Abstract
Optic atrophy is a morphologic sequelae to a multitude of anterior visual pathway insults that culminate in loss of retinal ganglion cell axons.153,185,200 Histopathologically, it is characterized by a variable reduction of nerve diameter with loss of axons and little or no gliosis. Ophthalmoscopically, the disc retains its normal size and shows diffuse or segmental pallor. The pallor in optic atrophy has been attributed to thinning of the neural tissue of the optic disc and resulting changes in cytoarchitecture and decreased transmission of light , rather than to loss of optic disc capillaries or astrocytic proliferation. 184,186 The ophthalmoscopic appearance of the atrophic disc alone only occasionally suggests a specific mechanism of injury.237
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References
Adams RD, Victor M. Principles of Neurology. 4th ed. New York, NY: Mc Graw Hill; 1989:804.
Alvord EC, Lofton S. Gliomas of optic nerve or chiasm. J Neurosurg 1988;68:85–98.
Amemiya T, Honda A. A family with optic atrophy and congenital hearing loss. Ophthalmic Genet 1994;15:87–93.
Angelini L, Nardocci V, Rumi C, et al. Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol 1992;239: 417–425.
Arts WF, Loonen MC, Sengers RC, et al. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 1993;33(5):535–539.
Aysun S, Topcu M, Gunay M, et al. Neurologic features as the initial presentations of childhood malignancies. Pediatr Neurol 1994;10:40–43.
Badea N. Crouzon’s disease. Oftalmologia 1991: 63–66.
Baker RH, Trautmann JC, Younge BR, et al. Late juvenile-onset Krabbe’s disease. Ophthalmology 1990;97:1176–11801.
Barkovich AJ. Pediatric Neuroimaging. New York, NY: Raven Press; 1990:35–75.
Beatty RM, Sadun AA, Smith L, et al. Direct demonstration of transsynaptic degeneration in the human visual system: a comparison of retrograde and anterograde changes. J Neurol Neurosurg Psychiatry 1982:45:143–146.
Behr C. Die Komplizieric hereditar-familiare optikusatrophie des kindesalters. Klin Mb Augenheilk 1909;47:318.
Benecke R, Berthold A, Conrad B. Denervation activity in the EMG of patients with upper motor neuron lesions: time course, local distribution and pathogenetic aspects. J Neurol 1983;230:143–151.
Berman JL, Kashii S, Trachtman MS, et al. Optic neuropathy and central nervous system disease secondary to Sjogren’s syndrome in a child. Ophthalmology 1990;1606–1609.
Berninger TA, Jaeger W, Krastel H. Electrophysiology and colour perimetry in dominant infantile optic atrophy. Br J Ophthalmol 1991;75:49–52.
Borgna-Pignatti C, Marradi P, Pinelli L, et al. Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 1989;114:405–410.
Borruat FX, et al. Late onset Leber’s optic neuropathy: a case confused with ischaemic optic neuropathy. Br J Ophthalmol 1992;76:571–575.
Borruat FX, Schatz NJ, Glaser JS, et al. Visual recovery from radiation-induced optic neuropathy. The role of hyperbaric oxygen therapy. J Clin Neuro-Ophthalmol 1993;13:98–101.
Bothe N, Lieb B, Schafer WD. Development of impaired vision in mentally handicapped children. Klin Monatsbl Augenheilkd 1991;198;509–514.
Brodsky MC. The “pseudo-CSF“ signal of orbital optic glioma on magnetic resonance imaging: a signature of neurofibromatosis. Surv Ophthalmol 1993;38(2):213–218
Brodsky MC, Glasier CM, Pollock SC, et al. Optic nerve hypoplasia identification by magnetic resonance imaging. Arch Ophthalmol 1990;108: 1562–1567.
Brodsky MC, Hout WF, Newton DR. The “phantom“ optic nerve: demonstration in CT and MR scans 19 years after resection of optic glioma. J Clin Neuro-Ophthalmol 1988;8:67–68.
Brodsky MC, Hoyt WF, Barnwell SL, et al. Intrachiasmatic craniopharyngioma: a rare cause of chiasmal thickening. Case report. J Neurosurg 1988;68(2):300–302.
Brown WF, Snow R. Denervation in hemiplegic muscles. Stroke 1990; 21:1700–1704.
Bu X, Rotter JI. Wolfram syndrome: a mitochondrial-mediated disorder? Lancet 1993;342: 598–600.
Buncic JR. Ocular aspects of Apert syndrome. Clin Plast Surg 1991;18:315–319.
Burke JP, O’Keefe M, Bowell R, et al. Ocular complications in homocystinuria-early and late treated. Br J Ophthalmol 1989;73(6):427–431.
Burke JP, O’Keefe M, Bowell R, et al. Ophthalmic findings in maple syrup urine disease. Metab Pediatr Syst Ophthalmol 1991;14:12–15.
