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Optic Nerve Hypoplasia in Children: Association With Anomalies of the Endocrine and CNS

Optic Nerve Hypoplasia in Children: Association With Anomalies of the Endocrine and CNS Abstract • Optic nerve hypoplasia is frequently associated with congenital CNS anomalies and endocrine disturbances. In a prospective study of 93 children with this condition, we found that 78% of those with bilateral involvement, poor vision, and nystagmus (group 1) had additional nonocular developmental abnormalities. In contrast, among children with unilateral optic nerve hypoplasia (group 2) or with bilateral segmental hypoplasia and good vision (group 3), only 21% had nonocular developmental disturbances. Delayed development in 23 children was the most frequent nonvisual problem associated with optic nerve hypoplasia, and in five cases it occurred in the absence of detectable CNS, endocrine, or medical abnormalities. Nine patients had decreased levels of thyroid hormone; three, decreased levels of growth hormone; and three, decreased levels of both. Five had histories of neonatal hypoglycemia. Of the children with endocrine disturbances, ten had delayed development, but only seven had anomalies on computed tomographic scan. References 1. Whinery RD, Blodi FC: Hypoplasia of the optic nerve: A clinical and histopathological correlation . Trans Am Acad Ophthalmol Otolaryngol 1963;67:733-738. 2. Frisen L, Holmegaard L: Spectrum of optic nerve hypoplasia . Br J Ophthalmol 1978;62:7-15.Crossref 3. Scheie HG, Adler FH: Aplasia of the optic nerve . Arch Ophthalmol 1941;26:61-70.Crossref 4. Edwards WC, Layden WE: Optic nerve hypoplasia . Am J Ophthalmol 1970;70:950-959. 5. Walton DS, Robb RM: Optic nerve hypoplasia: A report of 20 cases . Arch Ophthalmol 1970;84:572-578.Crossref 6. Gardner HB, Irvine AR: Optic nerve hypoplasia with good visual acuity . Arch Ophthalmol 1972;88:255-258.Crossref 7. 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.Crossref 8. Bjork A, Laurell CG, Laurell U: Bilateral optic nerve hypoplasia with normal visual acuity . Am J Ophthalmol 1978;86:524-529. 9. Hotchkiss ML, Green WR: Optic nerve aplasia and hypoplasia . J Pediatr Ophthalmol Strabismus 1979;16:225-240. 10. Lloyd L, Buncic JR: Hypoplasia of the optic nerve and disc , in Smith JL (ed): Neuro-ophthalmology Focus . New York, Masson, 1980, pp 85-96. 11. Acers TE: Optic nerve hypoplasia, septooptic-pituitary dysplasia syndrome . Trans Am Ophthalmol Soc 1981;79:425-457. 12. Reeves DL: Congenital absence of the septum pellucidum . Bull Johns Hopkins Hosp 1941; 69:61-71. 13. De Morsier G: Agénésie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique . Schweiz Arch Neurol Neurochir Psychiatr 1956;77:267-292. 14. Karel I, Brachfeld K: Oboustranná hypoplazie a aplazie zrakového nervu . Cesk Oftalmol 1965;21:334-342. 15. Hoyt WF, Kaplan SL, Grumbach MM, et al: Septo-optic dysplasia and pituitary dwarfism . Lancet 1970;2:893-894.Crossref 16. Brook CG, Sanders MD, Hoare RD: Septooptic dysplasia . Br J Med 1972;3:811-813.Crossref 17. Harris RJ, Haas L: Septo-optic dysplasia with growth hormone deficiency (de Morsier syndrome) . Arch Dis Child 1972;47:973-976.Crossref 18. Billson F, Hopkins IJ: Optic nerve hypoplasia and hypopituitarism . Lancet 1972;1:905.Crossref 19. Patel H, Tze WJ, Crichton JM, et al: Optic nerve hypoplasia with hypopituitarism . Am J Dis Child 1975;2:175-180.Crossref 20. Krause-Brucker W, Gardner DW: Optic nerve hypoplasia with absent septum pellucidum and hypopituitarism . Am J Ophthalmol 1980; 89:113-120. 