A nearly identical syndrome (GEMSS syndrome) has been identified but with an autosomal dominant transmission.351 GEMSS is an anacronym for glaucoma ectopia lentis microspherophakia stiff joints short stature.

Tumors

Ocular tumors are not common in children, but when present, they can cause a secondary glaucoma. A variety of mechanisms may be involved: obstruction or invasion of the trabecular meshwork area by tumor cells (e.g., leukemia) or inflammatory and pigmented debris (e.g., iris rhabdomyosarcoma)352; a forward displacement of the lens–iris diaphragm caused by the increased volume of the posterior segment with resultant angle closure (e.g., choroidal metastases or medulloepithelioma),353 and rubeosis irides with neovascular glaucoma (e.g., retinoblastoma).

Retinoblastoma

Retinoblastoma is the most common intraocular tumor of infancy and childhood and usually presents with leukokoria and strabismus. Tumor cells may seed the anterior chamber, masquerading as an anterior uveitis with a pseudohypopyon.The tumor may also invade the iris and trabecular meshwork area. Rubeosis iridis is present in a number of cases.

In a large retrospective study of secondary glaucoma associated with intraocular tumors, 303 eyes with retinoblastoma were evaluated: 17% of these eyes had elevated IOPs, which were secondary to iris neovascularization in 70% of cases and to an angle closure without neovascularization in 27%.354 The commonest mechanism for the latter non-rubeotic glaucoma is extensive serous retinal detachment, with ciliary rotation of the lens–iris diaphragm inducing a secondary angle closure.

Juvenile xanthogranuloma

Juvenile xanthogranuloma (Fig. 19-43) is a benign, self-healing disorder characterized by solitary or multiple yellow-red papules on the skin and, occasionally, in other organs. It is predominantly a disease of infancy or early childhood, although adults may also be affected. Histologically, juvenile xanthogranuloma represents an accumulation of histiocytes lacking Birbeck granules (nonLangerhans cells), which can be differentiated from Langerhans cells by specific staining techniques. Affected persons have normal lipid metabolism.The patient’s general health is not impaired, and in the absence of associated conditions, the prognosis is excellent.355

Ocular involvement is seen as a vascular, yellowish-white, solitary or diffuse mass of the iris.Tumor involvement of the trabecular

Fig. 19-43  Xanthogranuloma of the iris with obstruction of the trabecular meshwork. (From the Armed Forces Institute of Pathology collection, Washington, DC.)

meshwork area and ciliary body may also occur. Involvement of the eyes is nevertheless quite rare, reportedly seen in 0.4% of cases with cutaneous involvement. Major risk factors include a new diagnosis in a child under 2 years of age with multiple skin lesions.356

The most common cause of glaucoma is a spontaneous hemorrhage into the anterior chamber; bilateral cases have been reported.357 Because the ocular lesions may disappear spontaneously, the glaucoma initially should be controlled medically if possible. The intraocular tumors often regress with subconjunctival steroid injections, especially if treated early.358 A trial of topical and systemic corticosteroids is indicated when there is no evidence of spontaneous regression during follow-up.

Inflammation

Inflammatory glaucoma can develop in infants and children much the same as in adults. A confounding issue that always requires discrimination is the relative role of the (often chronic) inflammation versus the eye’s response to steroid therapy in contributing to the elevated IOP.359