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Neuro-ophthalmology Review First Hour— Afferent Visual System Thomas M. Bosley, MD Department of Ophthalmology King Saud University Neuro-ophthalmology • Afferent • Efferent • Other • • • • Anatomy Examination Diagnoses Tests Afferent Anatomy • • • • Anatomy Examination Diagnoses Tests Human Afferent Visual System Polyak, THE VERTEBRATE VISUAL SYSTEM, 1957 Afferent Anatomy Afferent Visual System • • • • • Visual acuity Color vision Visual field Pupil examination Fundoscopy • • • • Anatomy Examination Diagnoses Tests Examination • • • • • Visual acuity Color vision Visual field Pupil examination Fundoscopy Distance Ishihara Near Confrontation AOC Light Goldmann Direct ophthalmoscopy Dark Humphrey Slit lamp and lens Indirect ophthalmoscopy Afferent Visual System • • • • • Compression Trauma Inflammation Ischemia Congenital and genetic problems • • • • Anatomy Examination Diagnoses Tests Afferent Diagnoses • • • • • Compression Trauma Inflammation Ischemic Congenital and genetic problems Intraorbital ON Intracranial ON Optic chiasm Optic tract Posterior afferent system 35 yo woman • Reported 3 months of gradual visual loss OU • 7 months pregnant • Rapid visual loss OU over 1 week before N-O evaluation • VA at presentation OD 20/40 and OS NLP Normal sagittal scan Post-op visual fields 60 yo physician • • • • • c/o mild visual blurring No DM, no HBP; impotence x 10 years Good visual acuity and color vision Mild temporal pallor OU Prolactin level of 11,000 HVF MRI Afferent Diagnoses • • • • • Compression Trauma Inflammation Ischemic Congenital and genetic problems Globe Intraorbital ON Optic canal Optic chiasm Occipital lobe Before Temporal Lobectomy After temporal lobectomy 27 yo man • • • • • • • Driving his car at night 9 years before Hit a camel Substantial head trauma Hospitalized for 2 months Has noticed decreased vision in his right eye VA 20/40 OD and 20/20 OS Moderate bilateral optic atrophy GVF 18 yo boy • Playing around with friends • Fell over backwards, hitting his occiput with loss of consciousness for one hour • Blurred vision OU after that • VA 20/400 OU GVF MRI 32 yo man Afferent Diagnoses • • • • • Compression Trauma Inflammation Ischemia Congenital and Genetic problems Optic neuritis Orbital pseudotumor Other 27 yo woman • Developed blurred vision OD and mild right periorbital pain • VA 20/50 • MRI abnormal • Diagnosis multiple sclerosis Afferent Diagnoses • • • • • Compression Trauma Inflammation Ischemia Congenital and genetic problems Non-arteritic ischemic optic neuropathy Central retinal artery occlusion Other retinal emboli Giant cell arteritis with ION Giant Cell Arteritis, Day 2 Giant Cell Arteritis, Day 4 65 year old man Afferent Diagnoses • • • • • Compression Trauma Inflammation Ischemia Congenital and genetic problems Congenital retinal dystrophies Optic nerve hypoplasia Leber hereditary optic neuropathy Dominant and recessive optic atrophy Glaucoma 70 yo man Childhood Mild amblyopia OS PMH Seizures well controlled with Phenobarbital Family history Non-contributory CC: Reduced vision OD for 3 days Examination VA OD OS CF 1’ 20/40 Pupils 3+ APD Anterior Mild NS Mild NS 8 mm 8mm Lids Fundi Goldmann Visual Fields IVFA Evaluation • ESR normal several times; VDRL and ANA normal • CT of head unremarkable • IVFA showed leakage at the right optic disk with small hemorrhages temporally • DIAGNOSIS – NAION OD • Vision stable thereafter, until 5 months later … when he c/o decreased vision OS x 2 days Examination VA OD OS CF 3’ 20/50 Pupils 3+ APD Color 0/10 4/10 GVF Unable Inf alt defect Fundi GVF Clinical Course • ESR normal again • Treated with IV steroids without improvement • DIAGNOSIS – sequential NAION • Subsequently … 1 week later Visual Acuity OD OS 2 mo later CF 3’ CF 3’ 4 mo later HM HM 2 yr later LP HM 3 yr later LP LP Mitochondrial DNA Analysis • Partial analysis of mitochondrial genome showed mutations at 4960 and 9957 – 4960 mutation • novel in our KSA analysis • affects a poorly conserved nucleotide in NADH dehydrogenase subunit 2 (like secondary LHON mutations 4216 and 4917) – 9957 mutation • reported previously in association with MELAS • note his history of seizures