PMC9237335_01
Clinical information of the patient. (A) Pedigree of the family. (B) Brain MRI showed symmetric hyperintense changes visualized in T2-weighted images of the basal ganglia, particularly the putamen; Orbit MRI showed no evidence of signal abnormality involving optic nerve or external compressive mass lesion. (C) Hepatic MRI revealed liver cirrhosis and splenomegaly. (D) OCT showed reduced thickness of the ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL), and significantly damaged papillo-macular bundle before treatment. (E) Three ophthalmic examinations prior to treatment revealed declining vision. After copper-chelation therapy, visual acuity increased significantly. (F) Kayser-Fleischer rings. (G) Fundus examinations showed that the temporal side of the optic disc is pale before treatment. Fundus examinations show improvement of the optic disc after copper-chelation therapy. (H) Automated visual field upon presentation, which showed a slow light response and pallor on the temporal side of the optic disc. 3 months later, improvement in visual field is noted. OCT, optical coherence tomography; GCC, ganglion cell complex; FLV, focal loss volume.
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During this time, he had been admitted to several ophthalmology hospitals, K-F rings were noted on slit-lamp examination (Figure 1F). However, orbit MRI showed no evidence of abnormality involving optic nerves or external compressive mass lesions (Figure 1B). Hepatic MRI revealed liver cirrhosis and splenomegaly (Figure 1C). Optical coherence tomography (OCT) showed reduced thickness of the ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL), and significantly damaged papillomacular bundle (Figure 1D). Three ophthalmic examinations prior to treatment revealed declining vision: first time: right eye -0.5, corrected visual acuity 0.4; left eye -0.5, corrected visual acuity 0.15; second time: right eye -0.75; left eye -0.75; third time: right eye -1, corrected visual acuity .1; left eye -1, corrected visual acuity 0.1 (Figure 1E). Fundus examinations showed a slow light response and pallor in the temporal side of the optic disc (Figure 1G). Static perimetry revealed diffuse visual field defects in the left eye (Figure 1H). As K-F ring and low ceruloplasmin are characteristic of WD, he underwent a genetic test and was confirmed to be carrying ATP7B pathogenic variants in biallelic -c.3089G>A p.G1030D (paternal) and c.2924C>A p.S975Y (maternal) (Figure 1A). Besides, the perimetry examination showed that the visual field has improved compared with 9 months before (Figure 1E). Fundus examinations were also better, with no visible disc edema, pallor, or maculopathy (Figure 1G). Automated visual fields presented significant improvement after the copper-chelation treatment (Figure 1H).