Byrd DJ, Krohn HP, Winkler L, et al. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr 1989;148(6):543–547.
Calogero JA, Alexander E. Unilateral amaurosis in a hydrocephalic child with an obstructed shunt: case report. J Neurosurg 1971;34:236.
Campana G, Valentini G, Legnaioli MI, et al. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. Ophthal Paediatr Genet 1987;8:125–129.
Casteels I, Spileers W, Swinnen T, et al. Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome. Neuropediatrics 1994; 25:265-267.
Castro-Gago M, Rodriguez-Nunez A, Eiris J, et al. Familial agenesis of the corpus callosum: a new form. Arch Fr Pediatr.1993;50(4):327-330.
Chan T, Bowell R, 0’ Keefe M, et al. Ocular manifestations in fetal alcohol syndrome. Br J Ophthalmol 1991;75(9):524-526.
Chelluri L, Jastremski MS. Bilateral optic atrophy after cardiac arrest in a patient with acute respiratory failure on positive pressure ventilation. Resuscitation 1988;16:45-48.
Cherninkova S, Tzekov H, Karakostov V. Comparative ophthalmologic studies on children and adults with craniopharyngiomas. Ophthalmologica 1990;201(4):201-205.
Chitayat D, Silver K, Azouz EM. Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet 1992;43: 517-523.
Cillino S, Anastasi M, Lodato G. Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. Graefe’s Arch Clin Exp Ophthalmol 1989;227:131-135.
Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology. 1990;97:1445-1449.
Corbett JJ. Neuro-ophthalmologic complications of hydrocephalus and shunting procedures. Semin Neurol 1986;6:111-123.
Costeff H, Elpeleg 0, Apter N, et al. 3-Methylglutaconic aciduria in “optic atrophy plus.“ Ann Neurol 1993;33(1):103-104.
Costeff H, Gadoth N, Apter N, et al. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 1989;39: 595-597.
Costenbader FD, O’Rourk TR. Optic atrophy in childhood. J Pediatr Ophthalmol 1968;5:77. 43. Cullom ME, Hehler KL, Miller NR, et al. Leber’s hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993; 111:1482-1485.
Dailey RA. Optic nerve sheath meningiomas of childhood. Ophthalmol Clin North Am 1991;4(3): 519-529.
Davis PC, Hoffman JC Jr, Pearl GS, et al. CT evaluation of effects of cranial radiation therapy in children. Am J Neuro-Radiol 1986;7:639-644.
Diamond GA, D’Amico RA, Axelrod FB. Optic nerve dysfunction in familial dysautonomia. Am J Ophthalmol 1987;104:645-649.
Dineen J, Hendrickson A, Keating EG. Alterations of retinal inputs following striate cortex removal in adult monkey. Exp Brain Res 1982;47:446-456.
Dohi MT, Bardell AM, Stefano N, et al. Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature. Ophthal Paediatr Genet 1993;14: 5-7.
Drack AV, Traboulsi EI, Maumenee IH. Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration. Arch Ophthalmol 1992;110:712-713.
Dreyer M, Rudiger HW, Bujara K, et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). Klin Wochenschr 1982;60:471-475.
DuBois LG, Feldon SE. Evidence for a metabolic trigger for Leber’s hereditary optic neuropathy. A case report. J Clin Neuro-Ophthalmo11992;12: 1516.
Dutton JJ. Gliomas of the anterior visual pathway. Surv Ophthalmol 1994;38:427-452.
Dutton JJ, Burde RM. Anterior ischemic optic neuropathy of the young. J Clin Neuro-Ophthalmol 1983;3(2):137-146.
el-Azazi M, Malm G, Forsgren M. Late ophthalmologic manifestations of neonatal herpes simplex virus infection. Am J Ophthalmol 1990;109:1-7. 55. Elberg H, Kjer B, Kjer P, et al. Dominant optic atrophy (OPAI) mapped to chromosome 3q region. I: linkage analysis. Hum Molecular Genet 1994;3: 977-980.
Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993;115(3):360-367. 57. Elpeleg ON, Costeff H, Joseph A, et al. 3-Methylglutaconic aciduria in the Iraqi-Jewish “optic atrophy plus“ (Costeff) syndrome. Dev Med Child Neurol 1994;36:167-172.
Ersahin Y, Mutluer S, Guzelbag E. Intracranial hydatid cysts in children. Neurosurgery 1993;33: 219-224; (discussion): 224-225.
Eustis HS, Yaplee SM, Kogutt M, et al. Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. J Pediatr Ophthalmol Strabismus 1990;27:237-241.
