一名年轻女性的双侧无症状性黄斑色素减退：多模态成像及发病机制假说
Bilateral asymptomatic macular hypopigmentation in a young woman: multimodal imaging and pathogenetic hypothesis.
作者信息
Fantaguzzi Federico, Zucchiatti Ilaria, Sacconi Riccardo, Bux Anna Valeria, Prascina Francesco, Bandello Francesco, Querques Giuseppe
机构信息
Department of Ophthalmology, University Vita-Salute, IRCCS San Raffaele, Milan, Italy.
Department of Ophthalmology, University of Foggia, Foggia, Italy.
出版信息
Am J Ophthalmol Case Rep. 2022 Oct 13;28:101725. doi: 10.1016/j.ajoc.2022.101725. eCollection 2022 Dec.
PURPOSE
Macular retinal pigment epithelium (RPE) hypopigmentation is a recently described very rare condition and its pathogenesis is not completely understood. We report the case of a 23-year-old female who presented with bilateral whitish, oval-shaped foveal lesions and we speculated about the possible etiopathogenetic origin.
OBSERVATIONS
A 23-year-old female presented to our consideration for a routine ophthalmology visit. Visual acuity was 20/20 in both eyes. The fundus examination revealed a perifoveal choroidal nevus in the right eye and a bilateral yellowish, oval-shaped lesion centered on the fovea. Imaging tests (Spectral Domain-Optical Coherence Tomography, short wavelength and near-infrared autofluorescence) and functional tests (microperimetry and multifocal electroretinogram) were within normal limits, supporting the diagnosis of macular hypopigmentation without functional loss.
CONCLUSIONS
A complex dysregulation of both choroidal and RPE with melanin loss may be responsible for this condition.
目的
黄斑视网膜色素上皮（RPE）色素减退是一种最近才被描述的非常罕见的病症，其发病机制尚未完全明确。我们报告了一例23岁女性患者，其出现双侧白色椭圆形黄斑病变，并对可能的病因起源进行了推测。
观察结果
一名23岁女性前来我们科室进行常规眼科检查。双眼视力均为20/20。眼底检查发现右眼有一个黄斑旁脉络膜痣，以及双侧以黄斑为中心的淡黄色椭圆形病变。影像学检查（光谱域光学相干断层扫描、短波和近红外自发荧光）和功能检查（微视野计和多焦视网膜电图）均在正常范围内，支持黄斑色素减退且无功能丧失的诊断。
结论
脉络膜和RPE两者复杂的调节异常伴黑色素丢失可能是导致这种病症的原因。
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