Congenital Optic Disc Anomalies

  • Michael C. Brodsky
  • Robert S. Baker
  • Latif M. Hamed

Abstract

Ophthalmologists and neurologists are frequently called upon to evaluate infants and children with decreased vision resulting from congenital anomalies of the optic disc. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly. Over the past decade, new ocular and systemic associations have emerged, and theories of pathogenesis for many optic disc anomalies have been revised. Our increasing ability to subclassify different forms of excavated optic disc anomalies that were previously lumped together as colobomatous defects has further refined our ability to predict the likelihood of associated central nervous system (CNS) anomalies based solely on the appearance of the optic disc. Added to this has been the widespread clinical application of magnetic resonance (MR) imaging, which has refined our ability to identify subtle associated CNS anomalies and to predict the likelihood of associated neurodevelopmental and endocrinological problems. Based largely upon information that has emerged over the past decade, this chapter will examine the optic disc anomalies, summarize our current understanding of their pathogenesis and treatment, and detail associated neuroimaging findings that predicate the general medical management of affected children.

Keywords

Neurol Prolactin Fluorescein Cataract Dilantin 

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References

  1. 1.
    Aaby AA, Kushner BJ. Acquired and progressive myelinated nerve fibers. Arch Ophthalmol 1985; 103:542–544.PubMedGoogle Scholar
  2. 2.
    Akiba J, Kakehashi A, Hikichi T, Trempe CL. Vitreous findings of optic nerve pits and serous macular detachment. Am J Ophthalmol 1993;116:38–41.PubMedGoogle Scholar
  3. 3.
    Akiyama K, Azuma N, Hida T, Uemura Y Retinal detachment in morning glory syndrome. Ophthal Surg 1984;15:841–843.Google Scholar
  4. 4.
    Alexander TA, Billson FA. Vitrectomy and photocoagulation in the management of serous detachment associated with optic nerve pits. Aust J Ophthalmo11984;12:139-142.Google Scholar
  5. 5.
    Apple DJ, Rabb MF, Walsh PM. Congenital anomalies of the optic disc. Surv Ophthalmol 1982;27:3–41.Google Scholar
  6. 6.
    Arslanian SA, Rothfus WE, Foley TP, Becker DJ. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol 1984;139:249–254.Google Scholar
  7. 7.
    Baarsma GS. Acquired medullated nerve fibers. Br J Ophthalmol 1980;64:651.PubMedCrossRefGoogle Scholar
  8. 8.
    Baieri P, Markl A, Thelen M, et al. MR imaging in Aicardi syndrome. AJNR 1988;9:805–806.Google Scholar
  9. 9.
    Barkovich AJ, Lyon G, Evrard PL. Formation, maturation, and disorders of white matter. AJNR 1992;13:447–461.PubMedGoogle Scholar
  10. 10.
    Barry DR. Aplasia of the optic nerves. Int Ophthalmol 1985;7:235–242.PubMedCrossRefGoogle Scholar
  11. 11.
    Beauvieux J. La pseudo-atrophie optique des nouveau-nes (dysgenesie myelinique des voies optiques). Ann Ocul (Paris) 1926;163:881–921.Google Scholar
  12. 12.
    Beauvieux J. La cecite apparente chez le nouveaun6: la pseudoatrophie grise du nerf optique. Arch Ophthalmol (Paris) 1947;7:241–249.Google Scholar
  13. 13.
    Bertelsen TI. T: The Premature Synostosis of the Cranial Sutures. Acta Ophthalmol 1958;51(suppl): 65.Google Scholar
  14. 14.
    Beyer WB, Quencer RM, Osher RH. Morning glory syndrome: a functional analysis including fluorescein angiography, ultrasonography, and com puterized tomography. Ophthalmology 1982; 89:1362–1364.PubMedGoogle Scholar
  15. 15.
    Biedner B, Klemperer I, Dagan M, Yassur Y. Optic disc coloboma associated with macular hole and retinal detachment. Ann Ophthalmol 1993;25:350–352.PubMedGoogle Scholar
  16. 16.
    Blanco R, Salvador F, Galan A, Gil-Gibernau JJ. Optic nerve aplasia: report of three cases. J Pediatr Ophthalmol Strabis 1992;29:228–231.Google Scholar
  17. 17.
    Bochow TW, Olk RJ, Knupp JA, Smith ME. Spontaneous reattachment of a total retinal detachment in an infant with microphthalmos and an optic nerve coloboma. Am J Ophthalmol1991;112:347–349.PubMedGoogle Scholar
  18. 18.
    Bonnet M. Serous macular detachment associated with optic nerve pits. Arch Clin Exp Ophthalmol 1991;229:526–532.CrossRefGoogle Scholar
  19. 19.
    Breusch SR, Arey LB. The number of myelinated and unmyelinated fibers in the optic nerves of vertebrates. J Comput Neurol 1942;77:631–665.CrossRefGoogle Scholar
  20. 20.
    Brodsky MC, Buckley EG, Rosell-McConkie A. The case of the gray optic disc! Surv Ophthalmol 1989;33:367–372.Google Scholar
  21. 21.
