Primary pediatric glaucoma associated with systemic disease 121
Primary pediatric glaucoma associated with systemic disease
Lowe’s syndrome
ETIOLOGY AND DIAGNOSIS
Lowe’s syndrome, or oculocerebrorenal syndrome, is a rare form of congenital glaucoma which affects males with a female carrier state (X-linked recessive trait). Affected males may develop cataracts, glaucoma, aminoaciduria, and mental retardation. The syndrome can present with acidosis in infancy. The female carrier state is characterized by fine punctate lens opacities. In affected males, cataract is nearly always present, but the presence of glaucoma is more variable. Diagnosis can be made by clinical ocular findings in association with aminoaciduria. Affected patients show similar angle deformities as are seen in other forms of pediatric glaucoma.
MANAGEMENT/TREATMENT AND PROGNOSIS
Most children with Lowe’s syndrome will require surgery to control the intraocular pressure. The combination of glaucoma and cataract makes this an especially difficult glaucoma to treat. Many patients experience poor outcomes due to the coexistence of glaucoma and cataracts.
Sturge–Weber syndrome
ETIOLOGY AND DIAGNOSIS
Sturge–Weber syndrome consists of facial nevus flammeus of the upper eyelid and abnormalities in the vascularity of the leptomeninges. The glaucoma is usually unilateral on the side of the nevus flammeus, but bilateral involvement has been reported (151). Neurologic manifestations include seizures, paralysis, and visual field defects from intracranial involvement. A choroidal hemangioma may be present and is visible on funduscopic examination.
The cause of glaucoma in Sturge–Weber syndrome is debatable. Theories include an elevation of episcleral venous pressure or angle maldevelopment. It is likely that both play some role.
MANAGEMENT/TREATMENT AND PROGNOSIS
Medical and surgical treatment may be needed in many patients. With early diagnosis and treatment, IOP can often be controlled. Because the disease is often unilateral, amblyopia occurs in many cases. Rapid choroidal expansion and hemorrhage may complicate intraocular surgical intervention and can be sight threatening.
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151 Sturge–Weber syndrome.Note the lack of right upper eyelid involvement.Fundus examination and IOP have remained normal.
122 CHAPTER 9 Glaucoma
Neurofibromatosis
ETIOLOGY AND DIAGNOSIS
Neurofibromatosis type 1 is an AD disease with variable expressivity. The cause of glaucoma in neurofibromatosis is not known. Theories include angle infiltration and angle maldevelopment similar to other forms of glaucoma that occur in children.
Café-au-lait spots are commonly noted on the trunk early in life, often within the first year (152). Lisch nodules of the iris are also common but typically appear later, often just prior to the onset of puberty (153). Both findings are often seen on routine physical examination of the otherwise well child. The glaucoma associated with this syndrome is congenital, unilateral, and typically occurs in the setting of eyelid plexiform neuroma involvement.
MANAGEMENT/TREATMENT AND PROGNOSIS
Medical therapy is usually tried first and surgical intervention is necessary if medical management fails. The response to conventional angle surgery is usually poor and more aggressive surgical measures may be required.
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153 Lisch nodules in neurofibromatosis-1.
152 Café-au-lait spots in neurofibromatosis-1.
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Pediatric glaucoma associated with ocular anomalies 123 |
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Pediatric glaucoma |
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associated with ocular |
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anomalies |
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As noted in Table 12, there are many ocular anomalies that coexist with pediatric glaucoma. Many of these anomalies occur in the setting of systemic syndromes with multisystem involvement, making early detection a priority for the primary care provider caring for these children.
Axenfeld–Rieger syndrome
ETIOLOGY AND DIAGNOSIS
Axenfeld–Rieger syndrome (A-RS) is part of the spectrum of the anterior chamber cleavage disorders (iridocorneal dysgenesis). Usage of the term A-RS implies inclusion of the systemic manifestations of this bilateral, congenital ocular developmental disorder. These include dental anomalies (154), skull and skeletal dysplasia, and umbilical abnormalities. Developmental abnormalities of the anterior segment lead to increased IOP. Loci on chromosomes 4q25, 6p25, and 13q14 have been linked to A-RS. Family history is common, with an AD mode of inheritance.
Bilateral ocular involvement is noted with glaucoma occurring in more than half of affected patients. Ocular defects include posterior embryotoxon (Axenfeld’s anomaly), which often can be seen without magnification. Iris defects are commonly noted and include corectopia (155), iris stromal hypoplasia, and iridocorneal process formation (156). Polycoria may also be seen. Many patients appear to have previously undergone anterior segment eye surgery or to have sustained eye trauma.
PROGNOSIS
Glaucoma usually occurs later in the first decade of life. With careful follow-up, it is possible to detect early rises in IOP, which allows for early treatment. Many patients will require surgery.
154 Dental anomalies inAxenfeld–Rieger syndrome.
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155 Corectopia inAxenfeld–Rieger’s anomaly.
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156 Iridocorneal adhesions inAxenfeld–Rieger’s anomaly.
124 CHAPTER 9 Glaucoma
Aniridia
ETIOLOGY AND DIAGNOSIS
Aniridia is a bilateral disorder in which the iris is partially or nearly totally absent. Two forms of aniridia exist: sporadic and familial. Familial aniridia is inherited in an AD pattern with near complete penetrance. A genetic mutation in the PAX6 gene leads to the development of aniridia. The association with Wilm’s tumor has been well described in sporadic aniridia and rarely reported in the familial form of the disease.
A small rudimentary stump of iris is often visible only with the microscope. The affected child appears to have extremely dilated pupils (157). Glaucoma occurs in at least 50% of patients with aniridia. Aniridia is a panocular disorder and not only a disorder of the iris. Multiple ocular defects also occur which include microcornea, cataracts, and macular hypoplasia with nystagmus and poor visual function.
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157 Aniridia.Corneal opacification was noted in the left eye with coexisting elevation of IOP at birth. Angle surgery was required in this eye at 1 week of age.Glaucoma is now controlled but vision in the left eye remains limited by corneal surface abnormalities.
MANAGEMENT/TREATMENT AND PROGNOSIS
Medical therapy can be tried initially, followed by surgical intervention in refractory cases. Successful control of aniridic glaucoma is often difficult to achieve. Limbal stem cell deficiency can lead to severe ocular surface abnormalities even in the absence of glaucoma (158). This can compromise the corneal surface in a patient with poor baseline visual function, making early diagnosis and management of dry eye and related corneal problems critical. Genetic testing should be performed on affected individuals to ascertain their risk for the development of Wilm’s tumor. Patients at risk should undergo serial renal ultrasound testing.
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158 Ocular surface abnormalities in aniridia occur as a result of limbal stem cell deficiency and in this patient initially presented with unilateral conjunctivitis at age 8 months.Punctal occlusion and topical cyclosporine have resulted in improved patient comfort in both eyes with relative preservation of vision in the right eye (20/100).Vision is 20/400 in the left eye (shown).IOP remains normal in both eyes with topical medication.