21. Greenfield PS, Wilcox LM Jr, Weiter JJ, et al: Hypoplasia of the optic nerve in association with porencephaly . J Pediatr Ophthalmol Strabismus 1980;17:75-78. 22. Ouvrier RA, Lewis D, Procopis PG, et al: Bilateral optic nerve hypoplasia . Clin Exp Neurol 1981;18:52-60. 23. Rogers GL, Brown D, Gray I, et al: Bilateral optic nerve hypoplasia associated with cerebral atrophy . J Pediatr Ophthalmol Strabismus 1981;18:18-22. 24. Goldhammer Y, Smith JL: Optic nerve anomalies in basal encephalocele . Arch Ophthalmol 1975;93:115-118.Crossref 25. Taylor D: Congenital tumors of the anterior visual system with dysplasia of the optic discs . Br J Ophthalmol 1982;66:455-463.Crossref 26. Garg BP: Colpocephaly: An error of morphogenesis? Arch Neurol 1982;39:243-247.Crossref 27. Boniuk V, Ho PK: Ocular findings in anencephaly . Am J Ophthalmol 1979;88:613-617. 28. Manor RS, Korczyn AD: Retinal red-free light photographs in two congenital conditions: A case of optic hypoplasia and a case of congenital hemiatrophy . Ophthalmologica 1976;173:119-127.Crossref 29. Young DE, Walsh FB, Knox DL: The tilted disk syndrome . Am J Ophthalmol 1976;82:16-23. 30. Dorrell D: The tilted disc . Br J Ophthalmol 1978;62:16-20.Crossref 31. Odom JV, Hoyt CS, Marg E: Effect of natural deprivation and unilateral eye patching on visual acuity of infants and children: Evoked potential measurements . Arch Ophthalmol 1981; 99:1412-1416.Crossref 32. Fulton AB, Manning KA, Dobson V: Infant vision testing by a behavioral method . Ophthalmology 1979;86:431-439.Crossref 33. Manelfe C, Rochiccioli P: CT of septo-optic dysplasia . Am J Radiol 1979;133:1157-1160. 34. O'Dwyer JA, Newton TH, Hoyt WF: Radiologic features of septooptic dysplasia: De Morsier syndrome . AJNR 1980;1:443-447. 35. Helveston EM: Unilateral hypoplasia of the optic nerve . Arch Ophthalmol 1966;76:195-196.Crossref 36. Smith HE: Aplasia of the optic nerve: Report of three cases . Am J Ophthalmol 1954; 37:498-504. 37. Small optic discs , editorial. Br J Ophthalmol 1978;62:1-2.Crossref 38. Bodis-Wollner I, Atkin A, Raab E: Visual association cortex and vision in man: Patternevoked potentials in a blind boy . Science 1977; 214:629-631.Crossref 39. Hoyt CS, Nickel BL, Billson FA: Ophthalmological examination of the infant: Developmental aspects . Surv Ophthalmol 1982;26:177-189.Crossref 40. Jerome B, Forster HW: Congenital hypoplasia of the optic nerve . Arch Ophthalmol 1948; 39:669-672.Crossref 41. Mosier MA, Lieberman MF, Green WR, et al: Hypoplasia of the optic nerve . Arch Ophthalmol 1978;96:1437-1442.Crossref 42. Ellenberger C, Runyan TE: Holoprosencephaly and hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum . Am J Ophthalmol 1970;70:960-967. 43. Seeley RL, Smith JL: Visual field defects in optic nerve hypoplasia . Am J Ophthalmol 1972; 73:882-889. 44. Weiter JJ, Mclean IW, Zimmerman LE: Aplasia of the optic nerve and disc . Am J Ophthalmol 1977;83:569-576. 45. Gross H, Hoff H: Sur les dysraphies craniocephaliques , in Heuyer G, Field M, Gruner J (eds): Les malformations congenitales du cerveau . Paris, Masson, 1959, pp 329-351. 