    Brodsky MC, Glasier CM, Pollock SC, et al. Optic nerve hypoplasia: identification by magnetic resonance imaging. Arch Ophthalmol 1990;108:562–567.Google Scholar
  22. 22.
    Brodsky MC. Septo-optic dysplasia: a reappraisal. Semin Ophthalmol 1991;6:227–232.CrossRefGoogle Scholar
  23. 23.
    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.PubMedGoogle Scholar
  24. 24.
    Brodsky MC, Schroeder GT, Ford R. Superior segmental optic hypoplasia in identical twins. J Clin Neuro-Ophthalmol 1993;13:152–154.Google Scholar
  25. 25.
    Brodsky MC, Glasier CM, Creel DJ. Magnetic resonance imaging of the visual pathways in human albinos. J Pediatr Ophthalmol Strabis 1993;30:382–385.Google Scholar
  26. 26.
    Brodsky MC. Morning glory disc anomaly or optic disc coloboma. Arch Ophthalmol 1994;112:153. Letter.PubMedGoogle Scholar
  27. 26a.
    Brodsky MC, Wilson RS. Retinal arteriovenous communications in the morning glory disk anomaly. Arch Ophthalmol 1995;115:410–411.Google Scholar
  28. 27.
    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.PubMedGoogle Scholar
  29. 27a.
    Brodsky MC. Congenital optic disc anomalies. Surv Opthamol 1994;39:89–112.CrossRefGoogle Scholar
  30. 28.
    Brown BC, Shields JA, Patty BE, Goldberg RE. Congenital pits of the optic nerve head. I: experimental studies in collie dogs. Arch Ophthalmol 1979;97:1341–1344.PubMedGoogle Scholar
  31. 29.
    Brown G, Tasman W. Congenital Anomalies of the Optic Disc. New York, NY: Grune & Stratton; 1983:31–215.Google Scholar
  32. 30.
    Brown GC, Shields JA, Goldberg RE. Congenital pits of the optic nerve head. Il. clinical studies in humans. Ophthalmology 1980;87:51–65.PubMedGoogle Scholar
  33. 31.
    Bullard DE, Crockard HA, McDonald WI. Spontaneous cerebrospinal fluid rhinorrhea associated with dysplastic optic discs and a basal encephalocoele. J Neurosurg 1981;54:807–810.PubMedCrossRefGoogle Scholar
  34. 32.
    Bynke H, Holmdahl G. Megalopapilla: a differential diagnosis in suspected optic atrophy. Neuroophthalmology 1981;2:53–57.CrossRefGoogle Scholar
  35. 33.
    Caldwell JBH, Sears ML, Gilman M. Bilateral peripapillary staphyloma with normal vision. Am J Ophthalmol 1971;71:423–425.PubMedGoogle Scholar
  36. 34.
    Calhoun FP. Bilateral coloboma of the optic nerve associated with holes in the disc and a cyst of the optic nerve sheath. Arch Ophthalmol 1930;3:71–79.Google Scholar
  37. 35.
    Caprioli J, Lesser RL. Basal encephalocoele and morning glory syndrome. Br J Ophthalmol 1983; 67:349–351.PubMedCrossRefGoogle Scholar
  38. 36.
    Carney SH, Brodsky MC, Good WV, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol 1993;37:419–424.PubMedCrossRefGoogle Scholar
  39. 37.
    Cennamo G, Sammartino A, Fioretti F. Morning glory syndrome with contractile peripapillary staphyloma. Br J Ophthalmol 1983;67:346-348.Google Scholar
  40. 38.
    Chang M. Pits and crater-like holes of the optic disc. Ophthal Semin 1976;1:21-61.Google Scholar
  41. 39.
    Chang S, Haik BG, Ellsworth RM, et al. Treatment of total retinal detachment in morning glory syndrome. Am J Ophthalmol 1984;97:596-600.Google Scholar
  42. 40.
    Chestler RJ, France TD. Ocular findings in the CHARGE syndrome. Ophthalmology 1988;95: 1613-1619.Google Scholar
  43. 41.
    Chevrie JJ, Aicardi J. The Aicardi syndrome. In: Pedley TA, Meldrum BS, eds. Recent Advances in Epilepsy. New York, NY: Churchill Livingston; 1986:189-210.Google Scholar
  44. 42.
    Cockburn DM. Tilted disc and medullated nerve fibers. Am J Optom Physiol Opt 1982;59:760-761. 43. Cogan DG. Coloboma of optic nerve with overlay of peripapillary retina. Br J Ophthalmol 1978; 62:347-350.Google Scholar
  45. 44.
    Collier M. Communications sur le sujet du rapport les doubles papilles optiques. Bull Soc Optalmol Fr 1958;328-252.Google Scholar
  46. 45.
    Corbett JJ, Savino PJ, Schatz NJ, Orr LS. Cavitary developmental defects of the optic disc: visual loss associated with optic pits and colobomas. Arch Neurol 1980;37:210-213.Google Scholar
  47. 46.
    Costin G, Murphree AL. Hypothalamic pituitary dysfunction in children with optic nerve hypoplasia. AJDC 1985;143:249-254.Google Scholar
  48. 47.
    Cox MS, Witherspoon D, Morris RE, Flynn HW. Evolving techniques in treatment of macular detachment caused by optic nerve pits. Ophthalmology 1988;95:889-896.Google Scholar
  49. 48.