Fernandez RG, Munoz-Negrete FJ, Garcia-Martin B, et al. Bilateral optic atrophy in Kenny’s syndrome. Acta Ophthalmol Copenh.1992;70:135-138. 61. Ferrer I, Campistol J, Tobena L, et al. Degenerescence systematisee optic o-cochleo-dentelee. J Neurol 1987;234(6):416-420.
Fletcher WA, Imes RK, Hoyt WF. Chiasmal gliomas: appearance and long-term changes demonstrated by computerized tomography. J Neurosurg 1986;65(2):154-159.
Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol 1991;35(5):353-368.
Francois J. Ocular manifestations in demyelinating disease. Adv Ophthalmol 1979;39:1-36.
Frisen L, Claesson M. Narrowing of the retinal arterioles in descending optic atrophy: a quantitative clinical study. Ophthalmology 1984;91:1342.
Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye 1991;5(pt 3): 279290.
Gay C, Divry P, Macabeo V, et al. N-acetylaspartic aciduria. Clinical, biological and physiopathological study. Arch Fr Pediatr 1991;48(6):409-413. 68. Gelber SJ, Heffez DS, Donohoue PA. Pituitary gigantism caused by growth hormone excess from infancy. J Pediatr 1992;120:931-934.
Ghose S. Optic nerve changes in hydrocephalus. Trans Ophthalmol Soc UK 1983;103(pt 2): 217220.
Goldberg MF, Custis PH. Retinal and other manifestations of incontinenti pigmenti (BlochSulzberger syndrome). Ophthalmology 1993;100: 1645-1654.
Good WV Hoyt CS, Lambert SR. Optic nerve atrophy in children with hypoxia. Invest Ophthalmol Vis Sci 1987;28(suppl):309.
Goodman SJ, Rosenbaum AL, Hasso A, et al. Large optic nerve glioma with normal vision. Arch Ophthalmol 1975;93:991-995.
Grant WM. Toxicology of the eye. 3rd ed. Springfield IL: Charles C. Thomas; 1986:1048-1049.
Grosse-Aldenhovel HB, Gallenkamp U, et al. Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome) neurological findings and prognostic implications. Neuropediatrics 1991;22:103-106.
Gupta S, Ghose S, Rohatgi M, et al. The optic nerve in children with craniosynostosis. A pre and post surgical evaluation. Doc Ophthalmol 1993; 83:271-278.
Gustavson KH, Anneren G, Malmgren H, et al. New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. Am J Med Genet 1993;45:654-658.
Guy J, Mancuso A, Beck R, et al. Radiationinduced optic neuropathy: a magnetic resonance imaging study. J Neurosurg 1991;74:426-432.
Hagemoser K, Weinstein J, Bresnick G, et al. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet 1989;33(1):61-65.
Haines SJ, Erickson DL, Wirtschafter JD. Optic nerve decompression for osteopetrosis in early childhood. Neurosurgery 1988;23:470-475.
Haltia M. Somer M. Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhyth mia and optic atrophy (the PEHO syndrome). Acta Neuropathol Berl.1993;85(3):241-247.
Hamed LM, Maria B, Quisling R, et al. Suprasellar lesions of maldevelopmental origin in Klinefelter’s syndrome. J Clin Neuro-Ophthalmol 1992;12(3): 192-197.
Hamed LM, Purvin V Rosenberg M. Recurrent anterior ischemic optic neuropathy in young adults. J Clin Neuro-Ophthalmol 1988;8:239-246.
Hamed LM. Retrograde transsynaptic degeneration of the retinogeniculate pathway after postnatal cerebral damage. Ophthalmology 1994;101(suppl): 134. Abstract.
Hammerstein W, Jurgens H, Gobel U. Retinal degeneration and embryonal rhabdomyosarcoma of the thorax. Fortschr Ophthalmo11991;88:463-465. 84. Hammond EJ, Wilder BJ. Evoked potentials in olivopontocerebellar atrophy. Arch Neurol 1983; 40:366-369.
Hansen E, Flage T, Rosenberg T, et al. Visual impairment in Nordic children. III: diagnoses. Acta Ophthalmol Copenh 1992;70:597-604.
Harding AE. The Hereditary Ataxias and Related Disorders. London: Churchill Livingstone;1984. 87. Hayasaka S, Yamaguchi K, Mizuno K, et al. Ocular findings in childhood lactic acidosis. Arch Ophthalmol 1986;104:1656-1658.
Heher KL, Johns DR. A maculopathy associated with the 15257 mitochondrial DNA mutation. Arch Ophthalmol 1993;111:1495-1498.
Howell N. Mitochondrial gene mutations and human disease: a prolegomenon. Am J Hum Genet 1994;55:219-224.
Howell N, Halvorson S, Burns J, et al. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet 1993;53: 959963. Letter.
Hoyt CS, Billson FA. Visual loss in osteopetrosis. Am J Dis Child 1979;133:955-958.
Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology 1980;87: 245.
