Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Retinal Disease_Wright, Spiegel, Thompson_2006

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FIGURE 6-11. Familial exudative vitreoretinopathy with “dragged disc” appearance and tractional retinal detachment.

heterotopia) (Fig. 6-11). Subretinal exudates occur in only 10% to 15% of affected eyes. Retinal detachments are predominantly tractional in the first decade of life and rhegmatogenous in the second decade. The overall incidence of retinal detachment varies from 4% to 30%.29 An ectopic macula is present in up to one-half of patients and causes a positive angle kappa. Vitreous abnormalities include posterior vitreous detachments with vitreous bands transmitting traction to the retina and thickened vitreous membranes over avascular retina.39 Mild cases can lack vitreous abnormalities, and more than 50% of affected patients have entirely normal vitreous examinations.44

Fundus fluorescein angiography or angioscopy is often necessary to identify the avascular retinal areas in minimally affected patients. Retinal vessels present at the scalloped edge often leak and pool as the angiogram progresses. Defective platelet aggregation was reported in one FEVR family,10 but subsequent reports have not substantiated this association.

FIGURE 6-10A–C. Great variability of expression in familial exudative vitreoretinopathy makes diagnosis difficult in minimally affected family members. Posterior pole of an obligate carrier reveals only “straightening” of retinal vessels (A). Examination of the temporal periphery reveals cessation of retinal vessels in a scalloped edge (B) easily demonstrated by angiography or angioscopy (C).

Pathophysiologically, the primary abnormality is probably abnormal maturation of the retinal vasculature and not an inherent defect in vitreous formation or function. The earliest findings in familial exudative vitreoretinopathy appear to be nonperfusion of the peripheral temporal retina with stretched retinal blood vessels and shunting with vascular leakage.39 Secondary vitreous changes over the nonperfused areas of retina cause tractional retinal detachments that lead to visual loss.

Management of familial exudative vitreoretinopathy should include early screening and identification of affected individuals in known families. The majority of retinal detachments occur in the first decade of life, and very little progression occurs after age 10. Patients with the largest areas of nonperfused retinas are at greatest risk. Cryotherapy to large areas of avascular retina and scleral buckling surgery for tractional retinal detachments may be required. Genetic counseling is also important because asymptomatic affected patients can have severely affected children.

HEREDITARY SNOWFLAKE VITREORETINAL DEGENERATION OF HIROSE

Hirose et al. described familial snowflake vitreoretinal degeneration in 1974.22 The disease is named after white, snowflake-like spots that are 100 to 200 m in diameter and appear in areas of “white without pressure” (Fig. 6-12). The “snowflakes” often do not appear until after the age of 25 years, and thus the diagnosis is difficult to exclude in younger patients. Hirose’s pedigree and subsequent reports have demonstrated autosomal dominant inheritance with variable expressivity.

Ocular findings include cataracts in all patients studied over 35 years of age. Nuclear sclerosis, cortical opacities, and posterior subcapsular plaques may be seen. Younger patients have fine swirling vitreous strands and liquefaction of the gel. In older patients, vitreous strands become more prominent, and posterior vitreous detachment is common. Four ophthalmoscopically distinct stages have been described. Stage I is extensive “white with pressure” in the retinal periphery. Stage II is characterized by snowflake-like spots, extending from the equator to the ora serrata. Some of these appear to be crystalline and lie in the superficial layers of the retina. The surface of the affected retina is elevated with “crater-like areas.” Stage III is

CHAPTER 6: DISORDERS OF THE VITREOUS AND VITREORETINAL INTERFACE 195

FIGURE 6-12. White and yellow-white granular-like deposits of the peripheral retina, 100–200 m in size, characteristic of snowflake degeneration. (Courtesy of Dr. D.M. Robertson, Published courtesy of Ophthalmology 1982;89:1515.)

characterized by sheathing of retinal vessels in the area of the snowflake degeneration. The vessels become “white threads” in the periphery. Clumps of black, irregularly shaped pigment appear around the posterior margin of the snowflake degeneration. Stage IV is characterized by increased pigmentary changes and disappearance of retinal vessels. Snowflake degeneration is associated with an increased incidence of retinal detachment, and surgical repair is rarely successful.

Although patients do not complain of nyctalopia, snowflake degeneration is associated with constriction of the visual field and elevation of rod thresholds in dark adaptation tests.23 Electroretinography demonstrates a decreased amplitude of the scotopic b-wave in almost all patients.

Management consists of cataract extraction when the lens changes become visually significant and routine peripheral retinal examinations. Because retinal detachments are common and are associated with poor outcomes, laser photocoagulation is recommended for any type of retinal break.35 No treatment is indicated for the snowflake degenerative changes alone.

Robertson and colleagues reported 10 patients in four families with lesions similar to those of stage I and stage II snowflake generation.37 These patients did not have associated vitreous traction and did not progress to arteriolar attenuation. Robert-

CHAPTER 6: DISORDERS OF THE VITREOUS AND VITREORETINAL INTERFACE 197

FIGURE 6-14. Peripheral hyperpigmentation with no defined distinct posterior border, arteriolar attenuation, and pale optic nerve in a patient with end-stage autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV). (Courtesy of Dr. J.C. Folk. Published courtesy of Ophthalmology 1990;97:1128.)

detachments. Patients have no systemic abnormalities and do not complain of nyctalopia. Electroretinography is normal in younger individuals and only moderately affected in older patients.3

Cystoid macular edema or vitreous hemorrhage can occur in children as young as age 7 years with ADViRC. The condition progresses slowly and is not associated with retinal detachments.

Bennett and colleagues described a similar entity in 1990 that they called autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV).2 The ADNIV gene has recently been mapped to chromosome 11q13.43 ADNIV, like ADViRC, has prominent cystoid macular edema, generalized leakage from retinal vessels, peripheral retinal neovascularization, closure of peripheral retinal vessels, pigmentary changes in the retina including both hyperpigmentation and hypopigmentation, vitreous cells and hemorrhage, and cataracts.13 Unlike ADViRC, electroretinography shows selective loss of the b-wave in all patients. Other distinctive features of ADNIV include anterior uveitis, development of neovascular glaucoma, and tractional retinal detachments in up to 20% of patients. The pigmentary changes of ADNIV do not have the distinct posterior boundary of ADViRC (Fig. 6-14).

In contrast to ADViRC, which appears to remain stable, ADNIV is a progressive disease. Patients with ADNIV are generally asymptomatic until their midtwenties, but vitreous cells can be observed biomicroscopically and a selective loss of the b-wave can be seen with electroretinography. Later, peripheral retinal scarring and pigmentation, peripheral arteriolar closure, and neovascularization of the peripheral retina or optic disc develop. Cystoid macular edema, vitreous hemorrhage, tractional retinal detachment, and neovascular glaucoma can cause profound visual loss. Vitrectomy is often necessary to repair the retinal detachments.

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