    Dailey JR, Cantore WA, Gardner TW. Peripapillary choroidal neovascular membrane associated with an optic disc coloboma. Arch Ophthalmol 1993;111:441-442.Google Scholar
  50. 49.
    De Jong PTVM, Bistervels B, Cosgrove J, et al. Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin’s) syndrome. Arch Ophthalmol 1985;103:1833-1836.Google Scholar
  51. 50.
    de Morsier G. Etudes sur les dysraphies cranioencephaliques. III. agenesis du septum lucidum avec malformation du tractus optique. La dysplasie septo-optique. Schweiz Arch Neurol Psychiatr 1956;77:267-292.Google Scholar
  52. 51.
    Dempster AG, Lee WR, Forrester JV McCreath GT. The “morning glory syndrome.“ A mesodermal defect? Ophthalmologica 1983;187:222-230.Google Scholar
  53. 52.
    Diebler C, Dulac 0. Cephalocoeles. clinical and neuroradiological appearance. Neuroradiology 1983;25:199-216.Google Scholar
  54. 53.
    Donaldson DD, Bennett N, Anderson DR, Eckelhoff R. Peripapillary staphyloma. Arch Ophthalmol 1969;82:704-705.Google Scholar
  55. 54.
    Donnenfeld 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.Google Scholar
  56. 55.
    Donoso LA, Magargal LE, Eiferman RA, Meyer D. Ocular anomalies simulating double optic discs. Can J Ophthalmol 1981;16:84-87.Google Scholar
  57. 56.
    Dreher B, Sefton AJ, Ni SYK, et al. The morphology, number, distribution, and central projections of class I retinal ganglion cells in albinos and hooded rats. Brain Behav Evol 1985;26:10-48.Google Scholar
  58. 57.
    Duke-Elder S. Congenital deformities. In: System of Ophthalmology. St. Louis, MO: C.V. Mosby Co; 1963;3:661.Google Scholar
  59. 58.
    Ellis GS, Frey T, Gouterman RZ. Myelinated nerve fibers, axial myopia, and refractory amblyopia: an organic disease. J Pediatr Ophthalmol Strabis 1987;24:111-119.Google Scholar
  60. 59.
    Eustis HS, Sanders MR, Zimmerman T. Morning glory syndrome in children. Arch Ophthalmol 1994;112:204-207.Google Scholar
  61. 60.
    Ferry AP Macular detachment associated with congenital pit of the optic nerve head. Arch Ophthalmol 1963;70:346-357.Google Scholar
  62. 61.
    Font RL, Zimmerman LE. Intrascleral smooth muscle in coloboma of the optic disc. Am J Ophthalmol 1971;72:452-457.Google Scholar
  63. 62.
    Foster JA, Lam S. Contractile optic disc coloboma. Arch Ophthalmol 1991;109:472-473.Google Scholar
  64. 63.
    Franceschetti A, Bock RH. Megalopapilla: a new congenital anomaly. Am J Ophthalmol 1950; 33:227-235.Google Scholar
  65. 64.
    Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin 1968;8:797-816. 65. Francois J. Myelinated Nerve Fibers. Heredity in Ophthalmology. St. Louis, MO: Mosby-Year Book; 1961:494-496.Google Scholar
  66. 66.
    Friberg TR, McClellan TG. Vitreous pulsations,. relative hypotony, and retrobulbar cyst associated with a congenital optic pit. Am J Ophthalmol 1992;114:767-768.Google Scholar
  67. 67.
    Frisen L, Holmegaard L. Spectrum of optic nerve hypoplasia. Br J Ophthalmol 1975;62:7-15.Google Scholar
  68. 68.
    Fuchs E. fiber den anatomischen Befund einiger angeborener Anomalien der Netzhaut and des Sehnerven. Albrecht Von Graefes Arch Opthalmol 1917;93:1.Google Scholar
  69. 69.
    Gardner TW, Zaparackas ZG, Naidich TP Congenital optic nerve colobomas: CT demonstration. J Comput Assisted Tomogr 1984;8:95-102.Google Scholar
  70. 70.
    Gass JDM. Serous detachment of the macula: secondary to congenital pit of the optic nervehead. Am J Ophthalmol 1969;67:821-841.Google Scholar
  71. 71.
    Ginsberg J, Bove KE, Cuesta MG. Aplasia of the optic nerve with aniridia. Ann Ophthalmol 1980; 12:433-439.Google Scholar
  72. 72.
    Gloor P, Pulido JS, Judisch GF. Magnetic resonance imaging and fundus findings in a patient with Aicardi’s syndrome. Arch Ophthalmol 1989; 107:922-923.Google Scholar
  73. 73.
    Goldberg RE. Optic nerve pit and associated coloboma with serous detachment. Arch Ophthalmo11974;91:160-161.Google Scholar
  74. 74.
    Goldhammer Y, Smith JL. Optic nerve anomalies in basal encephalocele. Arch Ophthalmol 1975; 93:115-118.Google Scholar
  75. 75.
    Goldsmith J. Neurofibromatosis associated with tumors of the optic papilla. Arch Ophthalmol 1949;41:718-729.Google Scholar
  76. 76.
