Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Neuro-Ophthalmology_Wright, Spiegel, Thompson_2006
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PAPILLORENAL SYNDROME
Incidence
Unknown. Twenty-two families are reported in the literature.60 This syndrome may be underrecognized as patients are often misdiagnosed as having glaucoma, colobomas, or atypical morning glory anomalies.
Clinical Features
Ophthalmoscopically, the disc appears excavated with multiple peripheral cilioretinal arteries.60 The central retinal vasculature is often absent or rudimentary. When central retinal vessels are observed ophthalmoscopically, Doppler ultrasonography often reveals entry of these central vessels into the nerve near the globe, indicating their origin as aberrant cilioretinal vessels. Patients often have superonasal visual field defects that correspond with inferotemporal areas of hypoplastic retina with anomalous retinal and choroidal perfusion.60 Peripapillary serous retinal detachments may occur.
Associated Features
Associated renal anomalies include renal hypoplasia, renal hypertension, renal failure, and recurrent pyelonephritis.60 Renal disease may be subclinical.
Etiology
Unknown. Parsa et al.60 hypothesized that a primary deficiency in vascular development compromises growth of the ocular and renal circulations.
Inheritance
Autosomal dominant. Some pedigrees harbor the PAX2 mutation.60
Clinical Assessment
Renal function studies followed by Doppler spectral studies of renal blood flow if conventional studies are normal.60 Renal angiography may also be indicated.60
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Treatment
Prophylactic reduction of systemic blood pressure should be considered if resistance to renal blood flow is abnormally high.60
Prognosis
Unknown.
Acknowledgment. This work was supported in part by a grant from Research to Prevent Blindness, Inc.
References
1.Apple DJ, Rabb MF, Walsh PM. Congenital anomalies of the optic disc. Surv Ophthalmol 1982;27:3–41.
2.Arslanian SA, Rothfus WE, Foley TP, Becker DJ. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol 1984;107:282–288.
3.Baieri P, Markl A, Thelen M, et al. MR imaging in Aicardi syndrome. ANJR 1988;9:805–806.
4.Beauvieux J. La cecite apparente chez le nouveau-ne: la psuedoatrophie grise du nerf optique. Arch Ophthalmol (Paris) 1947;7:241–249.
5.Beauvieux J. La pseudo-atrophie optique des nouveaunes (dysgenesie myelinique des voies optiques). Ann Ocul (Paris) 1926;163:881–921.
6.Beyer WB, Quencer RM, Osher RH. Morning glory syndrome: a functional analysis including fluorescein angiography, ultrasonography, and computerized tomography. Ophthalmology 1982;89:1362–1364.
7.Brodsky MC. Magnetic resonance imaging of colobomatous optic hypoplasia. Br J Ophthalmol 1999;83:755–756.
8.Brodsky MC. Periventricular leukomalacia: an intracranial cause of pseudoglaucomatous cupping. Arch Ophthalmol 2001;119:626.
9.Brodsky MC. Septo-optic dysplasia: a reappraisal. Semin Ophthalmol 1991;6:227–232.
10.Brodsky MC, Buckley EG, McConkie-Rosell A. The case of the gray optic disc! Surv Ophthalmol 1989,33:367–372.
11.Brodsky MC, Conte FA, Taylor D, et al. Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol 1997;115:66–70.
12.Brodsky MC, Glasier CM. Optic nerve hypoplasia: clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol 1993;111:66–74.
13.Brodsky MC, Glasier CM, Pollock SC, et al. Optic nerve hypoplasia: identification by magnetic resonance imaging. Arch Ophthalmol 1990;108:562–567.
14.Brodsky MC, Hoyt WF, Hoyt CS, et al. Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele. Arch Ophthalmol 1995;113:624–628.
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15.Brodsky MC, Schroeder GT, Ford R. Superior segmental optic hypoplasia in identical twins. J Clin Neuroophthalmol 1993;13:152–154.
16.Brown G, Tasman W. Congenital anomalies of the optic disc. New York: Grune & Stratton, 1983.
17.Brown GC, Shields JA, Goldberg RE. Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology 1980;87: 51–65.
18.Brown GC, Shields JA, Patty BE, et al. Congenital pits of the optic nerve head. I. Experimental studies in collie dogs. Arch Ophthalmol 1979;97:1341–1344.
19.Carney SH, Brodsky MC, Good WV, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol 1993;37:419–424.
