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Congenital Disc Anomalies

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Abstract

Congenital anomalies of the optic nerve are frequently encountered and overlooked in optic nerve disorders. Optic discs can be abnormally small, as in optic nerve hypoplasia, or very large, as in megalopapilla. Localized disc abnormalities can be in the form of segmental optic nerve hypoplasia, homonymous hemioptic hypoplasia, or congenitally tilted discs.

Various excavations of the disc consist of morning glory disc anomalies, optic disc colobomas, peripapillary staphylomas, and optic disc pits and dysplasias. It is important to recognize that some congenital disc abnormalities are associated with systemic disorders that affect mortality. For example, the morning glory disc anomaly is associated with transsphenoidal encephalocele that can cause panhypopituitarism.

Elevated disc anomalies, such as disc drusen, hyaloid system remnants, and myelinated nerve fibers, can mimic other acquired optic neuropathies, such as papilledema, which can be an urgent neuro-ophthalmic problem. Congenital disc pigmentation should also be distinguished from other malignant melanocytic lesions. Therefore, it is important to recognize and understand the differentiating features of congenital and acquired optic neuropathies to avoid expensive workups to rule out serious disorders for accurate diagnosis and treatment. The type of developmental abnormality determines the visual prognosis.

Keywords

Optic Disc Retinal Nerve Fiber Layer Visual Field Defect Visual Evoke Potential Myelinated Nerve Fiber 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Lambert SR, Hoyt CS, Narahara MH. Optic nerve hypoplasia. Surv Ophthalmol. 1987;32(1):1–9.PubMedGoogle Scholar
  2. 2.
    Hotchkiss ML, Green WR. Optic nerve aplasia and hypoplasia. J Pediatr Ophthalmol Strabismus. 1979;16(4):225–40.PubMedGoogle Scholar
  3. 3.
    Mosier MA, Lieberman MF, Green WR, Knox DL. Hypoplasia of the optic nerve. Arch Ophthalmol. 1978;96(8):1437–42.PubMedGoogle Scholar
  4. 4.
    Gardner HB, Irvine AR. Optic nerve hypoplasia with good visual acuity. Arch Ophthalmol. 1972;88(3):255–8.PubMedGoogle Scholar
  5. 5.
    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(2):254–8.PubMedGoogle Scholar
  6. 6.
    Zeki SM. Optic nerve hypoplasia and astigmatism: a new association. Br J Ophthalmol. 1990;74(5):297–9.PubMedCentralPubMedGoogle Scholar
  7. 7.
    Brodsky MC, Glasier CM. Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol. 1993;111(1):66–74.PubMedGoogle Scholar
  8. 8.
    Hoyt WF, Kaplan SL, Grumbach MM, et al. Septo-optic dysplasia and pituitary dwarfism. Lancet. 1970;1(7652):893–4.PubMedGoogle Scholar
  9. 9.
    Brodsky MC, Glasier CM, Pollock SC, et al. Optic nerve hypoplasia. Identification by magnetic resonance imaging. Arch Ophthalmol. 1990;108(11):1562–7.PubMedGoogle Scholar
  10. 10.
    Arslanian SA, Rothfus WE, Foley Jr TP, et al. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol (Copenh). 1984;107(2):282–8.Google Scholar
  11. 11.
    Izenberg N, Rosenblum M, Parks JS. The endocrine spectrum of septo-optic dysplasia. Clin Pediatr (Phila). 1984;23(11):632–6.Google Scholar
  12. 12.
    Margalith D, Tze WJ, Jan JE. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. Am J Dis Child. 1985;139(4):361–6.PubMedGoogle Scholar
  13. 13.
    Novakovic P, Taylor DS, Hoyt WF. Localising patterns of optic nerve hypoplasia: retina to occipital lobe. Br J Ophthalmol. 1988;72(3):176–82.PubMedCentralPubMedGoogle Scholar
  14. 14.
    Skarf B, Hoyt CS. Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS. Arch Ophthalmol. 1984;102(1):62–7.PubMedGoogle Scholar
  15. 15.
    Hoyt WF. Congenital occipital hemianopia. Neuro Ophthalmol Jpn. 1985;2:252–9.Google Scholar
  16. 16.
