Medulloepithelioma, Childhood

Introduction

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 glaucomasTraumatic 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).

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.

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