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Clinical Rounds. Taylor Strange, D.O. University of Louisville School of Medicine Department of Ophthalmology and Visual Sciences Friday, June 6th 2014. Patient Presentation. CC : “My son has something wrong with his eyes”
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Clinical Rounds Taylor Strange, D.O. University of Louisville School of Medicine Department of Ophthalmology and Visual Sciences Friday, June 6th 2014
Patient Presentation CC: “My son has something wrong with his eyes” HPI: Seven year old Asian male was referred to the pediatric Ophthalmology service from an outside Ophthalmologist for glaucoma evaluation. Patient denied vision loss, pain, redness, trauma or photophobia. Denied constricted visual field symptoms. No prior ocular history. POH: Myopia (-1.00 sphere OU) PMH/PSH: unremarkable Family Hx: adopted from China Meds: none Allergies: NKDA
21 32mm 32mm 23 Exam 20/20 BCVA P Tpen W: OD -1.00 sphCRx: OD -1.50 sph OS -1.00 sph OS -1.50 +0.50 x090 EOM: Full OU, no tropias/phorias CVF: constricted OS>OD Color Vision: Ishihara color plates: 16/16 plates OU Anterior Segment: WNL OU (-) RAPD OU 20/25+3
Exam Dilated Fundoscopic Exam: Bilateral optic nerve cupping OD OS
Visual Field Humphrey visual field (24-2) showing visual field constriction OD>OS
Cirrus HD-OCT: Retinal Nerve Fiber Layer and Optic Nerve Head Imaging
Workup OD OS
Clinical Course Trabeculectomy OU performed Post-operative care - Follow-up: - IOP controlled OS - IOP slightly increased OD (20-22mmHg), Azopt TID added - RTC this week
Primary Juvenile Glaucoma Onset: Recognized later in childhood, generally after 3 years of age or in early adulthood. Most commonly inherited by AD. Genetics: Approximately 60 % of people with juvenile open-angle glaucoma have mutations the in MYOC gene (aka TIGR). Located on on chromosome 1q23 (GLC1A), the MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in the trabecular meshwork, retina and the ciliary body. The myocilin protein mutation can also be seen in 2% to 4% of adult onset POAG.
Primary Juvenile Glaucoma EPIDEMIOLOGY • Incidence: Rare, about 1:50,000 • Age: between 3 and 40 years old SIGNS • Markedly elevated IOP • Strong family history of glaucoma that often shows an autosomal dominant pattern of inheritance SYMPTOMS • Asymptomatic early in disease, however, patients may notice visual field loss as disease progresses TREATMENT • Traditional medical and laser treatments for glaucoma may be useful. • Surgical therapies including trabeculectomy and seton implants are frequently needed for adequate control of IOP.
References • BSCS: Neuro-Ophthalmology: Toxic/Nutrional Optic Neuropathy. P154-156 • C. Orssaud, O. Roche, J.L. Dufier. Nutritional optic neuropathies. Journal of the Neurological Sciences 262 (2007) 158–164 • Sadun AA, Gurkan S, Patel V. Hereditary, Nutritional, and Toxic Optic Neuropathies. YanoffandDuker: Ophthalmology 3rd ed.Ch9.8: 976-979 • Hsu CT, Miller NR, Wray ML. Optic neuropathy from folic acid deficiency without alcohol abuse. Ophthalmologica 2002;216(1):65–7.