    Graether JM. Transient amaurosis in one eye with simultaneous dilatation of retinal veins. Arch Ophthalmol 1963;70:342-345.Google Scholar
  77. 77.
    Grimson BS, Perry DD. Enlargement of the optic disk in childhood optic nerve tumors. Am J Ophthalmol 1984;97:627-631.Google Scholar
  78. 78.
    Haik BG, Greenstein SH, Smith ME, et al. Retinal detachment in the morning glory syndrome. Ophthalmology 1984;91:1638-1647.Google Scholar
  79. 79.
    Hall-Craggs MA, Harbord MG, Finn JP, et al. Aicardi syndrome: MR assessment of brain structure myelination. AJNR 1990;11:532-536.Google Scholar
  80. 80.
    Handmann M. Erbliche, vermutlich angeborene zentrale gliose entartung des sehnerven mit besonderer beteilgung der zentralgefasse. Klin Monatsbl Augenheilkd 1929;83:145.Google Scholar
  81. 81.
    Hanna CE, Mandel SH, LaFranchi SH. Puberty in the syndrome of septo-optic dysplasia. ADJC 1989;143:186-189.Google Scholar
  82. 82.
    Harris MJ, De Bustros S, Michels RG, Joondeph HC. Treatment of combined traction-rhegmatogenous retinal detachment in the morning glory syndrome. Retina 1984;4:249-252.Google Scholar
  83. 83.
    Hatten ME, Mason CA. Mechanisms of glial guided neuronal migration in vitro and in vivo. Experientia 1990;46:907-916.Google Scholar
  84. 84.
    Heckenlively JR, Martin DA, Rosenbaum AL. Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital station ary night blindness. Am J Ophthalmol 1983;96: 526-534.Google Scholar
  85. 85.
    Henkind PL. Craterlike holes of the optic nerve. Am J Ophthalmol 1963;55:613-615.Google Scholar
  86. 86.
    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.Google Scholar
  87. 87.
    Hittner HM, Kretzer FL, Antoszyk JH, et al. Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Ophthalmol 1982;93:57-70.Google Scholar
  88. 88.
    Hittner HM, Antoszyk JH. Unilateral peripapillary myelinated nerve fibers with myopia and/or amblyopia. Arch Ophthalmo11987;105:943-948.Google Scholar
  89. 89.
    Hod M, Diamant YZ. The offspring of a diabetic mother: short and long-range implications. Isr J Med Sci 1992;28:81-86.Google Scholar
  90. 90.
    Hoff J, Winestock D, Hoyt WF. Giant suprasellar aneurysm associated with optic stalk agenesis and unilateral anophthalmos. J Neurosurg 1975;43: 495-498.Google Scholar
  91. 91.
    Hope-Ross M, Johnston SS. The morning glory syndrome associated with sphenoethmoidal encephalocele. Ophthal Pediatr Genet 1990; 2:147153.1990.Google Scholar
  92. 92.
    Hotchkiss ML, Green WR. Optic nerve aplasia and hypoplasia. J Pediatr Ophthalmol Strabismus 1979;16:225-240.Google Scholar
  93. 93.
    Hoyt CS, Billson F, Ouvrier R, et al. Ocular features of Aicardi’s syndrome. Arch Ophthalmol 1978;96:291-295.Google Scholar
  94. 94.
    Hoyt CS, Billson FA. Optic nerve hypoplasia: changing perspectives. Aust New Zealand J Ophthalmol 1986;14:325-331.Google Scholar
  95. 95.
    Hoyt CS, Good WV Do we really understand the difference between optic nerve hypoplasia and atrophy? Eye 1992;6:201-204.Google Scholar
  96. 96.
    Hoyt WF, Kaplan SL, Grumback MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970;2:893-894.Google Scholar
  97. 97.
    Hoyt WF, Rios-Montenegro EN, Behrens MM, Eckelhoff RJ. Homonymous hemioptic hypoplasia: funduscopic features in standard and red-free illumination in three patients with congenital hemiplegia. Br J Ophthalmol 1972;56:537-545.Google Scholar
  98. 98.
    Hoyt WF. Congenital occipital hemianopia. Neuroophthalmol Jpn 1985;2:252-259.Google Scholar
  99. 99.
    Igidbashian V, Mahboubi S, Zimmerman RA. Clinical Images: CT and MR findings in Aicardi syndrome. J Comput Assisted Tomogr 1987;11:357358.Google Scholar
  100. 100.
    Irvine AR, Crawford JB, Sullivan JH. The pathogenesis of retinal detachment with morning glory disc and optic pit. Retina 1986;6:146-150. 101.Izenberg N, Rosenblum M, Parks JS. The endocrine spectrum of septo-optic dysplasia. Clin Pediatr 1984;23:632-636.Google Scholar
  101. 102.
    Javitt JC, Spaeth GL, Katz LJ, et al. Acquired pits of the optic nerve. Ophthalmology 1990;97:10381044.Google Scholar
  102. 103.
    Jonas JB, Gusek GC, Guggenmoss-Holzmann I, Naumann GO. Variability of the real dimensions of normal human optic discs. Graefes Arch Clin Exp Ophthalmol 1988;226:332-336.Google Scholar
  103. 104.
