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Purpose <p><i>RPE65</i>-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic <i>RPE65</i> variants who demonstrated a milder phenotype compared to previous cases.</p> Case presentation <p>A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30&#xa0;min and 24&#xa0;h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C &gt; T, p.Arg515Trp)] and a novel variant [c.462G &gt; T, (p.Lys154Asn)] in the compound heterozygous state in the <i>RPE65</i> gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery ofamplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in theRE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were alsoreduced in amplitude in BE.</p> Conclusions <p>Our findings suggest that <i>RPE65</i>-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.</p>

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Relatively preserved retinal function in RPE65-associated retinopathy: a case report

  • 期刊论文

  • 发表日期：

    2025年2月20日

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  • Kei Mizobuchi,
  • Takaaki Hayashi,
  • Shuhei Kameya,
  • Yuri Ohta,
  • Kohei Kuribayashi,
  • Kei Shinoda

摘要

Purpose

RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to previous cases.

Case presentation

A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30 min and 24 h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C > T, p.Arg515Trp)] and a novel variant [c.462G > T, (p.Lys154Asn)] in the compound heterozygous state in the RPE65 gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery ofamplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in theRE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were alsoreduced in amplitude in BE.

Conclusions

Our findings suggest that RPE65-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.