    Ragge NK, Barkovich AJ, Hoyt WF, et al. Isolated congenital hemianopia caused by prenatal injury to the optic radiation. Arch Neurol. 1991;48(10):1088–91.PubMedGoogle Scholar
  17. 17.
    Taylor D. Congenital tumours of the anterior visual system with dysplasia of the optic discs. Br J Ophthalmol. 1982;66(7):455–63.PubMedCentralPubMedGoogle Scholar
  18. 18.
    Francheschetti A, Bock RH. Megalopapilla; a new congenital anomaly. Am J Ophthalmol. 1950;33(2):227–35.Google Scholar
  19. 19.
    Jonas JB, Gusek GC, Guggenmoos-Holzmann I, Naumann GO. Size of the optic nerve scleral canal and comparison with intravital determination of optic disc dimensions. Graefes Arch Clin Exp Ophthalmol. 1988;226(3):213–5.PubMedGoogle Scholar
  20. 20.
    Bynke H, Homdahl G. Megalopapilla: a differential diagnosis in suspected optic atrophy. Neuro Ophthalmol. 1971;71:423–5.Google Scholar
  21. 21.
    Grimson BS, Perry DD. Enlargement of the optic disk in childhood optic nerve tumors. Am J Ophthalmol. 1984;97(5):627–31.PubMedGoogle Scholar
  22. 22.
    Goldhammer Y, Smith JL. Optic nerve anomalies in basal encephalocele. Arch Ophthalmol. 1975;93(2):115–8.PubMedGoogle Scholar
  23. 23.
    Kim RY, Hoyt WF, Lessell S, et al. Superior segmental optic hypoplasia. A sign of maternal diabetes. Arch Ophthalmol. 1989;107(9):1312–5.PubMedGoogle Scholar
  24. 24.
    Nelson M, Lessell S, Sadun AA. Optic nerve hypoplasia and maternal diabetes mellitus. Arch Neurol. 1986;43(1):20–5.PubMedGoogle Scholar
  25. 25.
    Petersen RA, Holmes LB. Optic nerve hypoplasia in infants of diabetic mothers. Arch Ophthalmol. 1986;104(11):1587.PubMedGoogle Scholar
  26. 26.
    Hoyt WF, Rios-Montenegro EN, Behrens MM, et al. Homonymous hemioptic hypoplasia. Fundoscopic features in standard and red-free illumination in three patients with congenital hemiplegia. Br J Ophthalmol. 1972;56(7):537–45.PubMedCentralPubMedGoogle Scholar
  27. 27.
    Apple DJ, Rabb MF, Walsh PM. Congenital anomalies of the optic disc. Surv Ophthalmol. 1982;27(1):3–41.PubMedGoogle Scholar
  28. 28.
    Dorrell D. The tilted disc. Br J Ophthalmol. 1978;62(1):16–20.PubMedCentralPubMedGoogle Scholar
  29. 29.
    Young SE, Walsh FB, Knox DL. The tilted disk syndrome. Am J Ophthalmol. 1976;82(1):16–23.PubMedGoogle Scholar
  30. 30.
    Larsen WJ. Development of the eyes. In: Larsen WJ, editor. Human embryology. 2nd ed. New York, NY: Churchill Livingstone; 1993. p. 120–39.Google Scholar
  31. 31.
    Giuffre G. Chorioretinal degenerative changes in the tilted disc syndrome. Int Ophthalmol. 1991;15(1):1–7.PubMedGoogle Scholar
  32. 32.
    Giuffré G. Hypothesis on the pathogenesis of the papillary dysversion syndrome. J Fr Ophthalmol. 1985;8(8–9):565–72.Google Scholar
  33. 33.
    Bottoni FG, Eggink CA, Cruysberg JR, et al. Dominant inherited tilted disc syndrome and lacquer cracks. Eye. 1990;4(pt 3):504–9.PubMedGoogle Scholar
  34. 34.
    Khairallah M, Chatti T, Messaoud R, et al. Peripapillary subretinal neovascularization associated with tilted disk syndrome. Retina. 1996;16(5):449–51.PubMedGoogle Scholar
  35. 35.
    Prost M, De Laey JJ. Choroidal neovascularization in tilted disc syndrome. Int Ophthalmol. 1988;12(2):131–5.PubMedGoogle Scholar
  36. 36.
