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Purpose <p>To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the <i>SPTB</i> gene, presenting with angioid streaks (ASs) and central retinal dysfunction.</p> Methods <p>A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal&#xa0;electroretinograms (ffERGs and MfERGs), and genetic testing with an HS gene panel.</p> Results <p>Her best-corrected visual acuity was Snellen equivalent 20/22 in the right eye and 20/20 in the left eye. Fundus examination revealed ASs with chorioretinal atrophy around the optic discs in both eyes (OU). Fundus autofluorescence imaging showed areas of autofluorescence loss corresponding to ASs and chorioretinal atrophy. In the ffERGs, dark-adapted (DA) 0.01 b-wave amplitudes and DA 3.0/10.0 a-wave amplitudes were nearly normal, but b-wave amplitudes were slightly reduced in OU. Meanwhile, light-adapted (LA) 3.0 a- and b-wave amplitudes, as well as the LA 30&#xa0;Hz flicker amplitudes, were slightly reduced. The mfERG trace arrays showed amplitude reductions, particularly in the central to temporal regions in OU. Genetic testing identified a heterozygous splice-site variant (c.4973 + 5G &gt; A) in <i>SPTB</i> (NM_001355436.2), classified as likely pathogenic.</p> Conclusions <p>This is the first reported case of an HS patient with ASs associated with an <i>SPTB</i> variant, exhibiting mild cone system dysfunction accompanied by central retinal dysfunction.</p>

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Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Natsuki Higa,
  • Takaaki Hayashi,
  • Kei Mizobuchi,
  • Mari Yoshikawa,
  • Junko Hanaya,
  • Tadashi Nakano

摘要

Purpose

To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction.

Methods

A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs and MfERGs), and genetic testing with an HS gene panel.

Results

Her best-corrected visual acuity was Snellen equivalent 20/22 in the right eye and 20/20 in the left eye. Fundus examination revealed ASs with chorioretinal atrophy around the optic discs in both eyes (OU). Fundus autofluorescence imaging showed areas of autofluorescence loss corresponding to ASs and chorioretinal atrophy. In the ffERGs, dark-adapted (DA) 0.01 b-wave amplitudes and DA 3.0/10.0 a-wave amplitudes were nearly normal, but b-wave amplitudes were slightly reduced in OU. Meanwhile, light-adapted (LA) 3.0 a- and b-wave amplitudes, as well as the LA 30 Hz flicker amplitudes, were slightly reduced. The mfERG trace arrays showed amplitude reductions, particularly in the central to temporal regions in OU. Genetic testing identified a heterozygous splice-site variant (c.4973 + 5G > A) in SPTB (NM_001355436.2), classified as likely pathogenic.

Conclusions

This is the first reported case of an HS patient with ASs associated with an SPTB variant, exhibiting mild cone system dysfunction accompanied by central retinal dysfunction.