Hoyt CS, Billson FA. Optic neuropathy in ketogenic diet. Br J Ophthalmol 1979;63(3):191-194. 94. Hoyt CS, Good WV Do we really understand the difference between optic nerve hypoplasia and atrophy? Eye 1992;6(pt 2):201-204.
Hoyt WF, Fletcher WA, Imes RK. Chiasmal gliomas. Appearance and long-term changes demonstrated by computerized tomography. Prog Exp Tumor Res 1987;30:113-121.
Hoyt WF, Imes RK. Optic gliomas of neurofibromatosis-1 (NF-1): contemporary perspectives. In: Ishibashi Y, Hori Y, eds. Tuberous Sclerosis and Neurofibromatosis: Epidemiology, Pathophysiology, Biology and Management. Amsterdam: Excerpta Medica;1990:239-246.
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.
Hoyt WE Ophthalmoscopy of the retinal nerve fibre layer in Neuro-ophthalmologic diagnosis. Aust J Ophthalmol 1976;4:14.
Huber A. Genetic diseases of vision. Curr Opin Neurol 1994;7:65-68.
Hull BM, Thompson DA. A review of the clinical applications of the pattern electroretinogram. Ophthalmic Physiol Opt 1989;9:143-152.
Huoponen K, Lamminen T, Juvonen V et al. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum Genet 1993;92:379-384.
Imes RK, Hoyt WF. Childhood chiasmal gliomas: update on the fate of patients in the 1969 study. Br J Ophthalmol 1986;70:179-182.
Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis l. Am J Ophthalmol 1991;111:729-734.
Jacobson DM. Pupillary responses to dilute pilocarpine in preganglionic 3rd nerve disorders. Neurology 1990;40:804-808.
Jacobson DM, Stone EM. Difficulty differentiating Leber’s from dominant optic neuropathy in a patient with remote visual loss. J Clin NeuroOphthalmol 1991;11:152-157.
Jakobiec FA, Depot MJ, Kennerdell JS, et al. Combined clinical and computed tomographic diagnosis of orbital glioma and meningioma. Ophthalmology 1984;91:137-155.
Jan JE, Robinson GC, Kinnis C, et al. Blindness due to optic nerve atrophy and hypoplasia in children: an epidemiology study (1944-1974). Dev Med Child Neurol 1977;19:353.
Jensen PKA, Reske-Nielsen E, Hein-Sorenson 0, et al. Syndrome of opticoacoustic nerve atrophy with dementia. Am J Med Genet 1987;28:517-518. 109. Johns DR, Heher KL, Miller NR, et al. Leber’s hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-498.
Johns DR, Smith KH, Miller NR, et al. Identical twins who are discordant for Leber’s hereditary optic neuropathy. Arch Ophthalmol 1993;111: 1491-1494.
Johns DR, Smith KH, Miller NR. Leber’s hereditary optic neuropathy. Arch Ophthalmol 1992; 110:1577-1581.
Johns DR, Neufeld MJ. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). Am J Hum Genet. 1993;53(4): 916-920.
Johns DR, Smith KH, Savino PJ, et al. Leber’s hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Ophthalmology 1993; 100(7):981-986.
Johnston PB, Gastor RN, Smith VC, et al. A clinico-pathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 1975;88:868-875.
Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR 1992;13:621-653.
Khodadoust AA, Ziai M, Biggs SL. Optic disc in normal newborns. Am J Ophthalmol 1968;66: 502504.
Kim I, Ohnishi A, Kuroiwa Y Three cases of Charcot-Marie-Tooth disease with neural deafness: the classification and sural nerve pathology. Rinsho Shinkeigaku 1980; 20:264-270.
King KM, Cronin C. Ocular findings in premature infants with grade IV intraventricular hemorrhage. J Pediatr Ophthalmol Strabismus 1993;30:84-87.
Kinsley BT, Firth RG. The Wolfram syndrome: a primary neurodegenerative disorder with lethal potential. Ir Med J 1992;85:34-36.
Kjer P, Jensen OA, Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol Copenh 1983; 61(2):300-312.
Kline LB, Glaser JS. Dominant optic atrophy: the clinical profile. Arch Ophthalmol 1979;97: 16801686.
Krageloh-Mann I, Grodd W, Niemann G, et al. Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy. Pediatr Neurol 1992;8:60-64.
Lambert SL, Hoyt C. Brain problems. In: Taylor D, ed. Pediatric Ophthalmology. Boston, MA: Blackwell Scientific Publications; 1990:507.
Lambert SR, Hoyt CS, Jan JE, et al. Visual recovery from hypoxic cortical blindness during childhood. Computed tomographic and magnetic reso nance imaging predictors. Arch Ophthalmol 1987;105:1371-1377.
Lapresle J. Palatal myoclonus. Adv Neurol 1986; 43:265-273.