    Stur M. Congenital tilted disk syndrome associated with parafoveal subretinal neovascularization. Am J Ophthalmol. 1988;105(1):98–9.PubMedGoogle Scholar
  37. 37.
    Manor RS. Temporal field defects due to nasal tilting of discs. Ophthalmologica. 1974;168(4):269–81.PubMedGoogle Scholar
  38. 38.
    Brazitikos PD, Safran AB, Simona F, et al. Threshold perimetry in tilted disc syndrome. Arch Ophthalmol. 1990;108(12):1698–700.PubMedGoogle Scholar
  39. 39.
    Giuffre G. The spectrum of the visual field defects in the tilted disc syndrome: clinical study and review. Neuro Ophthalmol. 1986;6:239–46.Google Scholar
  40. 40.
    Giuffre G, Anastasi M. Electrofunctional features of the tilted disc syndrome. Doc Ophthalmol. 1986;62(3):223–30.PubMedGoogle Scholar
  41. 41.
    De Rouck A, Kayembe D, De Laey JJ, et al. Clinical and electrophysiological manifestations of the tilted disk syndrome. Bull Soc Belge Ophthalmol. 1981;193:147–59.Google Scholar
  42. 42.
    Toussaint P, Turut P, Milazzo S, et al. Aspects of the tilted disk syndrome. Bull Soc Ophthalmol Fr. 1989;89(2):267–8. 271–272.Google Scholar
  43. 43.
    Hatten ME, Mason CA. Mechanisms of glial-guided neuronal migration in vitro and in vivo. Experientia (Basel). 1990;46(9):907–16.Google Scholar
  44. 44.
    Keane JR. Suprasellar tumors and incidental optic disc anomalies. Diagnostic problems in two patients with hemianopic temporal scotomas. Arch Ophthalmol. 1977;95(12):2180–3.PubMedGoogle Scholar
  45. 45.
    Pollock S. The morning glory disc anomaly: contractile movement, classification, and embryogenesis. Doc Ophthalmol. 1987;65(4):439–60.PubMedGoogle Scholar
  46. 46.
    Beyer WB, Quencer RM, Osher RH. Morning glory syndrome. A functional analysis including fluorescein angiography, ultrasonography, and computerized tomography. Ophthalmology. 1982;89(12):1362–7.PubMedGoogle Scholar
  47. 47.
    Haik BG, Greenstein SH, Smith ME, Abramson DH, Ellsworth RM. Retinal detachment in the morning glory anomaly. Ophthalmology. 1984;91(12):1638–47.PubMedGoogle Scholar
  48. 48.
    Steinkuller PG. The morning glory disk anomaly: case report and literature review. J Pediatr Ophthalmol Strabismus. 1980;17(2):81–7.PubMedGoogle Scholar
  49. 49.
    Graether JM. Transient amaurosis in one eye with simultaneous dilatation of retinal veins in association with a congenital anomaly. Arch Ophthalmol. 1963;70:342–5.PubMedGoogle Scholar
  50. 50.
    Caprioli J, Lesser RL. Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67(6):349–51.PubMedCentralPubMedGoogle Scholar
  51. 51.
    Hope-Ross M, Johnston SS. The Morning Glory syndrome associated with sphenoethmoidal encephalocele. Ophthalmic Paediatr Genet. 1990;11(2):147–53.PubMedGoogle Scholar
  52. 52.
    Koenig SB, Naidich TP, Lissner G. The morning glory syndrome associated with sphenoidal encephalocele. Ophthalmology. 1982;89(12):1368–73.PubMedGoogle Scholar
  53. 53.
    Eustis HS, Sanders MR, Zimmerman T. Morning glory syndrome in children. Association with endocrine and central nervous system anomalies. Arch Ophthalmol. 1994;112(2):204–7.PubMedGoogle Scholar
  54. 54.
    Yokota A, Matsukado Y, Fuwa I, et al. Anterior basal encephalocele of the neonatal and infantile period. Neurosurgery. 1986;19(3):468–78.PubMedGoogle Scholar
  55. 55.
    Hansen MR, Price RL, Rothner AD, et al. Developmental anomalies of the optic disc and carotid circulation: a new association. J Clin Neuro Ophthalmol. 1985;5:3–8.Google Scholar
  56. 56.
    Massaro M, Thorarensen O, Liu GT, et al. Morning glory disc anomaly and moyamoya vessels. Arch Ophthalmol. 1998;116(2):253–4.PubMedGoogle Scholar
  57. 57.
