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.