Leeuwen MA, van Bogaert L. Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-Luysian degeneration. Brain 1949;72:340.
Leinonen MT, Elenius V. Perimetric testing of tritan deficiency. Ophthalmologica 1992;204: 204209.
Lessell S, Rosman NP. Juvenile diabetes mellitis and optic atrophy. Arch Neurol 1977;34:759.
Leuzzi V Bertini E, De-Negri AM, et al. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry. 1992; 55(1):16-19.
Levin ML, O’Conner PS, Aguirre G, et al. Angiographically normal central retinal artery following the total resection of an optic nerve glioma. J Clin Neuro-Ophthalmol 1986;6:1-8.
Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis. II. incidence of optic gliomata. Ophthalmology 1984;91:929-935.
Listernick R, Charrow J, Greenwald MJ, et al. Optic gliomas in children with neurofibromatosis type 1. J Pediatr 1989;114:788-792.
Liu GT, Lessell S. Spontaneous visual improvement in chiasmal gliomas. Am J Ophthalmol 1992;114:193-201.
Livingstone IR, Mastaglia FL, Edis R, Howe JW. Visual involvement in Friedreich ataxia and hereditary spastic ataxias: a clinical and visual response study. Arch Neurol 1981;38:75-79.
Macdermot KD, Walker RWH. Autosomal recessive hereitary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. J Neurol Neurosurg Psychiatr 1987;50: 1342-1347.
Madreperia SA. Olivopontocerebellar atrophy with retinal degeneration. Fundus characteristics and diagnostic MRI findings. Ophthalmol Ped Genet 1993;14:61-68.
Mahapatra AK. Optic nerve injury in children. A prospective study of 35 patients. J Neurol Sci 1992;36:79-84.
Mantyjarvi MI, Nerdrum K, Tuppurainen K. Color vision in dominant optic atrophy. J Clin NeuroOphthalmol 1992;12:98-103.
Margo C, Hamed LM, McCarty J. Congenital optic tract syndrome. Arch Ophthalmol 1991;109: 11201122.
Maruyama K, Arisaka 0, Lee T, et al. Optic atrophy in aqueduct stenosis. Eur J Pediatr 1989; 148(7):682. Letter.
Marzan KA, Barron TF. MRI abnormalities in Behr syndrome. Pediatr Neurol 1994;10:247-248. 142. Matson DD, Crigler JF Jr. Management of craniopharyngioma in childhood. J Neurosurg 1969; 30(4):377-390.
McComas AJ. Invited review: motor unit estimation: methods, results, and present status. Muscle Nerve 1991;14:585-597.
McGinnity FG, Bryars JH. Controlled study of ocular morbidity in school children born preterm. Br J Ophthalmol 1992;76:520-524.
McKluskey DJ, 0’ Connor PS, Sheehy JT. Leber’s optic neuropathy and Charcot-Marie-Tooth disease. J Clin Neuro-Ophthalmol 1986;6:76-81.
Mefty 0, Fox JL, Al-Rodhan N, et al. Optic nerve decompression in osteopetrosis. J Neurosurg 1988; 68:80-84.
Meire F, De Laey JJ, de Bie S, et al. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic Paediatr Genet. 1985;5(1-2): 91-97.
Menon V Arya AV, Sharma P, et al. An aetiological profile of optic atrophy. Acta Ophthalmol Copenh 1992;70:725-729.
Mets MB, Mhoon E. Probable autosomal dominant optic atrophy with hearing loss. Ophthalmic Paediatr Genet 1985;5(1-2):85-89.
Mikelberg FS, Yidegiligne HM. Axonal loss in band atrophy of the optic nerve in craniopharyngioma: a quantitative analysis. Can J Ophthalmol 1993;28:69-71.
Miller NR, Newman SA. Transsynaptic degeneration. Arch Ophthalmol 1981;99:165. Letter.
Miller NR, Solomon S. Retinochoroidal (optociliary) shunt veins, blindness, and optic atrophy: a non-specific sign of chronic optic nerve compression. Aust N Z J Ophthalmol 1991;19:105-109.
Miller NR. Optic atrophy. In: Walsh FB, Hoyt WE Clinical Neuro-Ophthalmology. 4th ed. Baltimore, MD: Williams & Wilkins;1982:329-342.
Miyake Y, Yagasaki K, Ichikawa H. Differential diagnosis of congenital tritanopia and dominantly inherited optic atrophy. Arch Ophthalmol 1985;103: 1496-1501.
Moller HU. Recessively inherited, simple optic atrophy-does it exist? Ophthalmic Paediatr Genet 1992;13:31-32. Letter.
Moore AT, Buncic JR, Munro IR. Fibrous dysplasia of the orbit in childhood. Clinical features and management. Ophthalmology 1985;92:12-20.
