Visual loss and optic neuropathy in a patient with Klinefelter’s syndrome, open-angle glaucoma, vitamin B₁₂(cobalamin) and folate deficiency

Abstract

A 54-year-old man with Klinefelter’s syndrome presented to the neuro-ophthalmology clinic with progressive painless visual blurring in the right eye over 2 years. He was receiving intramuscular testosterone therapy for hypogonadism and hypromellose for dry eye. Acuity was reduced bilaterally, and the right optic nerve head appeared pale and asymmetrically cupped. Optical coherence tomography revealed loss of retinal nerve fibre layer thickness in the right eye and visual field testing showed a developing right-ring scotoma. Blood tests showed vitamin B12 and folate deficiencies and polycythaemia. The patient was managed with intramuscular hydroxocobalamin, oral folate administration and re-initiation of his glaucoma medication. In Klinefelter’s syndrome, signs of comorbid deficiency can be masked by the polycythaemic effect of testosterone therapy. For patients on long-term testosterone therapy, such as those with Klinefelter’s syndrome, we recommend baseline ophthalmic examination and assessment, including intraocular pressure measurement, pachymetry, gonioscopy and screening 24-2 visual field testing.

Nutritional Factors: Benefits in Glaucoma and Ophthalmologic Pathologies

“…However, no clear associations have been found between the incidence of either primary open-angle or normal tension glaucoma and serum folates or homocysteine levels [ 276 ]. One exception is in cases of primary open-angle glaucoma with endocrine systemic disorders and hematological anomalies (including folate deficiency) [ 277 , 278 ].…”