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<p>Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (<i>RARB</i>) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphthalmia, corneal opacity, anterior segment dysgenesis, widespread multiorgan anomalies, hypotonia and cognitive impairment; case 2 with a missense variant, c.844G&gt;T had Peters anomaly, extreme microphthalmia, spasticity, profound psychomotor delay and refractory epilepsy. These findings highlight the need for <i>RARB</i> testing.</p>

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Clinical features of syndromic microphthalmia in two novel RARB variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月6日

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  • Yoshito Koyanagi,
  • Hazuki Morikawa-Anzai,
  • Tomoyo Yoshida,
  • Makiko Tominaga,
  • Yuichi Abe,
  • Rika Kosaki,
  • Keiko Matsubara,
  • Maki Fukami,
  • Sachiko Nishina

摘要

Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (RARB) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphthalmia, corneal opacity, anterior segment dysgenesis, widespread multiorgan anomalies, hypotonia and cognitive impairment; case 2 with a missense variant, c.844G>T had Peters anomaly, extreme microphthalmia, spasticity, profound psychomotor delay and refractory epilepsy. These findings highlight the need for RARB testing.