Mukai K, Seljeskog EL, Dehner LP Pituitary adenomas in patients under 20 years old. A clinicopathological study of 12 cases. J Neuro-Oncol 1986;4:79-89.
Munnich A, Rustin P, Rotig D, et al. Clinical aspects of mitochondrial disorders. J Inherited Metab Dis 1992;15:448-455.
Nakamura M, Tanigawa M, Yamamoto M. A case of Leber’s hereditary optic neuropathy with a mitochondrial DNA mutation at nucleotide position 3460. Jpn J Ophthalmol 1994;38:267-271.
Neetens A, Leroy J, Smets RM. Menkes’ kinky hair disease. Bull Soc Belge Ophtal 1982;203:7583.
Neetens A, Martin JJ. The hereditary optic atrophies. Neuroophthalmology 1986;6:277.
Neetens A, Rubbens MC. Dominant juvenile optic atrophy. Ophthalmic Paediatr Genet 1985;5:79-83. 163. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th ed. New York, NY: McGraw-Hill; 1989;11: 1565-1587.
Newman NJ. Leber’s hereditary optic neuropathy. New genetic considerations. Arch Neurol 1993; 50:540-548.
Newman NJ. Leber’s hereditary optic neuropathy. Ophthalmol Clin North Am 1991;4:431-447.
Newman NJ. Optic disc pallor: a false localizing sign. Surv Ophthalmol 1993;37:237-282.
Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;111(6):750-762.
Newman SA. Ophthalmic features of craniosynostosis. Neurosurg Clin North Am 1991;2:587-610. 169. Newman SA, Miller NR. Optic tract syndrome. Neuro-ophthalmologic considerations. Arch Ophthalmol 1983;101:1241-1250.
Ohtsuka Y, Amano R, Oka E, et al. Myoclonus epilepsy with ragged-red fibers: a clinical and electrophysiologic follow-up study on two sibling cases. J Child Neurol 1993;8(4):366-372.
Okuno T, Prensky AL, Gado M. The Moyamoya syndrome associated with irradiation of optic glioma in children: report of two cases and review of the literature. Pediatr Neurol 1985;1:311-316. 172.Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, et al. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990;40(9):1369-1375.
Ouvrier RA. Pallor of the optic disc in children. Aust N Z J Ophthalmol 1990;18:375-379. 174.Ozkan H, Unsal E, Kose G. Oculocerebral hypopigmentation syndrome (Cross syndrome). Turk J Pediatr 1991;33(4):247-252.
Parravano JG, Toledo A, Kucharczyk W. Dimensions of the optic nerves, chiasm, and tracts: MR quantitative comparison between patients with op tic atrophy and normals. J Comput Assist Tomogr 1993;17:688-690.
Paulus W, Straube A, Bauer W, et al. Central nervous system involvement in Leber’s optic neuropathy. J Neurol 1993;240:251-253.
Pearce WG. Variable severity in autosomal dominant optic atrophy. Ophthalmic Paediatr Genet 1985;5(1-2):99-102.
Peterson JR, Rosenberg T, Ibssen KK. Optic atrophy with particular attention to perinatal damage. Ugeskr Laeger 1990;152:3865-3867.
Phillips CI, Mackintosh GI, Howe JW, et al. Autosomal recessive “optic atrophy“ with late onset and evidence of ganglion cell dysfunction: a sibship of two females. Ophthalmologica 1993;206:89-93.
Pilley SF, Thompson HS. Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) in children. Br J Ophthalmol 1976;60:294-298.
Pollock SC, Miller NR. The retinal nerve fiber layer. Int Ophthalmol Clin 1986;26:201-221.
Posnick JC, Wells MD, Drake JM, et al. Childhood fibrous dysplasia presenting as blindness: a skull base approach for resection and immediate reconstruction. Pediatr Neurosurg 1993;19:260-266.
Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet 1992;43(1-2):458-466.
Quigley HA, Anderson DR. The histologic basis of optic disk pallor in experimental optic atrophy. Am J Ophthalmol 1977;83(5):709-717.
Quigley HA, Davis EB, Anderson DR. Descending optic nerve degeneration in primates. Invest Ophthalmol Vis Sci 1977;16:841-849.
Quigley HA, Hohman RM, Addicks EM. Quantitative study of optic nerve head capillaries in experimental optic disc pallor. Am J Ophthalmol 1982;93(6):689-699.
Ramaekers VT, Brab M, Rau G, et al. Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. Neuropediatrics 1993;24:98-102.
Rando TA, Horton JC, Layzer RB. Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. Neurology 1992;42:1220-1224.
Repka MX, Miller NR, Miller M. Visual outcome after surgical removal of craniopharyngiomas. Ophthalmology 1989;96:195-199.
Repka MX, Miller NR. Optic atrophy in children. Am J Ophthalmol 1988;106:191-193.
