Introduction
Background
Juvenile glaucoma is a rare juvenile-onset open-angle glaucoma (JOAG) often found associated with myopia that shows autosomal dominant transmission. This entity does not include other childhood glaucomas outlined below in the listing of other primary developmental and secondary childhood glaucomas.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
Increased intraocular pressure (IOP) is caused by impaired outflow of aqueous humor through the trabecular meshwork into the Schlemm canal. On clinical examination, the filtration tissues appear normal in persons with juvenile glaucoma. Pathologic examination has found thickened tissue and abnormal deposit of extracellular tissue between the anterior chamber and the Schlemm canal.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).
More on Glaucoma, Juvenile |
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References
Tawara A, Inomata H. Developmental immaturity of the trabecular meshwork in juvenile glaucoma. Am J Ophthalmol. Jul 15 1984;98(1):82-97. [Medline].
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].
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].
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.
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].
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].
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].
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].
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].
Further Reading
Keywords
juvenile glaucoma, vision loss, visual deficit, juvenile-onset open-angle glaucoma, JOAG, childhood glaucoma, myopia, goniotomy, myocilin gene, MYOC gene