46. Glucksman A: Cell death in normal vertebrate ontogeny . Biol Rev 1951;26:59-86.Crossref 47. Rager C, Rager U: Systems matching by degeneration: I. A quantitative electron microscopic study of the generation and degeneration of retinal ganglion cells in the chick . Exp Brain Res 1978;33:65-78.Crossref 48. Prestige MC: Differentiation, degeneration, and the role of the periphery: Quantitative considerations , in Schmitt FO (ed): The Neurosciences: Second Study Program . New York, Rockefeller University Press, 1970, pp 73-82. 49. Silver J, Robb R: Studies on the development of the eye cup and optic nerve in normal mice and in mutants with congenital optic nerve aplasia . Dev Biol 1979;68:175-190.Crossref 50. Silver J, Sidman RL: A mechanism for the guidance and topographic patterning of retinal ganglion cell axons . J Comp Neurol 1980;189:101-111.Crossref 51. Hughes WF, LaVelle A: The effects of early tectal lesions on development of the retinal ganglion cell layer of chick embryos . J Comp Neurol 1975;163:265-284.Crossref 52. Van Buren JM: Trans-synaptic retrograde degeneration in the visual system of primates . J Neurol Neurosurg Psychiatry 1963;26:402-405.Crossref 53. Weller RE, Kaas JH, Ward J: Preservation of retinal ganglion cells and normal patterns of retinogeniculate projections in prosimian primates with long-term ablations of striate cortex . Invest Ophthalmol Vis Sci 1981;20:139-148. 54. Hoyt WF, Rios-Montenegro EN, Behrens MM, et al: Homonymous hemioptic hypoplasia: Funduscopic features in standard and red-free illumination in three patients with congenital hemiplegia . Br J Ophthalmol 1972;56:537-545.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Optic Nerve Hypoplasia in Children: Association With Anomalies of the Endocrine and CNS

Archives of Ophthalmology , Volume 102 (1) – Jan 1, 1984

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American Medical Association
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Copyright © 1984 American Medical Association. All Rights Reserved.
ISSN
0003-9950
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1538-3687
DOI
10.1001/archopht.1984.01040030046032
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Abstract

Abstract • Optic nerve hypoplasia is frequently associated with congenital CNS anomalies and endocrine disturbances. In a prospective study of 93 children with this condition, we found that 78% of those with bilateral involvement, poor vision, and nystagmus (group 1) had additional nonocular developmental abnormalities. In contrast, among children with unilateral optic nerve hypoplasia (group 2) or with bilateral segmental hypoplasia and good vision (group 3), only 21% had nonocular developmental disturbances. Delayed development in 23 children was the most frequent nonvisual problem associated with optic nerve hypoplasia, and in five cases it occurred in the absence of detectable CNS, endocrine, or medical abnormalities. Nine patients had decreased levels of thyroid hormone; three, decreased levels of growth hormone; and three, decreased levels of both. Five had histories of neonatal hypoglycemia. Of the children with endocrine disturbances, ten had delayed development, but only seven had anomalies on computed tomographic scan. References 1. Whinery RD, Blodi FC: Hypoplasia of the optic nerve: A clinical and histopathological correlation . Trans Am Acad Ophthalmol Otolaryngol 1963;67:733-738. 