    Metry DW, Dowd CF, Barkovich AJ, et al. The many faces of PHACE syndrome. J Pediatr. 2001;139(1):117–23.PubMedGoogle Scholar
  58. 58.
    Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968;8(4):797–816.PubMedGoogle Scholar
  59. 59.
    Font RL, Zimmerman LE. Intrascleral smooth muscle in coloboma of the optic disk. Electron microscopic verification. Am J Ophthalmol. 1971;72(2):452–7.PubMedGoogle Scholar
  60. 60.
    Foster JA, Lam S. Contractile optic disc coloboma. Arch Ophthalmol. 1991;109(4):472–3.PubMedGoogle Scholar
  61. 61.
    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;88:139–46.PubMedGoogle Scholar
  62. 62.
    Lin CC, Tso MO, Vygantas CM. Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. Arch Ophthalmol. 1984;102(11):1651–4.PubMedGoogle Scholar
  63. 63.
    Schatz H. Central serous chorioretinopathy: the etiology of sequelae. Ophthalmology. 1988;95(7):1007–8.PubMedGoogle Scholar
  64. 64.
    Chestler RJ, France TD. Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology. 1988;95(12):1613–9.PubMedGoogle Scholar
  65. 65.
    Russell-Eggitt IM, Blake KD, Taylor DS, et al. The eye in the CHARGE association. Br J Ophthalmol. 1990;74(7):421–6.PubMedCentralPubMedGoogle Scholar
  66. 66.
    Pagon RA. Ocular coloboma. Surv Ophthalmol. 1981;25(4):223–36.PubMedGoogle Scholar
  67. 67.
    Carney SH, Brodsky MC, Good WV, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol. 1993;37(6):419–24.PubMedGoogle Scholar
  68. 68.
    Hoyt CS, Billson F, Ouvrier R, et al. Ocular features of Aicardi’s syndrome. Arch Ophthalmol. 1978;96(2):291–5.PubMedGoogle Scholar
  69. 69.
    Limaye SR. Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome). Eye Ear Nose Throat Mon. 1972;51(10):384–6.PubMedGoogle Scholar
  70. 70.
    Villalonga Gornes PA, Galan Terraza A, Gil-Gibernau JJ. Ophthalmoscopic evolution of papillary colobomatous malformations. J Pediatr Ophthalmol Strabismus. 1995;32(1):20–5.PubMedGoogle Scholar
  71. 71.
    Jacobs M, Taylor D. The systemic and genetic significance of congenital optic disc anomalies. Eye. 1991;5(pt 4):470–5.PubMedGoogle Scholar
  72. 72.
    Brown G, Tasman W. Congenital anomalies of the optic disc. New York, NY: Grune & Stratton; 1983.Google Scholar
  73. 73.
    Kranenburg EW. Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol. 1960;64:912–24.PubMedGoogle Scholar
  74. 74.
    Brown GC, Shields JA, Goldberg RE. Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology. 1980;87(1):51–65.PubMedGoogle Scholar
  75. 75.
    Sobol WM, Blodi CF, Folk JC, et al. Long-term visual outcome in patients with optic nerve pit and serous retinal detachment of the macula. Ophthalmology. 1990;97(11):1539–42.PubMedGoogle Scholar
  76. 76.
    Gass JD. Serous detachment of the macula. Secondary to congenital pit of the optic nerve head. Am J Ophthalmol. 1969;67(6):821–41.PubMedGoogle Scholar
  77. 77.
    Theodossiadis GP, Kollia AK, Theodossiadis PG. Cilioretinal arteries in conjunction with a pit of the optic disc. Ophthalmologica. 1992;204(3):115–21.PubMedGoogle Scholar
  78. 78.
    Parsa CF, Silva ED, Sundin OH, et al. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology. 2001;108(4):738–49.PubMedGoogle Scholar
  79. 79.
    Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further delineation of renal coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet. 1997;60(4):869–78.PubMedCentralPubMedGoogle Scholar
  80. 80.
    Parsa CF, Goldberg MF, Hunter DG. Papillorenal (“renal coloboma”) syndrome. Am J Ophthalmol. 2002;134(2):300–1.PubMedGoogle Scholar
  81. 81.
