Juvenile glaucoma: a case study and disease review

A review of juvenile glaucoma including screening, diagnostic approach, and management. Patient details have been anonymised to protect the individual.

1. Ophthalmic Case Presentation Lyndon Woytuck MBBS4 Programme at St George’s University of London delivered by the University of Nicosia Sheba Medical Center at Tel Hashomer

2. Presentation to Emergency Department I.S. 32 year old male, married Presenting Complaint on Feb 27: Sharp pain in left eye since Feb 25, nausea, headache, blurred vision Background: NKDA, no comorbidities History of Presenting Complaint: 4 years prior had blurred vision and IOP was assessed at 42 in both eyes in community. Went on to have TRAB surgery. Bleb needling performed in right eye 10/2015 (IOP 14R, 31L) with local treatment following surgery. LE CC 6/20, RE CC 6/8.5 (Myopia -8) Prescribed Alphagan ( brimonidine ) 2x1/day, and Xalacom ( latanoprost / timolol ) 1x1/day among others

3. Differential Primary developmental glaucoma (in children) Primary open angle glaucoma Angle closure glaucoma (acute or chronic) Secondary acquired glaucoma Inflammatory, Phacogenic , Traumatic, Drug induced, Intraocular haemorrhage, Neovascular

4. Juvenile Glaucoma Rare juvenile onset open angle glaucoma with autosomal dominant transmission Epidemiology: 1 in 50 000 in USA Pathophysiology: Impaired outflow of aqueous humour through the canal of Schlemm causes increased IOP, with thickened and abnormal deposition of extracellular tissue between the anterior chamber and canal on pathology. The myocilin gene relates to the trabecular meshwork inducible glucocorticoid response (TIGR) in patients with juvenile glaucoma. This codes for the glycoprotein myocilin that is found in the trabecular meshwork and other ocular tissues. The normal function of myocilin (MYOC) and its role in causing glaucoma is undetermined. Also, CYP1B1   familial may relate to consanguineous cases.

5. Juvenile Glaucoma Presentation: When carefully monitored in families known to have the condition, increased IOP begins at 5-10 years, but in sporadic or previously unknown cases onset is usually found in adolescence or early adulthood Family history of glaucoma over 2 generations or in a parent and sibling (early diagnosis) Asymptomatic until glaucoma is advanced Myopia in 50% On exam: Increased IOP bilaterally Myopia Optic disc damage (cupping) Visual field loss Slit lamp examination - Normal Gonioscopy - Normal, open angles, occasionally prominent uveal processes

6. Management Workup: Glaucoma assessment – Tonometry, Field testing ( perimetry ), fundus photography or ophthalmoscopy, and retinal tomography Emergent care may include Acetazolamide, glycerol 50% solution PO, Mannitol IV Medical: Topical glaucoma medications may temporally control IOP. The rising IOP may become resistant to all medications and dictate a need for eye surgery (1-3 years after symptom onset) Beta-blockers ( Timolol ), Prostaglandin agonists ( Latanoprost ), or combination with an alpha2-agonist ( brimonidine [ Combigan ]) or carbonic anhydrase inhibitor ( brinzolamide , [ Simbrinza ]) Surgical: Laser trabeculoplasty , Trabeculectomy , Drainage implant, Deep sclerectomy , Goniotomy This patient had trabeculectomy with a needling revision in the right eye, now having a drainage implant surgery in his left eye after being given emergent care, brimonidine , dorzolamide / timolol ( Cosopt ), latanoprost and multiple analgesics

7. Tube shunt surgery Refractory glaucoma in which medications and other procedures have failed Glaucoma tubes or shunt devices come in many different varieties ( ie . Ahmed, Molteno , Baerveldt , Krupin , Schocket, etc.). All are implanted in the eye to provide an artificial drainage from the eye to equalize the IOP An incision is made underneath the conjunctiva and the body of the device is placed over the sclera within the orbit and sutured in place. The tube extends from the body of the device, and is inserted into the anterior chamber. Regular follow up by the surgeon until the eye completely heals: 6 to 8 weeks. Meanwhile, frequent and multiple eye drops and restriction from strenuous activities. The need for further IOP lowering treatment after surgery varies

8. Prognosis This patient Careful observation after surgery Inform of risk for children In general Regular eye exams indefinitely Regular follow up for candidate children or with myopia and borderline IOP Early diagnosis is key

9. References Medscape. “Juvenile Glaucoma” Accessed from: http://emedicine.medscape.com/article/1207051-overview Teresa Chen. Harvard “Glaucoma Tube Shunt Procedures” Accessed from: http://www.djo.harvard.edu/site.php?url=/patients/pi/421