2. Frisen L, Holmegaard L: Spectrum of optic nerve hypoplasia . Br J Ophthalmol 1978;62:7-15.Crossref 3. Scheie HG, Adler FH: Aplasia of the optic nerve . Arch Ophthalmol 1941;26:61-70.Crossref 4. Edwards WC, Layden WE: Optic nerve hypoplasia . Am J Ophthalmol 1970;70:950-959. 5. Walton DS, Robb RM: Optic nerve hypoplasia: A report of 20 cases . Arch Ophthalmol 1970;84:572-578.Crossref 6. Gardner HB, Irvine AR: Optic nerve hypoplasia with good visual acuity . Arch Ophthalmol 1972;88:255-258.Crossref 7. 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.Crossref 8. Bjork A, Laurell CG, Laurell U: Bilateral optic nerve hypoplasia with normal visual acuity . Am J Ophthalmol 1978;86:524-529. 9. Hotchkiss ML, Green WR: Optic nerve aplasia and hypoplasia . J Pediatr Ophthalmol Strabismus 1979;16:225-240. 10. Lloyd L, Buncic JR: Hypoplasia of the optic nerve and disc , in Smith JL (ed): Neuro-ophthalmology Focus . New York, Masson, 1980, pp 85-96. 11. Acers TE: Optic nerve hypoplasia, septooptic-pituitary dysplasia syndrome . Trans Am Ophthalmol Soc 1981;79:425-457. 12. Reeves DL: Congenital absence of the septum pellucidum . Bull Johns Hopkins Hosp 1941; 69:61-71. 13. De Morsier G: Agénésie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique . Schweiz Arch Neurol Neurochir Psychiatr 1956;77:267-292. 14. Karel I, Brachfeld K: Oboustranná hypoplazie a aplazie zrakového nervu . Cesk Oftalmol 1965;21:334-342. 15. Hoyt WF, Kaplan SL, Grumbach MM, et al: Septo-optic dysplasia and pituitary dwarfism . Lancet 1970;2:893-894.Crossref 16. Brook CG, Sanders MD, Hoare RD: Septooptic dysplasia . Br J Med 1972;3:811-813.Crossref 17. Harris RJ, Haas L: Septo-optic dysplasia with growth hormone deficiency (de Morsier syndrome) . Arch Dis Child 1972;47:973-976.Crossref 18. Billson F, Hopkins IJ: Optic nerve hypoplasia and hypopituitarism . Lancet 1972;1:905.Crossref 19. Patel H, Tze WJ, Crichton JM, et al: Optic nerve hypoplasia with hypopituitarism . Am J Dis Child 1975;2:175-180.Crossref 20. Krause-Brucker W, Gardner DW: Optic nerve hypoplasia with absent septum pellucidum and hypopituitarism . Am J Ophthalmol 1980; 89:113-120. 21. Greenfield PS, Wilcox LM Jr, Weiter JJ, et al: Hypoplasia of the optic nerve in association with porencephaly . J Pediatr Ophthalmol Strabismus 1980;17:75-78. 22. Ouvrier RA, Lewis D, Procopis PG, et al: Bilateral optic nerve hypoplasia . Clin Exp Neurol 1981;18:52-60. 23. Rogers GL, Brown D, Gray I, et al: Bilateral optic nerve hypoplasia associated with cerebral atrophy . J Pediatr Ophthalmol Strabismus 1981;18:18-22. 24. Goldhammer Y, Smith JL: Optic nerve anomalies in basal encephalocele . Arch Ophthalmol 1975;93:115-118.Crossref 25. Taylor D: Congenital tumors of the anterior visual system with dysplasia of the optic discs . Br J Ophthalmol 1982;66:455-463.Crossref 26. Garg BP: Colpocephaly: An error of morphogenesis? Arch Neurol 1982;39:243-247.Crossref 27. Boniuk V, Ho PK: Ocular findings in anencephaly . Am J Ophthalmol 1979;88:613-617. 28. Manor RS, Korczyn AD: Retinal red-free light photographs in two congenital conditions: A case of optic hypoplasia and a case of congenital hemiatrophy . Ophthalmologica 1976;173:119-127.Crossref 29. Young DE, Walsh FB, Knox DL: The tilted disk syndrome . Am J Ophthalmol 1976;82:16-23. 30. Dorrell D: The tilted disc . Br J Ophthalmol 1978;62:16-20.Crossref 31. Odom JV, Hoyt CS, Marg E: Effect of natural deprivation and unilateral eye patching on visual acuity of infants and children: Evoked potential measurements . Arch Ophthalmol 1981; 99:1412-1416.Crossref 32. Fulton AB, Manning KA, Dobson V: Infant vision testing by a behavioral method . Ophthalmology 1979;86:431-439.Crossref 33. Manelfe C, Rochiccioli P: CT of septo-optic dysplasia . Am J Radiol 1979;133:1157-1160. 