    Jonas JB, Zach FM, Gusek GC, Naumann GOH. Pseudoglaucomatous physiologic optic cups. Am J Ophthalmol 1989;107:137-144.Google Scholar
  104. 105.
    Jonas JB, Koniszewski G, Naumann GO. “Morning glory syndrome“ and “Handmann’s anomaly in congenital macropapilla.“ Extreme variants of con fluent optic pits. Klin Monatsbl Augenheilkd 1989; 195:371-374.Google Scholar
  105. 106.
    Keane JR. Suprasellar tumors and incidental optic disc anomalies: diagnostic problems in two patients with hemianopic temporal scotomas. Arch Ophthalmol 1977;95:2180-2183.Google Scholar
  106. 107.
    Kelly WM, Kucharczyk W, Kucharczyk J, et al. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. Am J Neuroradiol 1988;9:453-460.Google Scholar
  107. 108.
    Kim RY, Hoyt WF, Lessell S, Narahara MH. Superior segmental optic hypoplasia: a sign of maternal diabetes. Arch Ophthalmol 1989;107:1312-1315.Google Scholar
  108. 109.
    Kindler P Morning glory syndrome: unusual congenital optic disk anomaly. Am J Ophthalmol 1970;69:376-384.Google Scholar
  109. 110.
    Koenig SP, Naidich TP, Lissner G. The morning glory syndrome associated with sphenoidal encephalocele. Ophthalmology 1982;89:1368-1372.Google Scholar
  110. 111.
    Konstas P, Katikos G, Vatakas LC. Contractile peripapillary staphyloma. Ophthalmologica 1971; 172:379-381.Google Scholar
  111. 112.
    Kral K, Svarc D. Contractile peripapillary staphyloma. Am J Ophthalmol 1971;71:1090-1092.Google Scholar
  112. 113.
    Kranenburg EW Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol 1960;64:912-924.Google Scholar
  113. 114.
    Kronish JW, Tse DT. Basal cell nevus syndrome. In: Gold DH, Weingeist, TA, eds. The Eye in Systemic Disease. Philadelphia, PA: J.B. Lippincott; 1990;583-585.Google Scholar
  114. 115.
    Kushner BJ. Functional amblyopia associated with abnormalities of the optic nerve. Arch Ophthalmol 1985;102:683-685.Google Scholar
  115. 116.
    Lambert SR, Hoyt CS, Narahara MH. Optic nerve hypoplasia. Surv Ophthalmol 1987;32:1-9.Google Scholar
  116. 117.
    Lee KJ, Peyman GA. Surgical management of retinal detachment associated with optic nerve pit. Int Ophthalmol 1993;17:105-107.Google Scholar
  117. 118.
    Lewin ML, Schuster MM. Transpalatal correction of basilar meningocele with cleft palate. Arch Surg 1965;90:687-693.Google Scholar
  118. 119.
    Limaye SR. Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar’s syndrome). Eye, Ear, Nose Throat Monthly 1972;51:28-31.Google Scholar
  119. 120.
    Lin CCL, Tso MOM, Vygantas CM. Coloboma of the optic nerve associated with serous maculopathy: a clinicopathologic correlative study. Arch Ophthalmol 1984;102:1651-1654.Google Scholar
  120. 121.
    Lincoff H, Lopez R, Kreissig 1, et al. Retinoschisis associated with optic nerve pits. Arch Ophthalmol 1988;106:61-67.Google Scholar
  121. 122.
    Lincoff H, Yannuzzi L, Singerman L, et al. Improvement in visual function after displacement of the retinal elevation emanating from optic pits. Arch Ophthalmol 1993;111:1071-1079.Google Scholar
  122. 123.
    Little LE, Whitmore PV Wells TW Jr. Aplasia of the optic nerve. J Pediatr Ophthalmol 1976;13:8488.Google Scholar
  123. 124.
    Longfellow DW, Davis SD, Walsh FB. Unilateral intermittent blindness with dilation of retinal veins. Arch Ophthalmol 1962;67:554.Google Scholar
  124. 125.
    Mafee MF, Jampol LM, Langer BG, Tso MOM. Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst. Radiol Clin of North Am 1987;25:693-699.Google Scholar
  125. 126.
    Maisel JM, Pearlstein CS, Adams WH, Heotis DM. Large optic discs in the Marshallese population. Am J Ophthalmol 1989;107:145-150.Google Scholar
  126. 127.
    Mann I. Developmental Abnormalities of the Eye. Philadelphia, PA: JB Lippincott;1957:74-91.Google Scholar
  127. 128.
    Manor RS, Kesler A. Optic nerve hypoplasia, big discs, large cupping, and vascular malformation embolized: 22 years of follow-up. Arch Ophthalmol 1993;111:901-902.Google Scholar
  128. 129.
    Manschot WA. Morning glory syndrome: a histopathological study. Br J Ophthalmol 1990;74: 56-58. 130. Margalith D, Tze WJ, Jan JE. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. AJDC 1985;139:361-366.Google Scholar
  129. 131.
    Margo CE, Hamed LM, McCarty J. Congenital optic tract syndrome. Arch Ophthalmol 1991;109: 1120-1122.Google Scholar
  130. 132.
