Optic Disc Drusen Masking a Craniopharyngioma: A Case Report

Craniopharyngioma is a rare embryonic tumor in the sellar/parasellar region, with early diagnosis being crucial to prevent permanent sequale. There is overlap in the clinical presentation of craniopharyngioma and optic disc drusen (ODD), including visual field loss and reduced visual acuity. We describe the first known presentation of a patient with ODD masking the underlying diagnosis of craniopharyngioma, and identify shared findings in investigations.

Poster 54 Optic disc drusen masking a craniopharyngioma: A case report Aidan Pucchio1, Austin Pereira2, Netan Choudhry3 Queen's University School of Medicine, Kingston, Canada, 2Department of Ophthalmology and Vision Sciences (University of Toronto), Toronto, Canada, 3Vitreous Retina Macula Specialists of Toronto, Cleveland Clinic Canada, Toronto, Canada 1 Introduction: Craniopharyngioma is a rare embryonic tumor in the sellar/parasellar region, with early diagnosis being crucial to prevent permanent sequale. There is overlap in the clinical presentation of craniopharyngioma and optic disc drusen (ODD), including visual field loss and reduced visual acuity. We describe the first known presentation of a patient with ODD masking the underlying diagnosis of craniopharyngioma, and identify shared findings in investigations. Description of Case(s): An 82-year-old male presented for assessment of a cataract and consideration of surgery in the left eye. Past medical history included dry age-related macular degeneration and buried ODD. Best-corrected visual acuity (BCVA) was 20/40 in both eyes (OU). Small, soft drusen were observed at the macula OU. Bilateral, irregular disc elevation was noted, and was attributed to the ODD. The remainder of the exam was within normal limits. At the one year follow-up, BCVA had declined to 20/40 right eye (OD) and 20/100 left eye (OS) due to cataract maturation, so an unremarkable cataract surgery was performed. Post-operative BCVA was 20/50 OD and 20/80 OS. At the four week post-operative follow-up the patient presented with rapid visual decline, with BCVA falling to counting fingers OU. Neuro-ophthalmology consultation was initiated, an MRI brain was ordered, and the patient was diagnosed with a craniopharyngioma. Conclusions, including unique features of the case(s): This case represents the first in the literature of comorbid ODD and craniopharyngioma, and elucidates challenges in ophthalmological diagnosis of this benign brain tumour. Findings in common investigations including edematous appearance on fundoscopy, retinal nerve fiber layer thinning on OCT, and peripheral visual field constriction occur in both ODD and craniopharyngioma, making identification of craniopharyngioma without neuroimaging a challenge. Though concomitance is likely rare, clinicians should be aware of possible diagnostic challenges in patients with ODD and suspected craniopharyngioma. References: None. Keywords: tumors, diagnostic tests (ERG, VER, OCT, HRT, mfERG, etc), neuroimaging, retina, miscellaneous Financial Disclosures: The authors had no disclosures. Grant Support: None. Contact Information: Dr. Netan Choudhry, [e-mail] 118 | North American Neuro-Ophthalmology Society