Hi Dear All,
I would appreciate your advice on this case. The patient is a 54-year-old otherwise healthy male.
In 2018, his bilateral visual acuity was 20/25. In January 2024, BCVA was 20/25 in the right eye and 20/40 in the left eye, with a refractive error of -6.25 D. The visual field test revealed diffuse loss in the left eye and an inferior visual field defect in the right eye, with RNFL thinning on OCT. He was diagnosed with NTG, with a maximum IOP of 16 mmHg. He was followed by a glaucoma specialist and was prescribed latanoprost.
In March 2026, BCVA decreased to 20/30 OD and 20/50 OS. Brain and orbital MRI with and without contrast revealed bilateral optic nerve atrophy with T2 hyperintense signals involving the intraorbital segments of the optic nerve, and no abnormal enhancement was observed. Progressive visual field loss was confirmed. The glaucoma specialist ruled out NTG and consulted neuro-ophthalmologists to identify the underlying cause. Anti-glaucoma medications were discontinued.
There was no acute onset of visual deterioration. The patient complained of a gradual worsening of blurred vision in the left eye.
Whole-exome sequencing performed in April showed no pathological findings. The 24h IOP monitoring showed 11–19 mmHg in the right eye and 11–18 mmHg in the left eye. Ambulatory blood pressure ranged from 89–150 mmHg systolic to 55–88 mmHg diastolic.
Ishihara color vision test results were 4/8 OD and 0/8 OS. RAPD was present in the left eye. The right pupil responded briskly to light, while the left pupil showed sluggish light reaction. Fundus examination showed well-defined disc margins with normal disc color and temporal pallor; C/D ratio was 0.6 OD and 0.8 OS. Syphilis serology was negative. The latest examination reports are attached.
I would like to hear your thoughts on DDx and recommendations on further investigations. All comments and suggestions are greatly appreciated.
Best regards，
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Yan
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