20.Chevrie JJ, Aicardi J. The Aicardi syndrome. In: Pedley TA, Meldrum BS (eds) Recent advances in epilepsy. New York: Churchill Livingston, 1986.
21.Costin G, Murphree AL. Hypothalamic-pituitary dysfunction in children with optic nerve hypoplasia. AJDC (Am J Dis Child) 1985;139:249–254.
22.De Morsier G. Etudes sur les dysraphies cranio-encephaliques. III. Agenesis du septum lucidum avec malformation du tractus optique. La dysplasie septo-optique. Schweitz Arch Neurol Psychiatry 1956; 77:267–292.
23.Dempster AG, Lee WR, Forrester JV, et al. The ‘morning glory syndrome’: a mesodermal defect? Ophthalmologica 1983;187:222– 230.
24.Donnenfield AE, Packer RJ, Zackai EH, et al. Clinical, cytogenetic and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 1989;32:461–467.
25.Franceschetti A, Bock RH. Megalopapilla. A new congenital anomaly. Am J Ophthalmol 1950;33:227–235.
26.Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin 1968;8:797–816.
27.Frisen L, Holmegaard L. Spectrum of optic nerve hypoplasia. Br J Ophthalmol 1975;62:7–15.
28.Goldhammer Y, Smith JL. Optic nerve anomalies in basal encephalocele. Arch Ophthalmol 1975;93:115–118.
29.Grimson BS, Perry DD. Enlargement of the optic disc in childhood optic nerve tumors. Am J Ophthalmol 1984;97:627–631.
30.Haik BG, Greenstein SH, Smith ME, et al. Retinal detachment in the morning glory disc anomaly. Ophthalmology 1984;91:1638–1647.
31.Hall-Craggs MA, Harbord MG, Finn JP, et al. Aicardi syndrome: MR assessment of brain structure myelination. AJNR (Am J Neuroradiol) 1990;11:532–536.
32.Hittner HM, Borda RP, Justice J. X-linked recessive congenital stationary night blindness, myopia, and tilted discs. J Pediatr Ophthalmol Strabismus 1981;18:15–20.
33.Hodgkins P, Lees M, Lawson J, et al. Optic disc anomalies and frontonasal dysplasia. Br J Ophthalmol 1998;82:290–293.
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34.Hoyt CS, Billson F, Ouvrier R, et al. Ocular features of Aicardi’s syndrome. Arch Ophthalmol 1978;96:291–295.
35.Hoyt CS, Billson FA. Optic nerve hypoplasia: Changing perspectives. Aust NZ J Ophthalmol 1986;14:325–331.
36.Hoyt WF, Kaplan SL, Grumback MM, et al. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970;2:893–894.
37.Irvine AR, Crawford JB, Sullivan JH. The pathogenesis of retinal detachment with morning glory disc and optic pit. Retina 1986; 6:146–150.
38.Izenberg N, Rosenblum M, Parks JS. The endocrine spectrum of septo-optic dysplasia. Clin Pediatr 1984;23:632–636.
39.Jacobson L, Hellstrom A, Flodmark O. Large cups in normal-sized optic discs: a variant of optic nerve hypoplasia in children with periventricular leukomalacia. Arch Ophthalmol 1997;115:1263– 1269.
40.Javitt JC, Spaeth GL, Katz LJ, et al. Acquired pits of the optic nerve. Ophthalmology 1990;97:1038–1044.
41.Jonas JB, Zach F, Gusek GC, et al. Pseudoglaucomatous physiologic optic cups. Am J Ophthalmol 1989;107:137–144.
42.Keane JR. Suprasellar tumors and incidental optic disc anomalies: diagnostic problems in two patients with hemianopic temporal scotomas. Arch Ophthalmol 1977;2180–2183.
43.Kim RY, Hoyt WF, Lessell S, Narahara MH. Superior segmental optic hypoplasia: a sign of maternal diabetes. Arch Ophthalmol 1989;107: 1312–1315.
44.Kindler P. Morning glory syndrome: unusual congenital optic disc anomaly. Am J Ophthalmol 1970;69:376–384.
45.Kral K, Svarc D. Contractile peripapillary staphyloma. Am J Ophthalmol 1971;71:1092–1094.
46.Lambert SR, Hoyt CS, Narahara MH. Optic nerve hypoplasia. Surv Ophthalmol 1987;32:1–9.