    Margo CE, Hamed LM, Fang E, and Dawson WW. Optic nerve aplasia. Arch Ophthalmol 1992;110: 1610-1613.Google Scholar
  131. 133.
    McDonald HR, Schatz H, Johnson RN. Treatment of retinal detachment associated with optic nerve pits. Int Ophthalmol Clin 1992;32:35-42.Google Scholar
  132. 134.
    Miller NR. Walsh and Hoyt’s Clinical Neuro-ophthalmology. 4th ed. Baltimore, MD: Williams & Wilkins Co; 1982j: 343-369.Google Scholar
  133. 135.
    Molina JA, Mateos F, Merino M, et al. Aicardi syndrome in two sisters. J Pediatr 1989;115:282283.Google Scholar
  134. 136.
    Mosier MA, Lieberman MF, Green WR, Knox DL. Hypoplasia of the optic nerve. Arch Ophthalmol 1978;96:1437-1442.Google Scholar
  135. 137.
    Neidich JA, Nussbaum RL, Packer RJ, et al. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 1990;116: 911-917.Google Scholar
  136. 138.
    Nelson M, Lessell S, Sadun AA. Optic nerve hypoplasia and maternal diabetes mellitus. Arch Neuro11986;43:20-25.Google Scholar
  137. 139.
    Novakovic P, Taylor DSI, Hoyt WF. Localizing patterns of optic nerve hypoplasia-retina to occipital lobe. Br J Ophthalmol 1988;72:176-182.Google Scholar
  138. 140.
    Nucci P, Mets MB, Gabianelli EB. Trisomy 4q with morning glory anomaly. Ophthalmic Pediatr Genet 1990;2:143-145.Google Scholar
  139. 141.
    Orcutt JC, Bunt AH. Anomalous optic discs in a patient with a Dandy-Walker cyst. J Clin Neuroophthalmol 1982;2:43-47.Google Scholar
  140. 142.
    Osher RH, Schatz NJ. A sinister association of the congenital tilted disc syndrome with chiasmal compression. In: Smith JL, ed. Neuro-ophthalmol ogy Focus 1980. New York, NY: Masson;1979: 117-123.Google Scholar
  141. 143.
    Pagon RA. Ocular coloboma. Surv Ophthalmol 1981;25:223-236.Google Scholar
  142. 144.
    Pagon RA, Graham JM, Zonana J, Yong Sui-Li. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:233-227.Google Scholar
  143. 145.
    Pedler C. Unusual coloboma of the optic nerve entrance. Br J Ophthalmol 1961;45:803-807.Google Scholar
  144. 146.
    Petersen RA, Walton DS. Optic nerve hypoplasia with good visual acuity and visual field defects: a study of children of diabetic mothers. Arch Ophthalmol 1977;95:254-258.Google Scholar
  145. 147.
    Petersen RA, Holmes LB. Optic nerve hypoplasia in infants of diabetic mothers. Arch Ophthalmol 1986;104:1587.Google Scholar
  146. 148.
    Pollock JA, Newton TH, Hoyt WF. Transsphenoidal and transethmoidal encephaloceles: a review of clinical and roentgen features in 8 cases. Radiology 1968;90:442-453.Google Scholar
  147. 149.
    Pollock S. The morning glory disc anomaly: contractile movement, classification, and embryogenesis. Doc Ophthalmol 1987;65:439-460.Google Scholar
  148. 150.
    Provis JM, Van Driel D, Billson FA, Russell P Human fetal optic nerve: overproduction and elimination of retinal axons during development. J Comput Neuro11985;238:92-100.Google Scholar
  149. 151.
    Rack JH, Wright GF. Coloboma of the optic nerve entrance. Br J Ophthalmol 1966;50:705-709.Google Scholar
  150. 152.
    Ragge N, Hoyt WF, Lambert SR. Big discs with optic nerve hypoplasia. J Clin Neuro-ophthalmol 1991;11:137.Google Scholar
  151. 153.
    Ragge NK, Barkovich AJ, Hoyt WF, et al. Isolated congenital hemianopia caused by prenatal injury to the optic radiation. Arch Neurol 1991;48:10881091.Google Scholar
  152. 154.
    Ribeiro-da-Silva J, Castanheira-Dinis A, Agoas V, Dodinho-de-Matos J. Congenital optic disc deformities. A clinical approach. Ophthalmic Pediatr Genet 1985;5:67-70.Google Scholar
  153. 155.
    Risse JF, Guillaume JB, Boissonnot M, Bonneau D. Un syndrome polymalformatif inhabituel: 1 association charge a un morning glory syndrome Unilateral Ophtalmol 1989;3:196-198.Google Scholar
  154. 156.
    Romano PE. Simple photogrammetric diagnosis of optic nerve hypoplasia. Arch Ophthalmol 1989; 107:824-826.Google Scholar
  155. 157.
    Rosenberg LF, Burde RM. Progressive visual loss caused by an arachnoidal brain cyst in a patient with an optic nerve coloboma. Am J Ophthalmol 1988;106:322-325.Google Scholar
  156. 158.
    Rubenstein K, Ali M. Complications of optic disc pits. Trans Ophthalmol Soc UK 1978;98:195-200. 159. Russell-Eggitt IM, Blake KD, Taylor DSI, Wyse RKH. The eye in the CHARGE association. Br J Ophthalmol 1990;74:421-426.Google Scholar
  157. 160.
