (IRDs) who had <i>HK1</i> gene variants.</p> Results <p>A known heterozygous pathogenic variant in the hexokinase 1 (<i>HK1</i>) gene, c.2539G &gt; A; p.Glu847Lys, segregated with the six family members. Four affected family members had signs of PPRCA associated with mild macular degeneration detected by fundus autofluorescence and optical coherence tomography. In addition, four patients from three families with the same variant were diagnosed with cone-rod dystrophy, retinitis pigmentosa, and enhanced S-cone syndrome. They had different degrees of macular and mid-peripheral degeneration but lacked the pathogenic features of PPRCA.</p> Conclusion <p>This is the first study of familial PPRCA associated with the pathogenic <i>HK1</i> variant. Patients with the <i>HK1</i> variant had different clinical diagnoses based on the variations in the phenotypic severities. Their visual acuity and electroretinograms were less severely altered than expected given the structural abnormalities observed around the macula in imaging analyses.</p>

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Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene

  • 期刊论文

  • 发表日期：

    2026年1月16日

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  • Kazuma Oku,
  • Kei Mizobuchi,
  • Kiyofumi Mochizuki,
  • Kazushige Tsunoda,
  • Itsuka Matsushita,
  • Tatsuo Nagata,
  • Kaoru Fujinami,
  • Akiko Suga,
  • Kazutoshi Yoshitake,
  • Hirokazu Sakaguchi,
  • Takaaki Hayashi,
  • Takeshi Iwata,
  • Hiroyuki Kondo

摘要

Purpose

To determine the clinical characteristics and the causative genetic variant of a familial case of pigmented paravenous retinochoroidal atrophy (PPRCA).

Methods

Whole exome sequencing (WES) was performed on ten individuals from four families. Their clinical characteristics were determined and compared to other patients with other inherited retinal dystrophies (IRDs) who had HK1 gene variants.

Results

A known heterozygous pathogenic variant in the hexokinase 1 (HK1) gene, c.2539G > A; p.Glu847Lys, segregated with the six family members. Four affected family members had signs of PPRCA associated with mild macular degeneration detected by fundus autofluorescence and optical coherence tomography. In addition, four patients from three families with the same variant were diagnosed with cone-rod dystrophy, retinitis pigmentosa, and enhanced S-cone syndrome. They had different degrees of macular and mid-peripheral degeneration but lacked the pathogenic features of PPRCA.

Conclusion

This is the first study of familial PPRCA associated with the pathogenic HK1 variant. Patients with the HK1 variant had different clinical diagnoses based on the variations in the phenotypic severities. Their visual acuity and electroretinograms were less severely altered than expected given the structural abnormalities observed around the macula in imaging analyses.