47.Lin CCL, Tso MOM, Vygantas CM. Coloboma of optic nerve associated with serous maculopathy: a clinicopathologic correlative study. Arch Ophthalmol 1984;102:1651–1654.
48.Lincoff H, Lopez R, Kreissig I, et al. Retinoschisis associated with optic nerve pits. Arch Ophthalmol 1988;106:61–67.
49.Lincoff H, Yanuzzi L, Singerman L, et al. Improvement in visual function after displacement of the retinal elevations emanating from optic pits. Arch Ophthalmol 1993;111:1071–1079.
50.Mafee MF, Jampol LM, Langer BG, et al. Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst. Radiol Clin North Am 1987;25:693–699.
51.Maisel JM, Pearlstein CS, Adams WH, et al. Large optic discs in the Marshallese population. Am J Ophthalmol 1989;107:145–150.
52.Margalith D, Tze WJ, Jan JE. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. AJDC (Am J Dis Child) 1985;139: 361–366.
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53.McDonald HR, Schatz H, Johnson RN. Treatment of retinal detachment associated with optic nerve pits. Int Ophthalmol Clin 1992; 32:35–42.
54.Miller NR. Walsh and Hoyt’s clinical neuro-opthalmology, 4th edn, vol I. Baltimore: Williams & Wilkins, 1982.
55.Molina JA, Mateos F, Merino M, et al. Aicardi syndrome in two sisters. J Pediatr 1980;115:282–283.
56.Neidich JA, Nussbaum RL, Packer RJ, et al. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 1990;116:911–917.
57.Novakovic P, Taylor DSI, Hoyt WF. Localizing patterns of optic nerve hypoplasia—retina to occipital lobe. Br J Ophthalmol 1988; 72:176–182.
58.Osher RH, Schatz NJ. A sinister association of the congenital tilted disc syndrome with chiasmal compression. In: Smith JL (ed) Neuroophthalmology focus 1980. New York: Masson, 1979.
59.Pagon RA. Ocular coloboma. Surv Ophthalmol 1981;25:223–236.
60.Parsa CF, Silva ED, Sundin OH, et al. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology 2001;108:738–749.
61.Phillips PH, Speer C, Brodsky MC. Magnetic resonance diagnosis of congenital hypopituitarism in children with optic nerve hypoplasia. J Am Assoc Pediatr Ophthalmol Strabismus 2001;5(5):275–280.
62.Pollack JA, Newton JH, Hoyt WF. Transsphenoidal and transethmoidal encephaloceles: a review of clinical and roentigen features in 8 cases. Radiology 1968;90:442–453.
63.Pollock S. The morning glory disc anomaly: contractile movement, classification, and embryogenesis. Doc Ophthalmol 1988;65:439–460.
64.Savell J, Cook JR. Optic nerve colobomas if autosomal dominant heredity. Arch Ophthalmol 1976;94:395–400.
65.Scheie HG, Adler FH. Aplasia of the optic nerve. Arch Ophthalmol 1941;26:61–70.
66.Sorkin JA, Davis PC, Meacham LR, et al. Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. Am J Ophthalmol 1996; 122:717–723.
67.Stefko ST, Campochiaro P, Wang P, et al. Dominant inheritance of optic pits. Am J Ophthalmol 1997;124:112–113.
68.Streiff B. Uber Megalopapillae. Klin Monatsbl Augenheilkd 1961;139: 824–827.
69.Taylor D. Congenital tumors of the anterior visual pathways. Br J Ophthalmol 1982;66:455–463.
70.Taylor D. Pediatric ophthalmology, 1st edn. London: Blackwell, 1990.
71.Traboulsi EI, O’Neill JF. The spectrum of the so-called “morning glory disc anomaly.” J Pediatr Ophthalmol Strabismus 1988;25: 93–98.
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72.Williams J, Brodsky MC, Greibel M. Septo-optic dysplasia: clinical insignificance of an absent septum pellucidum. Dev Med Child Neurol 1993;35:490–501.
73.Willis R, Zimmerman LE, O’Grady R, et al. Heterotopic adipose tissue and smooth muscle in the optic disc, association with isolated colobomas. Arch Ophthalmol 1972;88:139–146.
74.Young Se, Walsh FB, Knox DL. The tilted disc syndrome. Am J Ophthalmol 1976;82:16–23.