    Savell J, Cook JR. Optic nerve colobomas of autosomal dominant heredity. Arch Ophthalmol 1979; 94:395-400.Google Scholar
  158. 161.
    Schatz H, McDonald HR. Treatment of sensory retinal detachment associated with optic nerve pit or coloboma. Ophthalmology 1988, 95:178-186. 161a.Schatz MP, Pollock SC. Optic disc morphology in albinism. Presented as a poster at the North American Neuro-ophthamology Society, Durango, CO, February 27-March 3, 1994.Google Scholar
  159. 162.
    Scheie HG, Adler FH. Aplasia of the optic nerve. Arch Ophthalmol 1941;26:61-70.Google Scholar
  160. 163.
    Seybold ME, Rosen PN. Peripapillary staphyloma and amaurosis fugax. Ann Ophthalmol 1977;9: 139-141.Google Scholar
  161. 164.
    Sherlock DA, McNicol LR. Anesthesia and septooptic dysplasia. Anesthesia 1987;143:186-189. 165. Silver J, Sapiro J. Axonal guidance during development of the optic nerve: the role of pigmented epithelia and other factors. J Comput Neurol 1981; 202:521-538.Google Scholar
  162. 166.
    Singh D, Verma A. Bilateral peripapillary staphyloma (ectasia). Ind J Ophthalmol 1978;25:50-51. 167. Skarf B, Hoyt CS. Optic nerve hypoplasia in children. Arch Ophthalmol 1984;102:255-258.Google Scholar
  163. 168.
    Slade HW, Weekley RD. Diastasis of the optic nerve. J Neurosurg 1957;14:571-574.Google Scholar
  164. 169.
    Slamovits TL, Kimball GP, Friberg TR, Curtin HD. Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm. J Clin Neuro-ophthalmo11989;9:172-177.Google Scholar
  165. 170.
    Snead CM. Congenital division of the optic nerve at the base of the skull. Arch Ophthalmol 1915; 44:418-120.Google Scholar
  166. 171.
    Snead MP, James N, Jacobs PM. Vitrectomy, argon laser, and gas tamponade for serous retinal detachment associated with an optic disc pit: a case report. Br J Ophthalmol 1991;75:381-382.Google Scholar
  167. 172.
    Sobol WM, Bratton AR, Rivers MB, Weingeist TA. Morning glory disk syndrome associated with subretinal neovascularization. Am J Ophthalmol 1990;110:93-94.Google Scholar
  168. 173.
    Sobol WM, Blodi CF, Folk JC, Weingeist TA. Long-term visual outcome in patients with optic nerve pit and serous retinal detachment of the macula. Ophthalmology 1990;97:1539-1542.Google Scholar
  169. 174.
    Spedick MJ, Beauchamp GR. Retinal vascular and optic nerve abnormalities in albinism. J Pediatr Ophthalmol Strabis 1986;23:58-62.Google Scholar
  170. 175.
    Steinkuller PG. The morning glory disc anomaly. Case report and literature review. J Pediatr Ophthalmol Strabismus 1980;17:81-87.Google Scholar
  171. 176.
    Storm RL, PeBenito R. Bilateral optic nerve aplasia associated with hydroencephaly. Ann Ophthalmol 1984;16:988-992.Google Scholar
  172. 177.
    Straatsma BR, Foos FY, Heckenlively JR, Taylor GN. Myelinated retinal nerve fibers. Am J Ophthalmol 1981;91:25-38.Google Scholar
  173. 178.
    Streletz LJ, Schatz NJ. Trassphenoidal encephalocele associated with colobomas of the optic disc and hypopituitary dwarfism. In: Smith JL, Glaser JS, ed. Neuro-Ophthalmology Symposium of the University of Miami and the Bascom Palmer Eye Institute. St Louis, MO: CV Mosby;1973;7:78-86. 179. Sugar HS. Congenital pits of the optic disc with acquired macular pathology. Am J Ophthalmol 1962;53:307-311.Google Scholar
  174. 180.
    Sugar HS. Congenital pits of the optic disc and their equivalents (congenital colobomas and colobomalike excavations) associated with sub macular fluid. Am J Ophthalmo11967;63:298-307.Google Scholar
  175. 181.
    Sugar HS, Beckman H. Peripapillary staphyloma with respiratory pulsations. Am J Ophthalmol 1969;68:895–897.PubMedGoogle Scholar
  176. 182.
    Tagawa T, Mimaki T, Ono J, et al. Aicardi syndrome associated with an embryonal carcinoma. Pediatr Neurol 1989;5:45–47.PubMedCrossRefGoogle Scholar
  177. 183.
    Takida A, Hida T, Kimura C, et al. A case of bilateral morning glory syndrome with total retinal detachment. Folia Ophthalmol Japonica 1981;32: 1177–1182.Google Scholar
  178. 184.
    Taylor D. Congenital tumors of the anterior visual pathways. Br J Ophthalmol 1982;66:455–463.PubMedCrossRefGoogle Scholar
  179. 185.
    Taylor D. Optic Nerve, Pediatric Ophthalmology. Cambridge, MA: Blackwell Scientific Publications; 1990:441–466.Google Scholar
  180. 186.
