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Purpose <p>To describe a case of punctate inner choroidopathy (PIC) occurring in a RP2 associated Retinopathy female carrier, highlighting the diagnostic contribution of multimodal imaging and the therapeutic course.</p> Methods <p>Observational case report with multimodal retinal imaging, electrophysiology, and genetic testing.</p> Results <p>A 46-year-old woman with high myopia (− 8 diopters in both eyes) and a right Adie’s pupil presented with a shadow-like visual disturbance in the right eye (RE). Family history was notable for X-linked retinitis pigmentosa: her brother was hemizygous for the pathogenic RP2 variant c.1&#xa0;A &gt; G (p.Met1?), and her mother was a heterozygous carrier with light perception vision in both eyes. At presentation, best-corrected visual acuity (BCVA) was 20/32 in the RE and 20/20 in the left eye (LE). Fundus examination revealed diffuse chorioretinal atrophy and multiple punched-out lesions, predominantly nasal, with some macular involvement suggestive of inactive PIC. Subtle peripheral bone spicules were also observed. Fundus autofluorescence (FAF) demonstrated hypoautofluorescent lesions corresponding to the punched-out scars and radial hyperautofluorescent streaks around the posterior pole, a characteristic pattern of X-linked RP carriers. Flash electroretinography revealed bilateral rod and cone dysfunction, more pronounced in the LE. Genetic testing confirmed the heterozygous RP2 c.1&#xa0;A &gt; G variant, establishing the patient as an X-linked RP carrier. Two years later, the patient developed a new greyish inflammatory lesion in the papillomacular bundle of the RE. OCT demonstrated hyperreflective subretinal material disrupting the RPE with posterior hypertransmission, consistent with an acute PIC lesion. She was treated with systemic corticosteroids and methotrexate. Subsequent flares required treatment escalation, including mycophenolate mofetil and later a combination of methotrexate and adalimumab due to intolerance. One year after initiating biologic therapy, the patient remains in remission with stable visual acuity (20/32 RE, 20/25 LE).</p> Conclusions <p>Secondary PIC may occur in carriers of X-linked RP. Multimodal imaging and genetic testing are essential for accurate characterization, and immunosuppressive therapy can achieve sustained disease control.</p>

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Secondary punctate inner choroidopathy in an RP2 associated retinopathy female carrier

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月4日

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  • Gonzalo Roig-Ferreruela,
  • Sofía Uncetabarrenechea-Larrucea,
  • María Aramberri-Araiz,
  • Sonia Valsero-Franco,
  • Joseba Artaraz,
  • Ester Carreño,
  • Alex Fonollosa

摘要

Purpose

To describe a case of punctate inner choroidopathy (PIC) occurring in a RP2 associated Retinopathy female carrier, highlighting the diagnostic contribution of multimodal imaging and the therapeutic course.

Methods

Observational case report with multimodal retinal imaging, electrophysiology, and genetic testing.

Results

A 46-year-old woman with high myopia (− 8 diopters in both eyes) and a right Adie’s pupil presented with a shadow-like visual disturbance in the right eye (RE). Family history was notable for X-linked retinitis pigmentosa: her brother was hemizygous for the pathogenic RP2 variant c.1 A > G (p.Met1?), and her mother was a heterozygous carrier with light perception vision in both eyes. At presentation, best-corrected visual acuity (BCVA) was 20/32 in the RE and 20/20 in the left eye (LE). Fundus examination revealed diffuse chorioretinal atrophy and multiple punched-out lesions, predominantly nasal, with some macular involvement suggestive of inactive PIC. Subtle peripheral bone spicules were also observed. Fundus autofluorescence (FAF) demonstrated hypoautofluorescent lesions corresponding to the punched-out scars and radial hyperautofluorescent streaks around the posterior pole, a characteristic pattern of X-linked RP carriers. Flash electroretinography revealed bilateral rod and cone dysfunction, more pronounced in the LE. Genetic testing confirmed the heterozygous RP2 c.1 A > G variant, establishing the patient as an X-linked RP carrier. Two years later, the patient developed a new greyish inflammatory lesion in the papillomacular bundle of the RE. OCT demonstrated hyperreflective subretinal material disrupting the RPE with posterior hypertransmission, consistent with an acute PIC lesion. She was treated with systemic corticosteroids and methotrexate. Subsequent flares required treatment escalation, including mycophenolate mofetil and later a combination of methotrexate and adalimumab due to intolerance. One year after initiating biologic therapy, the patient remains in remission with stable visual acuity (20/32 RE, 20/25 LE).

Conclusions

Secondary PIC may occur in carriers of X-linked RP. Multimodal imaging and genetic testing are essential for accurate characterization, and immunosuppressive therapy can achieve sustained disease control.