eMedicine Specialties > Ophthalmology > Intraocular Pressure

Glaucoma, Juvenile

David Sellers Walton, MD, Clinical Professor of Ophthalmology, Harvard Medical School; Surgeon in Ophthalmology, Massachusetts Eye and Ear Infirmary; Assistant Pediatrician, Massachusetts General Hospital

Updated: Feb 22, 2008

Introduction

Background

Primary developmental glaucomas

Primary congenital glaucoma

• Newborn primary congenital glaucoma
• Infantile primary congenital glaucoma
• Late-recognized primary congenital glaucoma

Autosomal dominant juvenile open-angle glaucoma

Primary angle-closure glaucoma

Primary glaucoma associated with systemic abnormalities

• Sturge-Weber syndrome
• Neurofibromatosis (NF-1)
• Stickler syndrome
• Oculocerebrorenal (Lowe) syndrome
• Rieger syndrome
• SHORT syndrome
• Hepatocerebrorenal (Zellweger) syndrome
• Marfan syndrome
• Rubinstein-Taybi syndrome
• Infantile glaucoma associated with retardation and paralysis
• Oculodentodigital dysplasia
• Open-angle glaucoma associated with microcornea and absent sinuses
• Mucopolysaccharidosis
• Trisomy 13
• Duplication 3q syndrome
• Trisomy 21 (Down syndrome)
• Cutis marmorata telangiectatica congenita
• Warburg syndrome
• Kniest syndrome (skeletal dysplasia)
• Michel syndrome
• Nonprogressive hemiatrophy
• PHACE syndrome
• Sotos syndrome
• Linear scleroderma
• GAPO syndrome
• Roberts pseudothalidomide syndrome
• Wolf-Hirschhorn (4p-) syndrome
• Robinow syndrome
• Nail-patella syndrome
• Cranio-cerebello-cardiac syndrome (3C syndrome)
• Brachmann-de Lange syndrome
• Rothmund-Thomson syndrome
• 9p deletion syndrome
• Phakomatosis  pigmentovascularis (PPV)

Primary glaucoma associated with ocular abnormalities

• Congenital pupillary-iris-lens membrane syndrome
• Aniridia (congenital and acquired glaucoma)
• Congenital ocular melanosis
• Sclerocornea
• Iridotrabecular dysgenesis
• Peters syndrome
• Congenital iris ectropion syndrome
• Posterior polymorphous dystrophy
• Idiopathic or familial elevated episcleral venous pressure
• Anterior corneal staphyloma
• Congenital microcoria with myopia
• Congenital hereditary endothelial dystrophy
• Congenital hereditary iris stromal hypoplasia
• Axenfeld-Rieger anomaly

Secondary acquired glaucomas

Traumatic glaucoma

• Acute glaucoma (angle concussion, hyphema, ghost cell glaucoma)
• Late-onset glaucoma with angle recession
• Arteriovenous fistula

Secondary to intraocular neoplasm

• Retinoblastoma
• Juvenile xanthogranuloma
• Leukemia
• Melanoma of ciliary body
• Melanocytoma
• Iris rhabdomyosarcoma
• Aggressive nevi of the iris
• Medulloepithelioma
• Mucogenic glaucoma with iris stromal cyst

Secondary to chronic uveitis

• Open-angle glaucoma
• Angle-blockage glaucoma (synechial angle closure, iris bombé with pupillary block, trabecular endothelialization)

Lens-related glaucoma

• Subluxation-dislocation and pupillary block (Marfan syndrome, homocystinuria, Weill-Marchesani syndrome, axial subluxation with progressive high myopia)
• Spherophakia and pupillary block
• Phacolytic glaucoma

Following lensectomy for congenital cataracts

• Pupillary block
• Chronic open-angle glaucoma following infantile lensectomy

Steroid-induced glaucoma

Secondary to rubeosis

• Retinoblastoma
• Coats disease
• Medulloepithelioma
• Familial exudative vitreoretinopathy
• Chronic retinal detachment

Secondary angle-closure glaucoma

• Cicatricial retinopathy of prematurity (ROP)
• Microphthalmos
• Nanophthalmos
• Retinoblastoma
• Persistent hyperplastic primary vitreous
• Congenital pupillary-iris-lens membrane
• Topiramate therapy
• Ciliary body cysts 
• Following laser therapy for ROP