7
Cortical Visual Impairment
Susan M. Carden and William V. Good
Cortical visual impairment (CVI) is the most common cause of bilateral visual impairment in children in the developed world.1 In less-affluent countries, the incidence is increasing because the survival rate of premature babies is improving. As a consequence, the mortality of children with complex medical problems has begun to decline.18 Retinopathy of prematurity (ROP) is also a major cause of visual handicap: its rate is increasing, and it may become the commonest cause of visual impairment in children. A risk factor for CVI is prematurity, which is also a risk for ROP. Thus, these two disease processes often
coexist.
CVI is defined as visual impairment caused by damage to the central nervous system. Visual acuity is reduced as a result of a disease process that does not involve the ocular structures.9
HISTORICAL PERSPECTIVE
CVI has come into prominence recently partly because of its increasing incidence and also the greater understanding that is being developed of the pathophysiology. Whiting, Jan, and Wong first coined the term cortical visual impairment in 198519; before then, the problem was referred to as cortical blindness. Cortical blindness is a term more relevant to adults who experience a devastating injury to their occipital cortices. Infants and children who experience such insults tend not to be blind but rather impaired. Their brains are still growing, and as a consequence some aspects of their vision improve over time.
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INCIDENCE
Cortical visual impairment is now recognized as the most frequent cause of bilateral visual impairment in the Western world. The Blind Babies Foundation of Northern California has found that, in children under 5 years of age with visual impairment, CVI is the most prominent causative factor.15 The Oxford Registry of Early Childhood Impairments found that nearly 30% of children with bilaterally poor vision had CVI.16 In Liverpool (U.K.), it was found that in children with neurological disorders and visual impairment, CVI was the most common cause of poor vision.17 A study in 1996 in the Nordic countries found that brain damage is causing an increasing number of children to have visual impairment.18
ETIOLOGY: PATHOPHYSIOLOGY, HISTOPATHOLOGY
The cause of CVI can be diverse: hypoxia-ischemia; congenital brain malformation (schizencephaly, holoprosencephaly, lissencephaly)3; central nervous system infection (meningitis, encephalitis); blockage of a ventriculo-peritoneal shunt; head injury, particularly that resulting from child abuse10; or metabolic derangements.12
Hypoxia-Ischemia
The most common cause of CVI is an hypoxic-ischemic event. The consequence of an hypoxic-ischemic event can best be assessed by the age at which the insult occurred. At each age level, a different area of the brain is more susceptible to damage in an hypoxic-ischemic event.
In premature babies, the germinal matrix is most at risk of being damaged.6 The germinal matrix is a watershed area of the brain, but only in preterm babies. It is situated in the walls of the lateral ventricles. The optic radiations are supplied with blood from the germinal matrix, as are the long motor tracts. Thus, the preterm baby who suffers CVI is very likely to also have cerebral palsy.1 Periventricular leukomalacia ensues after an hypoxic-ischemic event in preterm babies (Fig. 7-1).
In the term infant, an hypoxic-ischemic insult is more likely to affect the watershed area of the brain, which is now an area
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FIGURE 7-1. Preterm infant brain with periventricular leukomalacia.
including the striate cortex (see Fig. 7-2). In term children, an hypoxic-ischemic insult causing permanent CVI is much less common.
Shunt Blockage
Ventriculoperitoneal shunt blockage has been described as a cause of CVI.4 The occipital lobes become infarcted because the posterior cerebral arteries are compressed against the edge of the tentorium.13
Twin Pregnancy
A risk factor for CVI is twin pregnancy.6 Twin pregnancy increases the risk of premature birth, which is a risk factor for CVI in itself. There is an even higher chance of prematurity if the twins are monozygotic.2 Twin–twin transfusion syndrome can occur if the twins are monozygous and also share one pla-
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FIGURE 7-2. Term infant with multicystic encephalomalacia.
centa (monochorionic).5 If one twin dies, then there may be an acute twin–twin transfusion of blood to the dead fetus. The surviving fetus may become hypovolemic and develop neurological abnormalities as a consequence. Emboli and thromboplastin from the dead fetus may enter the survivor’s circulation and induce disseminated intravascular coagulation.14 The developing brain is then exposed to hypoxia-ischemia.
CLINICAL FEATURES
Neurobehavioral characteristics, or mannerisms, exhibited by children with CVI are helpful in deciding the position of a lesion in the visual pathways. These behaviors tend to be adaptations to the anatomic defect.7
Differential Diagnosis
The differential diagnoses of CVI are varied, and include conditions in which the child appears to have poor vision but either