Richmond IL, Wilson CB. Pituitary adenomas in childhood and adolescence. J Neurosurg 1978;49: 163-168.
Rizzo JF, Lessell S, Liebman S. Optic atrophy in familial dysautonomia. Am J Ophthalmol 1986; 102:463-467.
Roggeveen HC, de Winter AP, Went LN. Studies in dominant optic atrophy. Ophthalmic Paediatr Genet. 1985;5:103-109.
Ron E, Modam B, Boice JD, et al. Tumors of the brain and nervous system after radiotherapy in childhood. N Engl J Med 1988;319:1033.
Rosenberg RN, Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 1967;17:827-832.
Rosenberg RN, Grossman A. Hereditary ataxia. Neurol Clin.1989;7(1):25-36.
Rotig A, Cormier V Chatelain P, et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wol fram syndrome, MIM 222300). J Clin Invest 1993;91(3):1095-1098.
Saatci U, Soylemezoglu 0, Ozen S, et al. Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome). Turk J Pediatr 1990;32:211-215.
Sachdev MS, Kumar H, Jain AK, et al. Transsynaptic neuronal degeneration of optic nerves associated with bilateral occipital lesions. Ind J Ophthalmol 1990;38:151-152.
Sadun AA, Martone JF, Muci-Mendoza R, et al. Epidemic optic neuropathy in Cuba. Eye findings. Arch Ophthalmol 1994;112:691-699.
Safran AB, Lupolover Y, Berney J. Macular reflexes in optic atrophy. Am J Ophthalmol 1984; 98:494.
Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica 1993;206(4):177-181.
Salih MA, Tuvemo T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. Acta Paediatr Scand 1991;80:567-572.
Salonen R, Somer M, Haltia M, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 1991; 39:287-293.
Savoiardo M, Strada L, Girotti F, et al. Olivocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 1994;174: 693696.
Sayli BS, Gul D. GAPO syndrome in three relatives in a Turkish kindred. Am J Med Genet 1993;47:342-345.
Schor NF. Nervous system dysfunction in children with paraneoplastic syndromes. J Child Neurol 1992;7:253-258.
Seiff SR, Brodsky MC, McDonald G, et al. Orbital optic glioma in neurofibromatosis: magnetic resonance diagnosis of perineural arachnoidal gliomatosis. Arch Ophthalmol 1987;105: 16891692.
Seiff SR. Trauma and the optic nerve. Ophthalmol Clin North Am 1992;5:389-394.
Senanayake N. A syndrome of early onset spinocerebellar ataxia with optic atrophy, internuclear ophthalmoplegia, dementia, and startle my oclonus in a Sri Lankan family. J Neurol 1992; 239(5):293-294. Letter.
Sener RN, Ustun EE, Ozkinay C, et al. Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family. Pediatr Radiol 1993;23(4):321-324.
Shedden AM, Smith JC, O’Conner PS, et al. The “phantom“ optic nerve. J Clin Neuro-Ophthalmol 1985;5:209-212.
Sheffer RN, Zlotogora J, Elpeleg ON, et al. Behr’s syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol 1992;114:494-497.
Shurin SB, Rekate HL, Annable W. Optic atrophy induced by vincristine. Pediatrics 1982;70: 288291.
Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcifications. N Engl J Med 1985;313:139-145.
Small KW, Pollock S, Scheinman J. Optic atrophy in primary oxalosis. Am J Ophthalmol 1988; 106:96-97.
Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 1973;90:349-354.
Smith KH, Johns DR, Heher KL, et al. Heteroplasmy in Leber’s hereditary optic neuropathy. Arch Ophthalmol 1993;111:1486-1490.
Somer M, Sainio K. Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). Epilepsia 1993;34(4):727-731. 220. Somer M, Salonen 0, Pihko H, et al. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR 1993;14:861-867.
Spalton DJ, Taylor DSI, Sanders MD. Juvenile Batten’s disease; and ophthalmological assessment of 26 patients. Br J Ophthalmol 1980;64:726-732. 222. Sperli D, Concolino D, Barbato C, et al. Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet 1993;30(10):877-879.
Stern J, Jakobiec FA, Housepian EM. The architecture of optic nerve gliomas with and without neurofibromatosis. Arch Ophthalmol 1980;98; 505511.
Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber’s hereditary optic neuropathy and the 11778 mutation. J Clin NeuroOphthalmol 1992;12:10-14.
Stromland K. Eyeground malformations in the fetal alcohol syndrome. Birth Defects 1982;18(6): 651-655.
Sullivan TJ, Heathcote JG, Brazel SM, et al. The ocular pathology in Leber’s congenital amaurosis. Aust N Z J Ophthalmol 1994;22:25-31.