Malignant glaucoma

Glaucoma associated with increased venous pressure

• Cavernous or dural A-V shunt
• Orbital disease

Secondary to intraocular infection

• Acute recurrent toxoplasmosis
• Acute herpetic iritis
• Endogenous endophthalmitis
• Maternal rubella infection

Glaucoma secondary to undetermined etiology

• Iridocorneal endothelial syndrome (ICE)

Pathophysiology

Following recognition of linkage of the gene for juvenile glaucoma on chromosome 1 (band 1q21-q31), the gene itself was identified and related to mutations found in the trabecular meshwork inducible glucocorticoid response (TIGR) gene in patients with juvenile glaucoma. This gene, now called myocilin, codes for the glycoprotein myocilin that is found in the trabecular meshwork and other ocular tissues. The normal function of myocilin and its role in causing glaucoma is undetermined.

Frequency

United States

Juvenile glaucoma is rare, with an estimated occurrence of 1 per 50,000 persons, when compared in frequency to other types of childhood glaucoma.

Mortality/Morbidity

No risk of mortality exists with juvenile glaucoma. Loss of vision is possible without early diagnosis and treatment.

Race

Juvenile glaucoma has been observed in Japanese, French, French Canadian, American, Panamanian, German, English, Irish, Danish, Italian, and Spanish families.

Sex

Juvenile glaucoma probably occurs with equal frequency and severity in males and females; however, a greater frequency in males has been observed.

Age

Patients with juvenile glaucoma show no evidence of congenital or infantile glaucoma. When candidate children are monitored carefully in families with a history of glaucoma, the onset of abnormal eye pressures occurs in children aged 5-10 years. Recognition of this glaucoma has occurred more often in adolescence or during the early adult years in sporadic patients.

Clinical

History

A family history of glaucoma with occurrence over 2 generations or in a parent and sibling often is responsible for an early diagnosis of juvenile glaucoma. Patients are asymptomatic until glaucoma is advanced. Myopia is present in 50% of persons with juvenile glaucoma.

Physical

• General physical examination findings are normal.
• Eye examination
  • Elevated eye pressures - Both eyes
  • Myopia
  • Optic disc damage (cupping)
  • Visual field loss
  • Slit lamp examination - Normal
  • Gonioscopy - Normal, open angles, occasionally prominent uveal processes

Causes

Juvenile glaucoma is caused by a genetically determined defect in the trabecular meshwork with autosomal dominant transmission (see Pathophysiology).

Differential Diagnoses

Other Problems to Be Considered

Late-recognized primary congenital glaucoma, glaucoma secondary to uveitis, steroid glaucoma, and iridocorneal dysgenesis
Late-recognized infantile glaucoma (anterior segment signs of infantile glaucoma, such as breaks in the Descemet membranes and corneal enlargement)
Glaucoma associated with a systemic disease (see Background) 
Glaucoma associated with a primary eye anomaly, such as Axenfeld anomaly (see Background) Glaucoma secondary to another eye disease, such as trauma, uveitis, or steroid use
Evidence of a narrow-angle glaucoma

Workup

Laboratory Studies

• Mutational analysis of the myocilin gene at chromosomal region 1q21-q31 can be performed. More than 50% of disease-causing alleles may be screened by restriction enzyme analysis.

Imaging Studies

• Glaucoma assessment - Field testing, fundus photography, and retinal tomography

Procedures

• See Physical.

Histologic Findings

An isolated report by Tawara and Inomata found an abnormal compact trabecular meshwork in patients with juvenile glaucoma.¹

Treatment

Medical Care

Glaucoma medications may temporally control IOP. Often, a rising eye pressure over 1-3 years may become resistant to all medications and dictate a need for eye surgery.

Surgical Care

Operations found useful for adult-onset open-angle glaucoma are useful in juvenile glaucoma. In addition, goniotomy is an effective procedure for this disease in both children and adults.

Consultations

Consultation with an ophthalmologist familiar with this unusual glaucoma and rare condition may be helpful.

Activity

No limitations on activity are necessary. When vision remains only in one eye, protection of the remaining seeing eye is mandatory.

Medication

The goals of pharmacotherapy are to reduce morbidity and to prevent complications.

Beta-blockers

The exact mechanism of ocular antihypertensive action is not established, but it appears to be a reduction of inflow or aqueous humor production.

Timolol (Timoptic, Timoptic XE, Blocadren)

May reduce elevated and normal IOP, with or without glaucoma by inhibiting inflow. Used as 0.25% or 0.5% solution and applied topically to the eye 1-2 times per day.

