Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum

被引:5
作者
Murro, Vittoria [1 ]
Mucciolo, Dario Pasquale [1 ]
Giorgio, Dario [1 ]
Pavese, Laura [1 ]
Boraldi, Federica [1 ,2 ]
Quaglino, Daniela [2 ]
Finocchio, Lucia [1 ]
Sodi, Andrea [1 ]
Virgili, Gianni [1 ]
Giansanti, Fabrizio [1 ]
机构
[1] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth, Florence, Italy
[2] Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy
关键词
NEAR-INFRARED REFLECTANCE; COHERENCE TOMOGRAPHY; MUTATION DETECTION; ABCC6; MUTATIONS; ANGIOID STREAKS; PEAU DORANGE; MRP6; GENE; FUNDUS; MANIFESTATIONS; IDENTIFICATION;
D O I
10.1016/j.ajo.2020.12.007
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
PURPOSE: To describe the retinal findings of patients affected by pseudoxanthoma elasticum (PXE) using a multimodal imaging approach including floodillumination adaptive optics ophthalmoscopy (AO). DESIGN: Retrospective case series. MATERIALS AND METHODS: Patients affected by PXE were retrospectively studied. Clinical data, color, infrared and autofluorescence fundus imaging, optical coherence tomographic scans, and AO examinations were collected. Furthermore, the photoreceptor count was assessed. PXE diagnosis was confirmed by a positive skin biopsy and/or genetic testing. RESULTS: Twenty-one eyes of 18 patients (11 females and 7 males) were included in the study. In 3 patients, both eyes were studied. The mean age at examination was 37.7 +/- 16.4 years (range 14- 66) and the mean best-corrected visual acuity (BCVA) was 0.1 +/- 0.2 logMAR (range 0-1). We identified 3 types of angioid streaks (AS) using AO: "crack,'' "band,'' and "hypopigmented.'' The first 2 were very similar and they differed in size; the third type showed specific clinical features. Comet lesions appeared as hyper-reflective round lesions on AO imaging. In all eyes, the cone mosaic appeared reduced inside the streaks compared to the neighboring areas (13,532.8 +/- 1,366.5 cones/mm(2) vs 16,817.1 +/- 1,263.0 cones/mm(2) respectively). CONCLUSION: Using AO imaging in PXE-related retinopathy, we were able to observe the presence of the photoreceptors within the angioid streaks, differentiate 3 types of angioid streaks, based on size and reflective features, and identify the very small crystalline bodies not identifiable using other retinal imaging techniques. (C) 2020 Elsevier Inc. All rights reserved.
引用
收藏
页码:84 / 95
页数:12
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