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

Exam BCVA P T pen BCVA P T pen W:OD sph CRx: OD sph OS sph OS x090 OS sph OS x090 EOM:Full OU, no tropias/phorias CVF: constricted OS>OD CVF: constricted OS>OD Color Vision: Ishihara color plates: 16/16 plates OU Color Vision: Ishihara color plates: 16/16 plates OU Anterior Segment: WNL OU 20/20 3  2mm (-) RAPD OU 20/25+3

Exam Dilated Fundoscopic Exam: Bilateral optic nerve cupping ODOS

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 ODOS

Clinical Course Trabeculectomy OU performed Trabeculectomy OU performed Post-operative care - Follow-up: Post-operative care - Follow-up: - IOP controlled OS - IOP slightly increased OD (20-22mmHg), Azopt TID added 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: Rareabout 1:50,000Incidence: Rare, about 1:50,000 Age: between 3 and 40 years oldAge: between 3 and 40 years oldSIGNS Markedly elevated IOPMarkedly elevated IOP Strong family history of glaucoma that often shows an autosomal dominant pattern of inheritanceStrong family history of glaucoma that often shows an autosomal dominant pattern of inheritanceSYMPTOMS Asymptomatic early in disease, however, patients may notice visual field loss as disease progressesAsymptomatic early in disease, however, patients may notice visual field loss as disease progressesTREATMENT Traditional medical and laser treatments for glaucoma may be useful.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.Surgical therapies including trabeculectomy and seton implants are frequently needed for adequate control of IOP.

References BSCS: Neuro-Ophthalmology: Toxic/Nutrional Optic Neuropathy. P BSCS: Neuro-Ophthalmology: Toxic/Nutrional Optic Neuropathy. P C. Orssaud, O. Roche, J.L. Dufier. Nutritional optic neuropathies. Journal of the Neurological Sciences 262 (2007) 158–164 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. Yanoff andDuker: Ophthalmology 3 rd ed. Ch 9.8: Sadun AA, Gurkan S, Patel V. Hereditary, Nutritional, and Toxic Optic Neuropathies. Yanoff andDuker: Ophthalmology 3 rd ed. Ch 9.8: Hsu CT, Miller NR, Wray ML. Optic neuropathy from folic acid deficiency without alcohol abuse. Ophthalmologica 2002;216(1):65–7. Hsu CT, Miller NR, Wray ML. Optic neuropathy from folic acid deficiency without alcohol abuse. Ophthalmologica 2002;216(1):65–7.