A 13-year-old Romanian boy presented to the eye clinic with a chief complaint of blurred distance and near vision. The patient reported a history of a boil on his neck that was removed in Russia one year ago. Cover testing demonstrated bilateral end point nystagmus and exotropia. Ocular health evaluation revealed an astrocytic hamartoma and oculo-rotary nystagmus. Referral to a retinal specialist helped confirm the diagnosis of astrocytic hamartoma but did not elucidate on the possible aetiology of the lesion or rule out tuberous sclerosis as the causative agent, as the patient was lost to follow-up.Based on fundus signs along with the nystagmus, neuro-imaging studies are indicated to rule out any intracranial masses that may be present. The most important differential diagnosis that must excluded is retinoblastoma, which can closely resemble astrocytic hamartoma. The suspicion of tuberous sclerosis was also considered as a potential cause of the retinal lesion, based on clinical signs. The prognosis for astrocytic hamartomas is relatively good, although until tuberous sclerosis is ruled out, caution should be exercised and serial ophthalmic evaluations should continue.

Juvenile-onset Open Angle Glaucoma (JOAG) has been proposed to be a small subset of Primary Open Angle Glaucoma (POAG) and on a continual spectrum of Primary Open Angle Glaucoma. Because most patients with JOAG are asymptomatic, tonometry and optic nerve analysis are crucial in early detection and, thus, must be performed on all patients, young and old. JOAG has a variable onset, with rapidly progressive neuropathy that does not respond well to medical therapy alone, and surgical intervention is often the eventual treatment of choice. Mutations in the myocillin gene have been strongly linked to the disease. JOAG follows an autosomal dominant inheritance with relatively high penetrance. As such, close monitoring, genetics screening, and/or early medical management to prevent irreversible optic neuropathy and blindness should be considered as well for presymptomatic family members.

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