Clinical Rounds
Taylor Strange, D.O.University of Louisville School of
MedicineDepartment of Ophthalmology and
Visual SciencesFriday, 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 Tpen
W: OD -1.00 sph CRx: 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
20/20 32mm
32mm
21
23(-) 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. Yanoff andDuker: Ophthalmology 3rd ed. Ch 9.8: 976-979
Hsu CT, Miller NR, Wray ML. Optic neuropathy from folic acid deficiency without alcohol abuse. Ophthalmologica 2002;216(1):65–7.