Department of Ophthalmology, Centro Hospitalar Universitário de São João, Avenida Prof. Hernâni Monteiro, 4202 - 451, Porto, Portugal.
Department of Surgery and Physiology, Faculty of Medicine of University of Porto, Porto, Portugal.
Doc Ophthalmol. 2021 Aug;143(1):93-98. doi: 10.1007/s10633-021-09824-0. Epub 2021 Feb 13.
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.
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.
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.
描述一例表现为轻度表型的 incontinentia pigmenti（IP）患儿，其光谱域光相干断层扫描（SD-OCT）和光相干断层扫描血管造影（OCT-A）发生改变，暗适应 3.0 视网膜电图（ERG）呈电阴性，提示存在视网膜内层功能障碍。
我们描述了一例 7 岁女性 IP 患儿。她右眼最佳矫正视力为 8/10，左眼为 6/10。眼部生物测量、眼压和眼底检查均正常。视网膜电图检查显示暗适应 3.0 ERG 呈电阴性，a 波正常，但 b 波不能超过基线升高。SD-OCT 发现双眼外丛状层不规则，OCT-A 评估显示在浅层毛细血管丛，在中心凹和旁中心凹区域的血流减少。
经典的 IP 影响周边视网膜；然而，黄斑区也可能发生血管和结构变化。据我们所知，我们报告了首例 IP 患者的电阴性视网膜电图。
