Systemic Abnormalities in Children with Congenital Optic Disc Excavations

References

• Fitzpatrick DR, van Heyningen V. Developmental eye disorders. Curr Opin Genet Dev 2005;15:348–353
   PubMed Web of Science ®Google Scholar
• Dutton GN. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye 2004;18:1038–1048
   PubMed Web of Science ®Google Scholar
• Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Ocular colobomata. Surv Ophthalmol 2000;45:175–194
   PubMed Web of Science ®Google Scholar
• Radhawa S, Shah VA, Kardon RH. Megalopapilla, not glaucoma. Arch Ophthalmol 2007;125:1134–1135
   Google Scholar
• Brodsky MC. Congenital optic disc anomalies. In: Pediatric neuro-ophthalmology. New York: Springer; 2010. pp 59–96
   Google Scholar
• Goldhammer Y, Smith JL. Optic nerve anomalies in basal encephalocele. Arch Ophthalmol 1975;93:115–118
   PubMedGoogle Scholar
• Barakat MR, Traboulsi EI, Sears JE. Coats' disease, megalopapilla and Cornelia de Lange syndrome. Ophthalmic Genet 2009;30:106–108
   Web of Science ®Google Scholar
• Lee BJ, Traboulsi EI. Update on the morning glory disc anomaly. Ophthalmic Genet 2008;29:47–52
   Web of Science ®Google Scholar
• Caprioli J, Lesser RL. Basal encephalocele and morning glory syndrome. Br J Ophthalmol 1983;67:349–351
   PubMed Web of Science ®Google Scholar
• Eustis HS, Sanders MR, Zimmerman T. Morning glory syndrome in children. Association with endocrine and central nervous system anomalies. Arch Ophthalmol 1994;112:204–207
   PubMedGoogle Scholar
• Leitch RJ, Winter RM. Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. Acta Ophthalmol Scand Suppl 1996;219:16–19
   Google Scholar
• Savell J, Cook JR. Optic nerve colobomas of autosomal-dominant heredity. Arch Ophthalmol 1976;94:395–400
   PubMedGoogle Scholar
• Yamashita T, Kawano K, Ohba N. Autosomal dominantly inherited optic nerve coloboma. Ophthalmic Paediatr Genet 1988;9:17–24
   PubMed Web of Science ®Google Scholar
• Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, et al. Ophthalmic features of CHARGE syndrome with CHD7 mutations. Am J Med Genet A 2012;158A:514–518
   Google Scholar
• Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, et al. Renal coloboma syndrome. Ophthalmology 2001;108:1912–1916
   PubMed Web of Science ®Google Scholar
• Aicardi J. Aicardi syndrome. Brain Dev 2005;27:164–171
   PubMed Web of Science ®Google Scholar
• Diven DG, Solomon AR, McNeely MC, Font RL. Nevus sebaceus associated with major ophthalmologic abnormalities. Arch Dermatol 1987;123:383–386
   Google Scholar
• van de Warrenburg BP, van Gulik S, Renier WO, Lammens M, Doelman JC. The linear naevus sebaceus syndrome. Clin Neurol Neurosurg 1998;100:126–132
   Google Scholar
• Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992;6:328–334
   PubMedGoogle Scholar
• Grimson BS, Perry DD. Enlargement of the optic disk in childhood optic nerve tumors. Am J Ophthalmol 1984;97:627–631
   PubMed Web of Science ®Google Scholar
• Rao AA, Naheedy JH, Chen JY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013;2013:975908
   Google Scholar
• Kabat AG. Intracranial hypertension. Optom Clin 1996;5:153–179
   Google Scholar
• Acheson JF. Idiopathic intracranial hypertension and visual function. Br Med Bull 2006;79:233–244
   Google Scholar
• Deng W, Pleasure J, Pleasure D. Progress in periventricular leukomalacia. Arch Neurol 2008;65:1291–1295
   PubMed Web of Science ®Google Scholar
• Grandis ED, Mancardi MM, Carelli V, Carpaneto M, Morana G, Prato G, et al. Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia. J Child Neurol 2013 Nov 28
   Google Scholar
• Rezaie P, Dean A. Periventricular leukomalacia, inflammation and white matter lesions within the developing nervous system. Neuropathology 2002;22:106–132
   PubMed Web of Science ®Google Scholar
• 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
• Jacobson L, Hellström A, Flodmark O. Large cups in normal-sized optic discs: a variant of optic nerve hypoplasia in children with periventricular leukomalacia. Arch Ophthalmol 1997;115:1263–1269
   PubMedGoogle Scholar
• Brodsky MC. Periventricular leukomalacia: an intracranial cause of pseudoglaucomatous cupping. Arch Ophthalmol 2001;119:626–627
   Google Scholar
• Tucker S, Jones B, Collin JRO. Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye 1996;10:310–314
   PubMed Web of Science ®Google Scholar
• Morrison D, Fitzpatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002;39:16–22
   PubMed Web of Science ®Google Scholar
• Bert AT, Yaman A, Saatçi AO. Ocular and systemic findings associated with optic disc colobomas. J Pediatr Ophthalmol Strabismus 2003;40:272–278
   Google Scholar
• Nakamura KM, Diehl NN, Mohney BG. Incidence, ocular findings and systemic associations of ocular coloboma: a population-based study. Arch Ophthalmol 2011;129:69–74
   Google Scholar
• Ragge NK, Subak-Sharpe ID, Collin JRO. A practical guide to the management of anophthlmia and microphthalmia. Eye 2007;21:1290–1300
   PubMedGoogle Scholar
• Denis D, Girard N, Levy-Mozziconacci A, Berbis J, Matonti F. Ocular coloboma and results of brain MRI: preliminary results. J Fr Ophtalmol 2013;36:210–220
   Google Scholar