11 April 2026
: Case report 
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 1DOI: 10.12659/AJCR.951749
Am J Case Rep 2026; 27:e951749
Figure 2 Multimodal imaging in both eyes of the patient’s father. (A, B) Color fundus photography of both eyes showing that the retina in the posterior pole is thinning, with scattered atrophic foci faintly visible in the left eye (B). (C, D) OCT showing that the fovea in both eyes was wider and deeper, the retina thinned and atrophied, and EZ was almost undetectable. (E–H) FFA showing a diffuse mottling pattern of hyper-and-hypofluorescence in the posterior pole area of both eyes, with a small patchy filling defect in the superotemporal region of the optic disc in the right eye, and slight leakage from the infratemporal branch retinal vessel in the left eye. OCT – optical coherence tomography; EZ – ellipsoid zone; FFA – fluorescein angiography.