Contributor: Korolos Sawires
Patient Presentation: A 45-year old female was referred to a neuro-ophthalmology clinic for concern of an optic nerve lesion in the right eye. The patient noted that she was told there was something "atypical" with her optic nerve during an eye exam as a teenager. She is asymptomatic. Her past medical history revealed asthma with no significant family history.
Visual acuity was 20/20 OD and 20/20 OS with normal pupil size and no RAPD. Humphrey 24-2 SITA fast visual fields and a fundus photograph of the right eye are shown below:
Question 1: What is the main finding of the fundus photo and HVF testing above?
Next, an OCT RNFL and GCA were performed and are shown below:
An OCT HD cross of the right optic nerve was performed and is shown below:
Question 2: What is the main finding of this OCT?
Question 3: What is the most likely diagnosis?
Question 4: What clinical findings is Tuberous sclerosis complex commonly associated with?
Kato A, Obana A, Gohto Y, Seto T, Sasano H. Optic coherence tomography appearances of retinal astrocytic hamartoma and systemic features in tuberous sclerosis of Japanese patients. Eur J Ophthalmol. 2019 May;29(3):330-337. doi: 10.1177/1120672118787441. Epub 2018 Jul 11. PMID: 29991284.
Northrup H, Krueger DA, Northrup H, Krueger DA, Roberds S, Smith K, et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49(4):243-54.
Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, Veronese C, Ciardella AP, Nucci P. RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex. Retina. 2016 Jun;36(6):1199-208. doi: 10.1097/IAE.0000000000000829. PMID: 26618803.
Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001 Apr;85(4):420-3. doi: 10.1136/bjo.85.4.420. PMID: 11264130; PMCID: PMC1723924.
Soliman W, Larsen M, Sander B, Wegener M, Milea D. Optical coherence tomography of astrocytic hamartomas in tuberous sclerosis. Acta Ophthalmol Scand. 2007 Jun;85(4):454-5. doi: 10.1111/j.1600-0420.2006.00795.x. PMID: 17559471.
To identify OCT features of astrocytic hamartomas and be able to differentiate between different neuro-ophthalmic pathologies.
To identify the systemic disease that is associated with astrocytic hamartomas.