    Kiegler HR. Comparison of functional findings with results of standardized echography of the optic nerve in optic disk drusen. Wien Klin Wochenschr. 1995;107(21):651–3.PubMedGoogle Scholar
  82. 82.
    Giarelli L, Ravalico G, Saviano S, et al. Optic nerve head drusen: histopathological considerations-clinical features. Metab Pediatr Syst Ophthalmol. 1990;13(2–4):88–91.PubMedGoogle Scholar
  83. 83.
    Lorentzen SE. Drusen of the optic disk, an irregularly dominant hereditary affection. Acta Ophthalmol (Copenh). 1961;39:626–43.Google Scholar
  84. 84.
    Boldt HC, Byrne SF, DiBernardo C. Echographic evaluation of optic disc drusen. J Clin Neuro Ophthalmol. 1991;11(2):85–91.Google Scholar
  85. 85.
    Friedman AH, Gartner S, Modi SS. Drusen of the optic disc. A retrospective study in cadaver eyes. Br J Ophthalmol. 1975;59(8):413–21.PubMedCentralPubMedGoogle Scholar
  86. 86.
    Lansche RK, Rucker CW. Progression of defects in visual fields produced by hyaline bodies in optic disks. AMA Arch Ophthalmol. 1957;58(1):115–21.PubMedGoogle Scholar
  87. 87.
    Spencer WH. XXXIV Edward Jackson memorial lecture: drusen of the optic disc and aberrant axoplasmic transport. Ophthalmology. 1978;85(1):21–38.PubMedGoogle Scholar
  88. 88.
    Tso MO. Pathology and pathogenesis of drusen of the optic nerve head. Ophthalmology. 1981;88(10):1066–80.PubMedGoogle Scholar
  89. 89.
    Friedman AH, Henkind P, Gartner S. Drusen of the optic disc. A histopathological study. Trans Ophthalmol Soc U K. 1975;95(1):4–9.PubMedGoogle Scholar
  90. 90.
    Friedman AH, Beckerman B, Gold DH, et al. Drusen of the optic disc. Surv Ophthalmol. 1977;21(5):373–90.PubMedGoogle Scholar
  91. 91.
    Boyce SW, Platia EV, Green WR. Drusen of the optic nerve head. Ann Ophthalmol. 1978;10(6):695–704.PubMedGoogle Scholar
  92. 92.
    Seitz R. The intraocular drusen. Klin Monatsbl Augenheilkd. 1968;152(2):203–11.PubMedGoogle Scholar
  93. 93.
    Beck RW, Corbett JJ, Thompson HS, et al. Decreased visual acuity from optic disc drusen. Arch Ophthalmol. 1985;103(8):1155–9.PubMedGoogle Scholar
  94. 94.
    Sarkies NJ, Sanders MD. Optic disc drusen and episodic visual loss. Br J Ophthalmol. 1987;71(7):537–9.PubMedCentralPubMedGoogle Scholar
  95. 95.
    Knight CL, Hoyt WF. Monocular blindness from drusen of the optic disk. Am J Ophthalmol. 1972;73(6):890–2.PubMedGoogle Scholar
  96. 96.
    Vicary DL, Swann PG. Relative afferent pupil defect associated with optic disc drusen. Aust NZ J Ophthalmol. 1991;19(3):245–8.Google Scholar
  97. 97.
    Pietruschka G, Priess G. Clinical importance and prognosis of drusen of the disc. Klin Monatsbl Augenheilkd. 1973;162(3):331–41.PubMedGoogle Scholar
  98. 98.
    Hoover DL, Robb RM, Petersen RA. Optic disc drusen and primary megalencephaly in children. J Pediatr Ophthalmol Strabismus. 1989;26(2):81–5.PubMedGoogle Scholar
  99. 99.
    Savino PJ, Glaser JS, Rosenberg MA. A clinical analysis of pseudopapilledema. II. Visual field defects. Arch Ophthalmol. 1979;97(1):71–5.PubMedGoogle Scholar
  100. 100.
    Kanski JJ, Bowling B. Clinical ophthalmology: a systematic approach. 7th ed. Philadelphia, PA: Saunders; 2007.Google Scholar
  101. 101.
    Mustonen E. Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis II: visual fields. Acta Ophthalmol (Copenh). 1983;61(6):1057–66.Google Scholar
  102. 102.
