Visually impaired children with posterior ocular malformations: Pre- and neonatal data and visual functions

Acta Ophthalmologica Scandinavica

Volumn 81, Issue 4, 2003, Pages 361-372

  Fahnehjelm, Kristina Teär ^a   Jacobson, Lena ^b   Hellström, Ann ^c   Lewensohn Fuchs, Ilona ^a   Ygge, Jan ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b Tomteboda Resource Centre   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Coloboma; Endocrinopathy; Hypoglycaemia; Optic nerve hypoplasia; Virus

Indexed keywords

ACETYLSALICYLIC ACID; ALCOHOL; ANTIBIOTIC AGENT; ANTIDEPRESSANT AGENT; ANTIHISTAMINIC AGENT; ANTIMIGRAINE AGENT; BRONCHODILATING AGENT; CYANOCOBALAMIN; FOLIC ACID; LABETALOL; LEVOTHYROXINE SODIUM; ORAL CONTRACEPTIVE AGENT; PARACETAMOL; RETINOL; TERATOGENIC AGENT; TETRACYCLINE; VIRUS DNA;

ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; COLOBOMA; CONTROLLED STUDY; DISEASE SEVERITY; ENDOCRINE DISEASE; EYE MALFORMATION; FEMALE; HERPES SIMPLEX VIRUS 1; HUMAN; HYPOGLYCEMIA; MALE; MEDICAL RECORD; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; POLYMERASE CHAIN REACTION; PRENATAL EXPOSURE; PRIORITY JOURNAL; VISUAL IMPAIRMENT; VISUAL SYSTEM FUNCTION;

CHILD; CHILD, PRESCHOOL; CHOROID; COLOBOMA; FEMALE; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; MALE; OCULAR MOTILITY DISORDERS; OPTIC NERVE; REFRACTION, OCULAR; RETINA; VISION DISORDERS; VISUAL ACUITY; VISUAL FIELDS; VISUALLY IMPAIRED PERSONS;

EID: 0043173701     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.2003.00100.x     Document Type: Article

References (50)

1. Benke PJ (1984): The isotretinoin teratogen syndrome. JAMA 251: 3267-3269.
2. Blohmé J & Tornqvist K (1997a): Visual impairment in Swedish children. II. Aetiological factors. Acta Ophthalmol Scand 75: 199-205.
3. Blohmé J & Tornqvist K (1997b): Visual impairment in Swedish children. III. Diagnoses. Acta Ophthalmol Scand 75: 681-687.
4. Brodsky MC, Conte FA, Taylor D, Hoyt CS & Mrak RE (1997): Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol 115: 66-70.
5. Brodsky MC & Glasier CM (1993): Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. [Published erratum appears in Arch Ophthalmol 1993; 111 (4):491]. Arch Ophthalmol 111: 66-74.
6. Brown GC (1982): Optic nerve hypoplasia and colobomatous defects. J Pediatr Ophthalmol Strabismus 19: 90-93.
7. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS & Robinson IC (1998): Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19: 125-133.
8. Davis GV & Shock JP (1975): Septo-optic dysplasia associated with see-saw nystagmus. Arch Ophthalmol 93: 137-139.
9. Dolk HM, Nau H, Hummler H & Barlow SM (1999): Dietary vitamin A and teratogenic risk: European Teratology Society discussion paper. Eur J Obstet Gynecol Reprod Biol 83: 31-36.
10. Duke Elder S (1963): System of Ophthalmology. London: Louis CV Mosby 3: 456-481.
11. Ericson A, Källén B & Wiholm B (1999): Delivery outcome after the use of antidepressants in early pregnancy. Eur J Clin Pharmacol 55: 503-508.
12. Fahnehjelm K T, Wide K, Flodmark O, Ek U & Hellström A (2003a): Posterior ocular malformations in children- somatic, neuroradiological and cognitive aspects. Acta Paediatr 92: 301-308.
13. Fahnehjelm KT, Fischler B, Jacobson L & Nemeth A (2003b): Optic nerve hypoplasia in cholestatic infants: a multiple ase study. Acta Ophthalmol Scand 81: 130-137.
14. Fielder AR, Fulton AB & Mayer DL (1991): Visual development of infants with severe ocular disorders. Ophthalmology 98: 1306-1309.
15. Fielder AR, Russell-Eggitt IR, Dodd KL & Mellor DH (1985): Delayed visual maturation. Trans Ophthalmol Soc UK 104: 653-661.
16. Filous A, Raskova D & Kodet R (1998): Retinal detachment in an infant with the ring chromosome 13 syndrome. Acta Ophthalmol Scand 76: 739-741.
17. Fischler B, Rodensjo P, Nemeth A, Forsgren M & Lewensohn-Fuchs I (1999): Cytomegalovirus DNA detection on Guthrie cards in patients with neonatal cholestasis. Arch Dis Child Fetal Neonatal Ed 80: 130-134.
18. Frisen L & Holmegaard L (1978): Spectrum of optic nerve hypoplasia. Br J Ophthalmol 62: 7-15.
19. Good WV, Ferriero DM, Golabi M & Kobori JA (1992): Abnormalities of the visual system in infants exposed to cocaine. Ophthalmology 99: 341-346.
20. Hellström A, Chen Y & Svensson E (1998): Optic disc size and retinal vessel characteristics in healthy children. Acta Ophthalmol Scand 76: 260-267.
21. Hellström A, Wiklund LM & Svensson E (1999a): The clinical and morphologic spectrum of optic nerve hypoplasia. JAAPOS 3: 212-220.
22. Hellström A, Wiklund LM, Suensson E, Albertsson-Wikland K & Stromland K (1999b): Optic nerve hypoplasia with isolated tortuosity of the retinal veins: a marker of endocrinopathy. Arch Ophthalmol 117: 880-894.
23. Hittner HM, Desmond MM & Montgomery JR (1976): Optic nerve manifestations of human congenital cytomegalovirus infection. Am J Ophthalmol 81: 661-665.
24. Hornby SJ, Adolph S, Gilbert CE, Dandona L & Foster A (2000): Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology 107: 511-520.
25. Hotchkiss ML & Green WR (1979): Optic nerve aplasia and hypoplasia. J Pediatr Ophthalmol Strabismus 16: 225-240.
26. Hoyt CS (1978): Optic disc anomalies and maternal ingestion of LSD. J Pediatr Ophthalmol 15: 286-289.
27. Hoyt CS & Billson FA (1978): Maternal anticonvulsants and optic nerve hypoplasia. Br J Ophthalmol 62: 3-6.
28. Kivela T, Salonen R & Paetau A (1996): Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. Acta Neuropathol (Berl) 91: 511-518.
29. Lambert SR, Taylor D, Kriss A, Holzel H & Heard S (1989): Ocular manifestations of the congenital varicella syndrome. Arch Ophthalmol 107: 52-56.
30. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW, Lott IT, Richard JM & Sun SC (1985): Retinoic acid embryopathy. N Engl J Med 313: 837-841.
31. Lewensohn-Fuchs I, