Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Retinal Disease_Wright, Spiegel, Thompson_2006
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VEIN OCCLUSIONS
Branch retinal vein occlusion in adults is typically associated with chronic systemic hypertension and occurs at arteriovenous crossings. This type of branch retinal vein occlusion is exceedingly rare in children. Branch retinal vein occlusions may occur in children in association with hyperviscosity syndromes, sickle hemoglobinopathies, and retinal venous loops. Central retinal vein occlusion in children is even less common than branch retinal vein occlusion and probably has a similar etiology.30
CONGENITAL VASCULAR LOOPS
Dilated vascular loops may be located on or near the optic disc. These loops are arterial in approximately 80% of cases and involve the inferior retinal circulation in approximately twothirds of cases (Fig. 7-14). Cilioretinal arteries are an associated finding in the majority of eyes. Complications are infrequent but include occlusion of an arterial loop with resultant branch retinal arterial occlusion, occlusion of a venous loop with result-
FIGURE 7-14. Although retinal vascular loops at the optic disc are typically arterial, venous loops may be seen in 20% of these cases.
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ant branch retinal venous occlusion, vitreous hemorrhage from traction on a loop, amaurosis fugax, and hyphema.5
Acknowledgments. The preparation of this chapter was supported in part by an unrestricted grant from Research to Prevent Blindness, Inc.
References
1.Al-abdulla NA, Haddock TA, Kerrison JB, et al. Sickle cell disease presenting with extensive perimacular arteriolar occlusions in a nine-year-old boy. Am J Ophthalmol 2001;131:275–276.
2.Alper SL, Lodish HF. Impact of molecular biology of nephrology. In: Wilson (eds) Harrison’s principles of internal medicine, 12th edn. New York: McGraw-Hill, 1991:1132.
3.Asdourian G. Vascular anomalies of the retina. In: Peyman GA, Sanders DR, Goldberg MF (eds) Principles and practices of ophthalmology. Philadelphia: Saunders, 1980:1299.
4.Benson WE, Tasman W, Duane TD. Diabetes mellitus and the eye. In: Tasman W, Jaeger EA (eds) Clinical ophthalmology, vol 3. Philadelphia: Lippincott, 1990.
5.Brown G, Tasman W. Congenital anomalies of the optic disc. New York: Grune & Stratton, 1983.
6.Chun YS, Park S, Park IK, et al. The clinical and ocular manifestations of Takyasu arteritis. Retina 2001;21(2):132–140.
7.Clarke WN, Vomiero G, Leonard BC. Bilateral simultaneous retinal arteriolar obstruction in a child wih hemoglobin SS sickle cell disease. JAAPOS 2001;5:126–128.
8.Cury D, Breakey AS, Payne BF. Allergic granulomatous angiitis associated with uveoscleritis and papilledema. Arch Ophthalmol 1956; 55:261.
9.Dickey JB, Daily MJ. Retinal telangiectasis in scapuloperoneal muscular dystrophy. Am J Ophthalmol 1991;112:348–349.
10.Farber MD, Jampol LM, Fox P, et al. A randomized clinical trial of scatter photocoagulation of proliferative sickle cell retinopathy. Arch Ophthalmol 1991;109(3):363–367.
11.Feman SS, Stein RS. Waldenstrom’s macroglobulinemia, a hyperviscosity manifestation of venous stasis retinopathy. Int Ophthalmol 1981;4(1-2):107–112.
12.Fine LC, Petrovic V, Irvine AR, et al. Spontaneous central retinal artery occlusion in hemoglobin SC disease. Am J Ophthalmol 2000; 130:680–681.
13.Font RF, Naumann G. Ocular histopathology in pulseless disease. Arch Ophthalmol 1969;82:784.
14.Font RL, Mehta RS, Streusand SB, O’Boyle TE, Kretzer FL. Bilateral retinal ischemia in Kawasaki disease. Ophthalmology 1983;90:569.
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15.Gieser SC, Murphy RP. Eales disease. In: Ryan SJ (ed) Retina, vol 2. St. Louis: Mosby, 1989:538.
16.Goldberg MF. Sickle cell retinopathy. In: Tasman W, Jeager EA (eds) Duane’s clinical ophthalmology, vol. 3. Philadelphia: Lippincott, 1990.
17.Haller JA. Coats’ disease. In: Ryan SJ (ed) Retina, vol 2. St. Louis: Mosby, 1989:491.
18.Holmes LB. Norrie’s disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness. N Engl J Med 1971;284: 367.
19.Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand 2000;78:348–353.
20.Holt JM, Gordon-Smith EC. Retinal abnormalities in diseases of blood. Br J Ophthalmol 1969;53:145.
21.Jampol LM, Lahav M, Albert DM, Craft J. Ocular clinical findings and basement membrane changes in Goodpasture’s syndrome. Am J Ophthalmol 1975;79:452.
22.Kreusel K, Krause L, Broskamp G, et al. Pars plana vitrectomy and endophotocoagulation for paracentral Coats’ disease. Retina 2001;21: 270–271.
23.Kurczynski TW, Bun JS, Johnson WE. Studies of a family with incontinentia pigmenti variously expressed in both sexes. J Med Genet 1982;19:447.
24.Luxenbourg MN, Mausolf FA. Retinal circulation in the hyperviscosity syndrome. Am J Ophthalmol 1970;70:588.
25.Matthews GP, Das A. Dense vitreous hemorrhages predict poor visual and neurological prognosis in infants with shaken baby syndrome. J Pediatr Ophthalmol Strabismus 1996;33:260–265.
26.McCabe CF, Donahue SP. Prognostic indicators for vision and mortality in shaken baby syndrome. Arch Ophthalmol 2000;118:373– 377.
27.Miller NR. Walsh and Hoyt’s clinical neuro-ophthalmology, 4th edn, vol 4. Baltimore: Williams & Wilkins, 1988:2165.
28.Mills MD. Terson syndrome. Ophthalmology 1998;105:2161–2162.
29.Nguyen JK, Brady-McCreery KM. Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti. JAAPOS 2001;5: 258–259.
30.Orth DH, Patz A. Retinal branch vein occlusion. Surv Ophthalmol 1978;22:357.
31.Ott S, Patel RJ, Appukuttan B, et al. A novel mutation in the Norrie disease gene. JAAPOS 2000;4:125–126.
31a. Pauleikhoff D, Wessing A. Long-term results of the treatment of Coats’ disease. Fortschr Ophthalmol 1989;86(5):451–455.
32.Penman AD, Talbot JF, Chaung EL, et al. New classification of peripheral vascular changes in sickle cell disease. Br J Ophthalmol 1994;78:681–689.
33.Ridgway EW, Jaffe N, Walton DS. Leukemic ophthalmopathy in children. Cancer (Phila) 1976;38:1744.
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34.Rowe PA, Mansfield DC, Dutton GN. Ophthalmic features of fourteen cases of Goodpasture’s syndrome. Nephron 1994;68:52–56.
35.Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or kust phenotype. J Child Neurol 2000;15:635–644.
36.Scheie HG. Evaluation of ophthalmoscopic changes of hypertension and arteriolosclerosis. Arch Ophthalmol 1953;49:117.
37.Schwartz MF Jr, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontentia pigmentia achromans), a neurocutaneous syndrome. J Pediatr 1977;90:236.
38.Seiberth V. Trans-scleral diode laser photocoagulation in proliferative sickle cell retinopathy. Ophthalmology 1999;106:1828–1829.
39.Shaw HE Jr, Landers MB III. Vitreous hemorrhage after intracranial hemorrhage. Am J Ophthalmol 1975;80:207.
40.Shields JA, Shields CL. The phakomatoses (the systemic hamartoses. In: Nelson LB, Calhoun JH, Harley RD (eds) Pediatric ophthalmology, 3rd edn. Philadelphia: Saunders, 1991:427.
41.Shields JA, Shields CL, Honavar SG, et al. Classification and management of Coats disease: the 2000 Proctor lecture. Am J Ophthalmol 2001;131:572–583.
42.Small RG. Coats’ disease and muscular dystrophy. Trans Am Acad Ophthalmol Otolaryngol 1968;72:225.
43.Sunness JS. The pregnant woman’s eye. Surv Ophthalmol 1988;32: 219.
44.Takanashi T, Uchida S, Arita M, et al. Orbital inflammatory pseudotumor and ischemic vasculitis in Churg–Strauss syndrome. Ophthalmology 2001;108:1129–1133.
45.Tanaka T, Shimizu K. Retinal arteriovenous shunts in Takayasu’s disease. Ophthalmology 1987;94:1380.
46.Warburg M. Norrie’s disease and falciform detachment of the retina. In: Goldberg MF (ed) Genetic diseases in ophthalmology. Boston: Little, Brown, 1974:430.
47.Watzke RC, Stevens TS, Carney RG Jr. Retinal vascular changes of incontinentia pigmenti. Arch Ophthalmol 1976;94:743.
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8
Nonvascular Hamartomas
Chittaranjan V. Reddy and Arlene V. Drack
This chapter discusses some of the nonvascular hamartomas and choristomas of the retina, retinal pigment epithelium (RPE), and choroid that may be seen in the pediatric population. Although many of the lesions discussed in this chapter are present in childhood, they are frequently discovered later in life during routine examination or when late visual symptoms
develop.
CHOROIDAL NEVUS
Choroidal nevi are tumors consisting of benign uveal melanocytes that are derived embryologically from the neural crest. Choroidal nevi are believed to be developmental tumors; they are rarely seen at birth or during infancy but increase in frequency around puberty.8 The pathogenesis of choroidal nevi is poorly understood, but they are similar to nevi involving other parts of the uveal tract. Clinically evident choroidal nevi are estimated to occur in 1% to 2% of the general population, but they are found in 6.5% of autopsied eyes.11 There is no known sexual predilection, but whites have these lesions more commonly than blacks.
Ophthalmoscopically, choroidal nevi usually appear as brown to slate gray lesions with fairly distinct margins (Fig. 8-1). However, lesions may be amelanotic or show variable pigmentation.Choroidal nevi vary from 0.5 to 10 mm in diameter, but they are usually approximately one disc area in size. Choroidal nevi are usually flat but may be elevated 1 to 3 mm. Most choroidal nevi are located posterior to the equator. In contrast, choroidal freckles, also frequently seen, are fairly indis-
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FIGURE 8-1. Choroidal nevus. Note the well-defined border of the lesion.
tinct, flat lesions. Choroidal freckles simply represent localized increased choroidal pigmentation.
Over several years, the clinical appearance of a choroidal nevus may change secondary to degeneration within the tumor or in the overlying tissue. Changes include the appearance of drusen, RPE atrophy, and pigment migration into the retina that can appear as bone spicules at the edge of the lesion. Clumps and patches of orange pigmentation can also be seen overlying the nevus (Fig. 8-2). Orange pseudohypopyon with metamorphopsia, which resolved without treatment, has been reported.16a Serous detachment of the retina, RPE detachments, and choroidal neovascular membranes (CNVM) can occur in association with choroidal nevi. Laser photocoagulation has been helpful in some cases.5 The visual prognosis is dependent on the secondary changes and on the location of the choroidal nevus. Macular lesions have the worst prognosis. For most nevi, the visual prognosis is quite good.
Choroidal nevi may undergo malignant transformation into melanomas. Over a 10-year period, approximately 1 in 500 patients with choroidal nevi develop choroidal melanoma.6 Thus, most patients with choroidal nevi do not develop melanoma. It is not clear what percentage of melanomas arise de novo and what percentage arise from preexisting choroidal
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FIGURE 8-2. Choroidal nevus with pigmentary changes and overlying drusen suggesting chronicity.
nevi. Features that are associated with an increased risk of malignant transformation include largest diameter greater than 3 mm, elevation greater than 1 to 2 mm, and overlying orange pigmentary changes.1 Suspicious lesions require examination and photography every 6 to 12 months to look for evidence of growth.
The diagnosis of a choroidal nevus is usually based on the ophthalmoscopic appearance. Echography is of little help in differentiating nevi from small melanomas. Histologically, nevi are comprised of four benign cell types (occurring in decreasing frequency): polyhedral cells, spindle cells, fusiform or dendritic cells, and balloon cells. Individual nevus cells may be pigmented or nonpigmented.
The mnemonic TFSOM (To Find Small Ocular Melanoma) has been suggested by Shields and Shields22a to help differentiate between nevi and malignancies. Thickness 2 mm, Fluid subretinally, Symptoms, Orange pigment, and Margin touching the disc are all risk factors. Tumors with no factors have a 3% chance for growth at 5 years, those with one factor have a 38% chance and those with two or more factors have a 50% chance and often require treatment as they are actually small melanomas.22a
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MELANOCYTOMA (MAGNOCELLULAR NEVUS)
The term melanocytoma refers to a dark brown or black variant of a choroidal nevus composed histopathologically of highly pigmented, plump, round to oval nevus cells. Melanocytomas can be seen anywhere in the uveal tract, but most are seen near the optic nerve head (Fig. 8-3). Although most are well circumscribed, diffuse forms of the lesion exist. It is difficult to determine the exact incidence of this unusual tumor because some may be confused with typical choroidal nevi. Melanocytomas are probably present at birth, but the diagnosis is usually made at a later age. Although there is no significant sexual predilection, there is a strong racial predisposition to melanocytomas. Approximately one-third to one-half of melanocytomas occur in blacks, in strong contrast to malignant melanomas, of which less than 1% occur in blacks. When melanocytomas occur in whites, they are usually seen in those of Hispanic or Italian descent.12
A melanocytoma of the optic nerve head is usually an incidental finding. If the lesion is fairly large, the patient may complain of slight blurring of vision. Additionally, an afferent pupillary defect and visual field abnormalities may be seen. In approximately half the cases, a typical choroidal nevus is con-
FIGURE 8-3. Typical melanocytoma of the optic nerve head with an adjacent choroidal nevus. (Courtesy of Dr. F.C. Blodi.)
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tiguous with the melanocytoma at the optic nerve head. Extrapapillary melanocytomas are quite similar to other uveal nevi but tend to be much more pigmented.
In about 15% of cases, a subtle growth of the tumor at the optic nerve head is seen. Some larger melanocytomas may also undergo necrosis and liberate pigmentary debris into the vitreous cavity. Retinal vascular occlusion at the optic nerve head can occur with melanocytomas. In extremely rare cases, malignant transformation to melanomas has been described.2,21
Diagnosis is usually made by ophthalmoscopy alone. Fundus photography, fluorescein angiography, and visual field testing may be helpful for comparison on follow-up visits. Echography is not necessary in most cases.
CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is fairly commonly seen on routine ophthalmoscopy and usually does not cause any symptoms. There are two recognized clinical forms: solitary lesions and multifocal grouped pigmentation of the RPE, also known as bear tracks. The lesions seen in these two variants are similar histologically and probably have a similar pathogenesis. The lesions are typically hyperpigmented although amelanotic lesions are seen as well.
CHRPE has no racial predilection, in contrast to choroidal nevi, choroidal melanomas, and melanocytomas, which may be related to the fact that the other tumors are derived from uveal melanocytes rather than the RPE. The diagnosis of CHRPE lesions is typically made on the basis of the clinical appearance of the lesion. Visual field testing has demonstrated defects in older individuals that are secondary to degeneration of the overlying photoreceptors. Therefore, lesions in the macula may cause visual loss with time.
Solitary CHRPE lesions are usually hyperpigmented with a sharply demarcated border that may be smooth or scalloped (Fig. 8-4). The lesions are usually flat, vary from 1 to 6 mm in diameter, and are more commonly found in the temporal fundus. CHRPE lesions may show central lacunae or peripheral depigmentation (Fig. 8-5). Overlying retinal vessels may be attenuated, but there is typically no invasion into the retina. Some solitary CHRPE lesions may be completely nonpigmented.
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FIGURE 8-4. Congenital hypertrophy of the retinal pigment epithelium (CHRPE). Note the fairly distinct border of the lesion.
FIGURE 8-5. CHRPE lesion with several hypopigmented lacunae and a surrounding halo.