    Lorentzen SE. Drusen of the optic disk. A clinical and genetic study. Acta Ophthalmol (Copenh). 1966;90(Suppl):1–180.Google Scholar
  103. 103.
    Erkkila H. Optic disc drusen in children. Acta Ophthalmol Suppl. 1977;129:3–44.PubMedGoogle Scholar
  104. 104.
    Okun E. Chronic papilledema simulating hyaline bodies of the optic disc. A case report. Am J Ophthalmol. 1962;53:922–7.PubMedGoogle Scholar
  105. 105.
    Sibony PA, Kennerdell JS, Slamovits TL, et al. Intrapapillary refractile bodies in optic nerve sheath meningioma. Arch Ophthalmol. 1985;103(3):383–5.PubMedGoogle Scholar
  106. 106.
    Kurz-Levin MM, Landau K. A comparison of imaging techniques for diagnosing drusen of the optic nerve head. Arch Ophthalmol. 1999;117(8):1045–9.PubMedGoogle Scholar
  107. 107.
    Roh S, Noecker RJ, Schuman JS, et al. Effect of optic nerve head drusen on nerve fiber layer thickness. Ophthalmology. 1998;105(5):878–85.PubMedCentralPubMedGoogle Scholar
  108. 108.
    Scholl GB, Song HS, Winkler DE, et al. The pattern visual evoked potential and pattern electroretinogram in drusen-associated optic neuropathy. Arch Ophthalmol. 1992;110(1):75–81.PubMedGoogle Scholar
  109. 109.
    Stevens RA, Newman NM. Abnormal visual evoked potentials from eyes with optic nerve head drusen. Am J Ophthalmol. 1981;92(6):857–62.PubMedGoogle Scholar
  110. 110.
    Vieregge P, Rosengart A, Mehdorn E, et al. Drusen papilla with vision disorder and pathologic visual evoked potentials. Nervenarzt. 1990;61(6):364–8.PubMedGoogle Scholar
  111. 111.
    Erkkila H. Clinical appearance of optic disc drusen in childhood. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1975;193(1):1–18.PubMedGoogle Scholar
  112. 112.
    Lorentzen SE. Incidence of cilioretinal arteries. Acta Ophthalmol (Copenh). 1970;48(3):518–24.Google Scholar
  113. 113.
    Erkkila H. The central vascular pattern of the eye ground in children with drusen of the optic disk. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1976;199(1):1–10.PubMedGoogle Scholar
  114. 114.
    Masyama Y, Kodama Y, Matsumara Y, et al. Clinical studies on the occurrence and the pathogenesis of optociliary veins. J Clin Neuro Ophthalmol. 1990;10:1–8.Google Scholar
  115. 115.
    Karel I, Otradovec J, Peleska M. Fluorescence angiography in circulatory disturbances in drusen of the optic disk. Ophthalmologica. 1972;164(6):449–62.PubMedGoogle Scholar
  116. 116.
    Frohlich SJ, Ulbig MW, Klauss V. Sudden loss of vision without previous symptoms. 58-year-old patient with sudden and painless loss of vision of the right eye. Ophthalmologe. 1999;96(2):120–1.PubMedGoogle Scholar
  117. 117.
    Jonas JB, Gusek GC, Guggenmoos-Holzmann I, et al. Optic nerve head drusen associated with abnormally small optic discs. Int Ophthalmol. 1987;11(2):79–82.PubMedGoogle Scholar
  118. 118.
    Brown GC, Magargal LE, Shields JA, et al. Retinal arterial obstruction in children and young adults. Ophthalmology. 1981;88(1):18–25.PubMedGoogle Scholar
  119. 119.
    Newman NJ, Lessell S, Brandt EM. Bilateral central retinal artery occlusions, disk drusen, and migraine. Am J Ophthalmol. 1989;107(3):236–40.PubMedGoogle Scholar
  120. 120.
    Newsom RS, Trew DR, Leonard TJ. Bilateral buried optic nerve drusen presenting with central retinal artery occlusion at high altitude. Eye. 1995;9(Pt 6):806–8.PubMedGoogle Scholar
  121. 121.
    Saudax E, Martin-Beuzart S, Lesure P, et al. Submacular neovascular membrane and drusen of the optic disk. J Fr Ophthalmol. 1990;13(4):219–22.Google Scholar
  122. 122.
