Purpose

To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram (ERG), suggestive of inner retinal dysfunction.

Case report

We described a 7-year-old female child with IP. Her best corrected acuity was 8/10 in the right eye and 6/10 in the left eye. Biomicroscopy, intraocular pressure and fundoscopy were normal. The electroretinography findings showed an electronegative DA 3.0 ERG with a normal a-wave but a b-wave that did not elevate above baseline. SD-OCT identified irregularities in the outer plexiform layer in both eyes, and OCT-A assessment revealed at the superficial capillary plexus, areas of decrease in the flow in parafoveal and perifoveal regions.

Conclusion

Classically, IP affects the peripheral retina; however, vascular and structural changes in macula can occur as well. To our knowledge, we report the first electronegative electroretinogram in a patient with IP.

中文翻译：

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患有轻度色素失禁和视网膜内功能障碍表型的儿童

目的

描述一例患有轻度色素失禁 (IP) 表型的儿童，伴随光谱域光学相干断层扫描 (SD-OCT) 和光学相干断层扫描血管造影 (OCT-A) 以及电负性暗适应 (DA) 的变化3.0 视网膜电图 (ERG)，提示内视网膜功能障碍。

案例报告

我们描述了一名患有 IP 的 7 岁女童。她的最佳矫正视力是右眼 8/10 和左眼 6/10。生物显微镜、眼压和眼底镜检查正常。视网膜电图检查结果显示电负性 DA 3.0 ERG，a 波正常，但b波未升高到基线以上。SD-OCT 发现双眼外丛状层不规则，OCT-A 评估显示浅表毛细血管丛，中央凹旁和中央凹周围区域的流量减少区域。

结论

经典地，IP 影响周边视网膜。然而，黄斑的血管和结构变化也可能发生。据我们所知，我们报告了 IP 患者的第一个负电性视网膜电图。