Dosing

Adult

1 gtt OU bid

Pediatric

1 gtt OU in morning

Interactions

Adverse reaction may be intensified by simultaneous systemic administration of beta-blocker (eg, Inderal)

Contraindications

Documented hypersensitivity; bronchial asthma or reactive airway disease

Precautions

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

May cause bradycardia, apnea, confusion, and asthma

Prostaglandin agonists

For reduction of IOP in patients intolerant to other IOP-lowering medications or who have failed to respond optimally to other IOP-lowering medications.

Latanoprost (Xalatan)

May decrease IOP by increasing outflow of aqueous humor.

Dosing

Adult

1 gtt (1.5 mcg) in affected eye qd in evening; higher frequency administrations may decrease effectiveness

Pediatric

Not established

Interactions

Coadministration with eye drops containing the preservative thimerosal may reduce effects (administer at intervals of 5 min between applications)

Contraindications

Documented hypersensitivity; signs of inflammation

Precautions

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Do not administer while wearing contact lenses; may increase brown pigment in iris and gradually change eye color (unknown effect)

Follow-up

Further Inpatient Care

• Careful observation after glaucoma surgery is indicated.

Further Outpatient Care

• Repetitive regular eye examinations are indicated indefinitely after the diagnosis of juvenile glaucoma.
• Reexamination of the eyes is indicated for those candidate children with a family history of juvenile glaucoma or with myopia and borderline IOPs.

Inpatient & Outpatient Medications

• As dictated by IOPs, antiglaucoma medications may be indicated.

Prognosis

• With an early diagnosis of glaucoma, the prognosis is excellent for retention of vision in patients.

Patient Education

• Family members of patients with juvenile glaucoma must be informed of their risk and the risk of glaucoma in offspring.
• For excellent patient education resources, visit eMedicine's Glaucoma Center. Also, see eMedicine's patient education articles Glaucoma Overview, Understanding Glaucoma Medications, and Glaucoma FAQs.

Miscellaneous

Medicolegal Pitfalls

• Delayed diagnosis of glaucoma or failure to inform parents of their genetic risk for children with glaucoma

References

1. Tawara A, Inomata H. Developmental immaturity of the trabecular meshwork in juvenile glaucoma. Am J Ophthalmol. Jul 15 1984;98(1):82-97. [Medline].

2. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. Apr 9 1998;338(15):1022-7. [Medline].

3. Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, et al. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol. Jul 2003;121(7):1034-8. [Medline].

4. Melamed S, Ashkenazi I. Juvenile-onset open angle glaucoma. In: Albert D, Jakobiec F, ed. Principles and Practice of Ophthalmology. Philadelphia: WB Saunders Co; 1994:1345-9.

5. Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet. Mar 2005;26(1):17-23. [Medline].

6. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al. Identification of a gene that causes primary open angle glaucoma. Science. Jan 31 1997;275(5300):668-70. [Medline].

7. Tamm ER, Russell P. The role of myocilin/TIGR in glaucoma: results of the Glaucoma Research Foundation catalyst meeting in Berkeley, California, March 2000. J Glaucoma. Aug 2001;10(4):329-39. [Medline].

8. Tsai JC, Chang HW, Kao CN, Lai IC, Teng MC. Trabeculectomy with mitomycin C versus trabeculectomy alone for juvenile primary open-angle glaucoma. Ophthalmologica. Jan-Feb 2003;217(1):24-30. [Medline].

9. Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology. Dec 1995;102(12):1782-9. [Medline].

Keywords

juvenile glaucoma, vision loss, visual deficit, juvenile-onset open-angle glaucoma, JOAG, childhood glaucoma, myopia, goniotomy, myocilin gene, MYOC gene

Contributor Information and Disclosures

Author

David Sellers Walton, MD, Clinical Professor of Ophthalmology, Harvard Medical School; Surgeon in Ophthalmology, Massachusetts Eye and Ear Infirmary; Assistant Pediatrician, Massachusetts General Hospital
David Sellers Walton, MD is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society
Disclosure: Nothing to disclose.

Medical Editor

Gerhard W Cibis, MD, Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City
Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Martin B Wax, MD, Clinical Professor, Department of Ophthalmology, University of Texas Southwestern Medical School; Vice President, Ophthalmology Research and Development, Head, Ophthalmology Discovery Research, Alcon Labs, Inc
Martin B Wax, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Society for Neuroscience
Disclosure: Alcon Labs Salary Employment

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

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