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Background <p>Usher syndrome type 1B (USH1B) is a rare autosomal recessive disorder characterized by congenital deafness, vestibular dysfunction, and progressive retinitis pigmentosa (RP). Cystoid macular edema (CME) is a treatable complication of RP, but its management in young children with USH1B lacks evidence-based guidance. We report the first observation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively with refractive correction and close follow-up, accompanied by accelerated axial elongation exceeding age-matched normative rates.</p> Case presentation <p>A 3-year-old male with a genetic diagnosis of USH1B (compound heterozygous MYO7A mutations: c.640G &gt; A p.Gly214Arg and c.6026&#xa0;C &gt; T p.Ala2009Val) presented with bilateral CME detected on optical coherence tomography (OCT). Baseline examination revealed high myopia (spherical equivalent refraction: -6.50D right, -5.75D left) and axial lengths of 24.19&#xa0;mm and 24.06&#xa0;mm, respectively. Given the lack of pediatric treatment guidelines, a conservative approach with full-time refractive correction and close monitoring was adopted. After 9 months of follow-up, OCT demonstrated spontaneous and near-complete resolution of bilateral CME without any pharmacological or surgical intervention. Best-corrected visual acuity remained stable at 0.3–0.4. Notably, axial length increased to 24.31&#xa0;mm and 24.21&#xa0;mm, corresponding to a growth rate of 0.027&#xa0;mm/month, which exceeds the age-matched normative range (0.016–0.025&#xa0;mm/month).</p> Conclusion <p>This case provides the first documentation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively. It suggests that a period of observation with refractive correction may be a prudent initial strategy, avoiding unnecessary exposure to potential treatment-related risks. The concurrent observation of accelerated axial elongation highlights the importance of including myopia progression monitoring in the ophthalmic follow-up of pediatric USH patients.</p>

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Spontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report

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  • 发表日期：

    2026年3月3日

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  • Anqi Wang,
  • Xiaoli Qi,
  • Yaoling Li,
  • Xue Li,
  • Xuehan Qian

摘要

Background

Usher syndrome type 1B (USH1B) is a rare autosomal recessive disorder characterized by congenital deafness, vestibular dysfunction, and progressive retinitis pigmentosa (RP). Cystoid macular edema (CME) is a treatable complication of RP, but its management in young children with USH1B lacks evidence-based guidance. We report the first observation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively with refractive correction and close follow-up, accompanied by accelerated axial elongation exceeding age-matched normative rates.

Case presentation

A 3-year-old male with a genetic diagnosis of USH1B (compound heterozygous MYO7A mutations: c.640G > A p.Gly214Arg and c.6026 C > T p.Ala2009Val) presented with bilateral CME detected on optical coherence tomography (OCT). Baseline examination revealed high myopia (spherical equivalent refraction: -6.50D right, -5.75D left) and axial lengths of 24.19 mm and 24.06 mm, respectively. Given the lack of pediatric treatment guidelines, a conservative approach with full-time refractive correction and close monitoring was adopted. After 9 months of follow-up, OCT demonstrated spontaneous and near-complete resolution of bilateral CME without any pharmacological or surgical intervention. Best-corrected visual acuity remained stable at 0.3–0.4. Notably, axial length increased to 24.31 mm and 24.21 mm, corresponding to a growth rate of 0.027 mm/month, which exceeds the age-matched normative range (0.016–0.025 mm/month).

Conclusion

This case provides the first documentation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively. It suggests that a period of observation with refractive correction may be a prudent initial strategy, avoiding unnecessary exposure to potential treatment-related risks. The concurrent observation of accelerated axial elongation highlights the importance of including myopia progression monitoring in the ophthalmic follow-up of pediatric USH patients.