    Harris MJ, Fine SL, Owens SL. Hemorrhagic complications of optic nerve drusen. Am J Ophthalmol. 1981;92(1):70–6.PubMedGoogle Scholar
  123. 123.
    Brodrick JD. Drusen of the disc and retinal haemorrhages. Br J Ophthalmol. 1973;57(5):299–306.PubMedCentralPubMedGoogle Scholar
  124. 124.
    van den Born LI, van Soest S, van Schooneveld MJ, et al. Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium. Am J Ophthalmol. 1994;118(4):430–9.PubMedGoogle Scholar
  125. 125.
    Grover S, Fishman GA, Brown Jr J. Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa. Ophthalmology. 1997;104(2):295–8.PubMedGoogle Scholar
  126. 126.
    Bouchet GC, Chabot J. Fluorographic diagnosis of papillary pseudo-edema related to the presence of hyalin verrucosity of the papilla. Bull Soc Ophthalmol Fr. 1970;70(11):1121–31.Google Scholar
  127. 127.
    Goodman RM, Smith EW, Paton D, et al. Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine (Baltim). 1963;42:297–334.Google Scholar
  128. 128.
    Pierro L, Brancato R, Minicucci M, et al. Echographic diagnosis of drusen of the optic nerve head in patients with angioid streaks. Ophthalmologica. 1994;208(5):239–42.PubMedGoogle Scholar
  129. 129.
    Samples JR, van Buskirk M, Shults WT, et al. Optic nerve head drusen and glaucoma. Arch Ophthalmol. 1985;103(11):1678–80.PubMedGoogle Scholar
  130. 130.
    Jiraskova N, Rozsival P. Results of 62 optic nerve sheath decompressions. Cesk Slov Oftalmol. 1999;55(3):136–44.PubMedGoogle Scholar
  131. 131.
    Francois J. Pre-papillary cyst developed from remnants of the hyaloid artery. Br J Ophthalmol. 1950;34(6):365–8.PubMedCentralPubMedGoogle Scholar
  132. 132.
    Gieser DK, Goldberg MF, Apple DJ, et al. Persistent hyperplastic primary vitreous in an adult: case report with fluorescein angiographic findings. J Pediatr Ophthalmol Strabismus. 1978;15(4):213–8.PubMedGoogle Scholar
  133. 133.
    Hamming NA, Apple DJ, Gieser DK, et al. Ultrastructure of the hyaloid vasculature in primates. Invest Ophthalmol Vis Sci. 1977;16(5):408–15.PubMedGoogle Scholar
  134. 134.
    Straatsma BR, Heckenlively JR, Foos RY, et al. Myelinated retinal nerve fibers associated with ipsilateral myopia, amblyopia, and strabismus. Am J Ophthalmol. 1979;88(3 pt 1):506–10.PubMedGoogle Scholar
  135. 135.
    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;103:1833–6.PubMedGoogle Scholar
  136. 136.
    Magoon EH, Robb RM. Development of myelin in human optic nerve and tract. A light and electron microscopic study. Arch Ophthalmol. 1981;99(4):655–9.PubMedGoogle Scholar
  137. 137.
    Kronish JW, Tse DT. Basal cell nevus syndrome. In: Gold DH, Weingeist TA, editors. The eye in systemic disease. Philadelphia, PA: Lippincott; 1990. p. 201–9.Google Scholar
  138. 138.
    Traboulsi EI, Lim JI, Pyeritz R, et al. A new syndrome of myelinated nerve fibers, vitreoretinopathy, and skeletal malformations. Arch Ophthalmol. 1993;111(11):1543–5.PubMedGoogle Scholar
  139. 139.
    Brodsky MC, Buckley EG, McConkie-Rosell A. The case of the gray optic disc! Surv Ophthalmol. 1989;33(5):367–72.PubMedGoogle Scholar
  140. 140.
    Taylor D. Optic nerve. In: Pediatric ophthalmology. Cambridge: Blackwell; 1990.Google Scholar
  141. 141.
    Halbertsma KTA. Pseudoatrophy of the optic nerve in infant 2 months old. Ned Tijdschr Geneeskd. 1937;81:1230–6.Google Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Neurology, Neuro-OphthalmologyUniversity of Nevada School of MedicineRenoUSA

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