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11 April 2026 : Case report  China

Recurrent Bilateral Macular Edema Linked to NOTCH2NLC GGC Repeat Expansion: A Case Report

Challenging differential diagnosis, Rare disease

Ruikang Tan BCDEF 1, Minming Zheng ABDE 1, Zheng Zheng AD 1*, Caixin Wu BCDF 1, Wenli Liu CDF 1, Ziyan Xu BF 1

DOI: 10.12659/AJCR.951749

Am J Case Rep 2026; 27:e951749

Figure 1 Multimodal imaging in both eyes of the patient. (A, B) Color fundus photography of both eyes. (C, D) OCT, indicating cystoid macular edema in both eyes, with heights of 625.1 μm (right eye, C) and 512.4 μm (left eye, D). Further, the EZ between the fovea and the optic disc had become shallow or even disappeared. (E, F) Autofluorescence revealed distinct hypofluorescent lesions in the macular area of both eyes, with petal-shaped fluorescent defects at the fovea corresponding to the edematous regions. The posterior pole exhibited a diffuse hyperfluorescence between the fovea and the optic disc. (G, H) FFA+ICGA showed a diffuse mottled pattern of hyper-and-hypofluorescence in the posterior pole, extending from the fovea to the optic disc in both eyes. (I, J) One week after the patient received intravitreal injection of aflibercept in both eyes, OCT indicated that the macular edema had basically subsided, and the foveal morphology was satisfactory. OCT – optical coherence tomography; EZ – ellipsoid zone; FFA+ICGA – fluorescein angiography combined with indocyanine-green angiography.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923