Sullivan TJ, Lambert SR, Buncic JR, et al. The optic discs in Leber congenital amaurosis. J Pediatr Ophthalmol Strabismus 1992;29:246-249.
Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol 1991; 48(12):1285-1293.
Sylvestor PE. Some unusual findings in a family with Friedreich ataxia. Arch Dis Child 1958; 33:217-221.
Szedelyova L, Vaisova Z. Dominant infantile optic nerve atrophy. Cesk Oftalmol 1989;45(6):440-444. 231. Taylor D. Ophthalmological features of some human hereditary disorders with demyelination. Bull Soc Belge Ophtal 1983;208-209:405-413.
Taylor DR. Congenital tumors of the anterior visual system with dysplasia of the optic discs. Br J Ophthalmol 1982;66:455.
Till JS, Roach ES, Burton BK. Sialidosis (neuraminidase deficiency) types I and II: neuroophthalmic manifestations. J Clin Neuro-Ophthalmol 1987;7(1):40-44.
Traboulsi EI, DeBecker 1, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992;114:579-583.
Traboulsi EI, Silva JC, Geraghty MT, et al. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. Am J Ophthalmol 1992; 113(3):269-280.
Treft RL, Sanborn GE, Carey J, et al. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Ophthalmology 1984;91:908-915.
Trobe JD, Glaser JSS, Cassady JC. Optic atrophy: differential diagnosis by fundus observation alone. Arch Ophthalmol 1980;98:1040-1045.
Tuppurainen K, Herrgard E, Martikainen A, et al. Ocular findings in prematurely born children at 5 years of age. Graefe’s Arch Clin Exp Ophthalmol 1993;231:261-266.
Tzekov C, Cherninkova S, Gudeva T. Neuroophthalmological symptoms in children treated for internal hydrocephalus. Pediatr Neurosurg 19911992;17(6):317-320.
Unsold R, Hoyt WF. Band atrophy of the optic nerve. The histology of temporal hemianopsia. Arch Ophthalmol1980;98(Sept): 1637–1638.
Van-den-Berge JH, Blaauw G, Breeman WA, et al. Intracavitary brachytherapy of cystic craniopharyngiomas. J Neurosurg 1992;77(4):545–550.
Van-den-Bergh L, Zeyen T, Verhelst J, et al. Wolfram syndrome: a clinical study of two cases. Doc Ophthalmol 1993;84(2):119–126.
Vikki J, Ott J, Savontaus ML, Aula P, et al. Optic atrophy in Leber’s hereditary optic neuropathy is probably determined by an X-chromosome gene closely linked to DXST. Am J Hum Genet 1991; 48:486–491.
Volpe JJ. Neurology of the newborn. Philadelphia, PA: WB Saunders;1987.
Volpe NJ, Lessell S. Leber’s hereditary optic neuropathy. Int Ophthalmol Clin 1993;33:153–168.
Wajntal A, Koiffmann CP, Mendonca BB, et al. GAPO syndrome-a connective tissue disorder: report of two affected sibs and on the pathologic findings in the older. Am J Med Genet 1990; 37:213–223.
Weiner HL, Wisoff JH, Rosenberg ME: Craniopharyngiomas: a clinicopathological analysis of factors predictive of recurrence and functional outcome. Neurosurgery 1994;6:1001–1011.
Weisman JS, Hepler RS, Vinters HV Reversible visual loss caused by fibrous dysplasia. Am J Ophthalmol 1990;110:244–249.
Weleber RG, Eisner A. Cone degeneration (“bull’s eye dystrophies“) and color vision defects. In: Newsome DA, ed. Retinal Dystrophies and Degen erations. New York, NY: Raven Press; 1988: 233–256.
Weleber RG, Miyake Y Familial optic atrophy with negative electroretinograms. Arch Ophthalmol 1992;110:640–645.
Weyand RD, Criag WM, Rucker CW. Unusual lesions involving the optic chiasm. Proc Staff Meet Mayo Clin 1952;27:505–511.
Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings. Report of 4 cases. Mayo Clin Proc 1938;13:715–718.
Wright JE, McNab AA, McDonald WI. Optic nerve glioma and the management of optic nerve tumors in the young. Br J Ophthalmol 1989;73: 967–974.
Wright JE, McNab AA, McDonald WI. Primary optic nerve sheath meningioma. Br J Ophthalmol 1989;73:960–966.
Yoshioka M, Kuroki S, Kondo T. Ocular manifestations in Fukuyama type congenital muscular dystrophy. Brain Dev 1990;12(4):423–426.
Zimmerman CF, Schatz NJ, Glaser JS. Magnetic resonance imaging of optic nerve meningiomas. Ophthalmology 1990;97:585–591.
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Brodsky, M.C., Baker, R.S., Hamed, L.M. (1996). Optic Atrophy in Children. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-8457-1_4
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