    Theodossiadis G. Evolution of congenital pit of the optic disc and macular detachment in photocoagulated and non-photocoagulated eyes. Am J Ophthalmol 1977;84:620–631.PubMedGoogle Scholar
  181. 187.
    Theodossiadis GP, Kollia AK, Theodossiadis PG. Cilioretinal arteries in conjunction with a pit of the optic disc. Ophthalmologica 1992;204:115-121.Google Scholar
  182. 188.
    Traboulsi EI, O’Neill JF. The spectrum in the morphology of the so-called “morning glory disc anomaly.“ J Pediatr Ophthalmol Strabismus 1988; 25:93–98.PubMedGoogle Scholar
  183. 189.
    Traboulsi El, Lim JI, Pyeritz R, et al. A new syndrome of myelinated nerve fibers vitreoretinopathy and skeletal malformations. Arch Ophthalmol 1993;111:1543–1545.PubMedGoogle Scholar
  184. 190.
    Tuft SJ, Clemmet RS. Dysplastic optic disc in association with transphenoidal encephalocoele and hypopituitary dwarfism: a case report. Aust J Ophthalmol 1983;11:309–313.PubMedCrossRefGoogle Scholar
  185. 191.
    Van Nouhuys JM, Bruyn GW Nasopharyngeal transsphenoidal encephalocoele, craterlike hole in the optic disc and agenesis of the corpus callosum pneumoencephalographic visualisation in a case. Psychiat Neurol Neurochir 1964;67:243–258.Google Scholar
  186. 192.
    von Fricken MA, Dhungel R. Retinal detachment in the morning glory syndrome: pathogenesis and management. Retina 1984;4:97–99.CrossRefGoogle Scholar
  187. 193.
    Vuori M-L. Morning glory disc anomaly with pulsating peripapillary staphyloma. A case history. Acta Ophthalmol 1987;65:602–606.Google Scholar
  188. 194.
    Von Szily A. Die Obntogenese der idiopathiachen (erbbildlichen Spaltbildungen des Auges des Mikrophthalmus and der Orbitalcysten), Z Anat Entwicklungsgesch 1924;74:1–230.CrossRefGoogle Scholar
  189. 195.
    Warburg M. Update of sporadic microphthalmos and coloboma. Ophthalmic Pediatr Genet 1992; 13:111–122.CrossRefGoogle Scholar
  190. 196.
    Weiter JJ, McLean IW, Zimmerman LE. Aplasia of the optic nerve and disk. Am J Ophthalmol 1977; 83:569–576.PubMedGoogle Scholar
  191. 197.
    Wiggins RE, von Noorden GK, Boniuk M. Optic nerve coloboma with cyst. A case report and review. J Pediatr Ophthalmol Strabismus 1991; 28:274–277.PubMedGoogle Scholar
  192. 198.
    Williams J, Brodsky MC, Griebel M, et al. Septooptic dysplasia: clinical significance of an absent septum pellucidum. Dev Med Child Neurol 1993; 35:490–501.PubMedCrossRefGoogle Scholar
  193. 199.
    Williams TD. Medullated retinal nerve fibers: speculations on their cause and presentation of cases. Am J Optometry Physiolog Optics 1986; 63:142–151.Google Scholar
  194. 200.
    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.PubMedGoogle Scholar
  195. 201.
    Wise JB, Maclean AL, Gass JDM. Contractile peripapillary staphyloma. Arch Ophthalmol 1966; 75:626–630.PubMedGoogle Scholar
  196. 202.
    Yanoff M, Rorke LB, Allman MI. Bilateral optic system aplasia with relatively normal eyes. Arch Ophthalmol 1978;96:97–101.PubMedGoogle Scholar
  197. 203.
    Yokota A, Matsukado Y, Fuwa I, et al. Anterior basal encephalocele of the neonatal and infantile period. Neurosurgery 1986;19:468–478.PubMedCrossRefGoogle Scholar
  198. 204.
    Young SE, Walsh FB, Knox DL. The tilted disc syndrome. Am J Ophthalmol 1976;82:16–23.PubMedGoogle Scholar
  199. 205.
    Zeki SM. Optic nerve hypoplasia and astigmatism: a new association. Br J Ophthalmol 1990;74:297–299.PubMedCrossRefGoogle Scholar
  200. 206.
    Zeki SM, Dudgeon J, Dutton GN. Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia. Br J Ophthalmol 1991;75:538–541.PubMedCrossRefGoogle Scholar
  201. 207.
    Zeki SM, Dutton GV Optic nerve hypoplasia in children. Brit J Ophthalmol 1990;74:300–304.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag New York, Inc. 1996

Authors and Affiliations

  • Michael C. Brodsky
    • 1
    • 2
  • Robert S. Baker
    • 3
  • Latif M. Hamed
    • 4
  1. 1.Jones Eye InstituteUniversity of Arkansas for Medical SciencesLittle RockUSA
  2. 2.Arkansas Children’sHospital Little RockUSA
  3. 3.University of Kentucky Medical CenterLexingtonUSA
  4. 4.Section of Pediatric OphtalmologyUniversity of Florida College of MedicineGainesvilleUSA

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