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Leukemic Optic Neuropathy Leukemic optic neuropathy is a rare entity that is characterized as optic nerve dysfunction resulting from direct infiltration of neoplastic leukocytes. It is an indicator of central nervous system involvement, and it is a neuro-ophthalmic and oncologic emergency that warr…

Alstrom Syndrome A 5-year-old male referred to the BPEI pediatric ophthalmology clinic for second opinion regarding bilateral progressive vision loss since infancy. VA was 20/200 OU and the patient had nystagmus. He was 99% percentile for weight but had no hearing loss or polydactyl. He underwent s…

Bilateral Ischemic Optic Neuropathy Following Buttock Augmentation in an IIH Suspect A 51-year-old female was transferred from an outside facility 5 days after buttock augmentation surgery in the prone position. On examination, there was no light perception in the right eye and hand motion vision i…

Cranial Nerve 6 Palsy from Metastatic Cholangiocarcinoma A 34-year-old woman presented with 2 weeks of diplopia. The patient had binocular horizontal diplopia with a right cranial nerve 6 palsy and moderate-to-severe headache of 1-week duration. Magnetic resonance imaging (MRI) of the brain and orb…

Intracanalicular Optic Nerve Sheath Meningioma A middle-aged patient with a PMH of breast cancer, migraines, and hyperlipidemia presents to the Bascom Palmer ER with a chief complaint of headache and left eye blurry vision for the past month. Recent work-up outside is remarkable for normal laborato…

Leber Hereditary Optic Neuropathy – LHON An 18-year-old healthy man was evaluated in the eye emergency room for acute progressive painless vision loss in both eyes. First was affected a right eye and a six days later, left eye was affected too. Best-corrected visual acuity was 20/800 right eye an…

Leber Hereditary Optic Neuropathy An 18-year-old male presented to the ER with bilateral decreased vision and eye pain for 10 days. His visual acuity was HM OD, 20/300 OS. He was noted to have disc pallor OD and temporal pallor with slight nasal elevation OS on fundus exam. His MRI showed T2 hyper …

Non-Arteritic Ischemic Optic Neuropathy We report a case of a 32-year-old male who presents with a four days blurry vision in the left eye. Patient denied any associated pain or systemic symptoms. His review of system includes mild gastrointestinal discomfort 2 years prior that led to eventual remo…

A 7-year-old patient with fundus photos showing temporal optic nerve pallor OU. Vision was 20/400 and 20/800. Ganglion cell layer of the patients male first cousin reveals diffuse thinning.

Vitamin A Deficiency A 73-year-old woman with a past medical history significant for Crohn’s disease and recently diagnosed colon cancer with recent sigmoid colon resection, presented with ten days of blurry vision in both eyes and nyctalopia. Onset of her symptoms was during a hospitalization fo…

Vitreopapillary Traction Syndrome The patient presented to the emergency room (ER) with recent-onset photopsia and blurred vision in the left eye, ocular discomfort, and headache. Examination revealed 20/25 vision in the left eye, blurred disc margin, and inferior disc hemorrhage. MRI orbit was unr…

Optic Disc Drusen with Structural and Functional Changes A young child presented with crossing of the eyes without headaches or associated neurologic symptoms. Visual acuity was OD 20/30 and OS 20/40. Motility examination demonstrated moderate angle esotropia with full versions. Intraocular pressur…

ABCA-4 Retinal Dystrophy A patient with bilateral progressive vision loss presents to the clinic for evaluation. The patient’s initial vision was hand motion in both eyes. Fundus photos shows extensive retinal degeneration, geographic atrophy, and optic nerve pallor. ABCA-4 related retinopathies …

Acute Zonal Occult Outer Retinopathy (AZOOR) A 31-year-old male presents with eye redness, foreign body sensation, and blurry vision in both eyes, worse in the right eye. On exam he is found to have follicular conjunctivitis in both eyes with sub epithelial infiltrates on the right cornea. His conj…

Autosomal Recessive RPE65-Deficient Leber Congenital Amaurosis A 17-year-old male with a biallelic RPE65 mutation resulting in autosomal recessive Leber Congenital Amaurosis is referred for evaluation for subretinal gene therapy with voretigene neparvovec-rzyl. Baseline evaluation was remarkable fo…

C2orf71 Retinitis Pigmentosa A patient presents to the neuro-ophthalmology clinic for evaluation of chronic progressive vision loss over many years. There is high suspicion for a genetic disorder given findings of bilateral symmetric nerve pallor, diffuse chorioretinal atrophy, and attenuated vascu…

A patient presented with a central scotoma in the right eye. Fundus examination revealed midperipheral chorioretinal atrophy in both eyes (Fig A). Fundus autofluorescence demonstrated areas of confluent midperipheral hypoautofluorescence (Fig B). Optical coherence tomography demonstrated choroidal …

Choroideremia with Secondary Choroidal Neovascularization A patient with no past medical history presented to the emergency department complaining of floaters in the right eye. Exam was notable for visual acuity of 20/70 in the right eye and 20/30 in the left eye. Intraocular pressures were 14 and …

Retinitis Pigmentosa (RHO Pro347Leu Mutation) with Intermediate Uveitis Our patient was referred for asymptomatic bilateral cystoid macular edema (CME) found on a routine eye exam. Initial visual acuity was 20/30 in both eyes with normal intraocular pressure. Posterior segment exam revealed 2+ vitr…