34. O'Dwyer JA, Newton TH, Hoyt WF: Radiologic features of septooptic dysplasia: De Morsier syndrome . AJNR 1980;1:443-447. 35. Helveston EM: Unilateral hypoplasia of the optic nerve . Arch Ophthalmol 1966;76:195-196.Crossref 36. Smith HE: Aplasia of the optic nerve: Report of three cases . Am J Ophthalmol 1954; 37:498-504. 37. Small optic discs , editorial. Br J Ophthalmol 1978;62:1-2.Crossref 38. Bodis-Wollner I, Atkin A, Raab E: Visual association cortex and vision in man: Patternevoked potentials in a blind boy . Science 1977; 214:629-631.Crossref 39. Hoyt CS, Nickel BL, Billson FA: Ophthalmological examination of the infant: Developmental aspects . Surv Ophthalmol 1982;26:177-189.Crossref 40. Jerome B, Forster HW: Congenital hypoplasia of the optic nerve . Arch Ophthalmol 1948; 39:669-672.Crossref 41. Mosier MA, Lieberman MF, Green WR, et al: Hypoplasia of the optic nerve . Arch Ophthalmol 1978;96:1437-1442.Crossref 42. Ellenberger C, Runyan TE: Holoprosencephaly and hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum . Am J Ophthalmol 1970;70:960-967. 43. Seeley RL, Smith JL: Visual field defects in optic nerve hypoplasia . Am J Ophthalmol 1972; 73:882-889. 44. Weiter JJ, Mclean IW, Zimmerman LE: Aplasia of the optic nerve and disc . Am J Ophthalmol 1977;83:569-576. 45. Gross H, Hoff H: Sur les dysraphies craniocephaliques , in Heuyer G, Field M, Gruner J (eds): Les malformations congenitales du cerveau . Paris, Masson, 1959, pp 329-351. 46. Glucksman A: Cell death in normal vertebrate ontogeny . Biol Rev 1951;26:59-86.Crossref 47. Rager C, Rager U: Systems matching by degeneration: I. A quantitative electron microscopic study of the generation and degeneration of retinal ganglion cells in the chick . Exp Brain Res 1978;33:65-78.Crossref 48. Prestige MC: Differentiation, degeneration, and the role of the periphery: Quantitative considerations , in Schmitt FO (ed): The Neurosciences: Second Study Program . New York, Rockefeller University Press, 1970, pp 73-82. 49. Silver J, Robb R: Studies on the development of the eye cup and optic nerve in normal mice and in mutants with congenital optic nerve aplasia . Dev Biol 1979;68:175-190.Crossref 50. Silver J, Sidman RL: A mechanism for the guidance and topographic patterning of retinal ganglion cell axons . J Comp Neurol 1980;189:101-111.Crossref 51. Hughes WF, LaVelle A: The effects of early tectal lesions on development of the retinal ganglion cell layer of chick embryos . J Comp Neurol 1975;163:265-284.Crossref 52. Van Buren JM: Trans-synaptic retrograde degeneration in the visual system of primates . J Neurol Neurosurg Psychiatry 1963;26:402-405.Crossref 53. Weller RE, Kaas JH, Ward J: Preservation of retinal ganglion cells and normal patterns of retinogeniculate projections in prosimian primates with long-term ablations of striate cortex . Invest Ophthalmol Vis Sci 1981;20:139-148. 54. Hoyt WF, Rios-Montenegro EN, Behrens MM, et al: Homonymous hemioptic hypoplasia: Funduscopic features in standard and red-free illumination in three patients with congenital hemiplegia . Br J Ophthalmol 1972;56:537-545.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jan 1, 1984

References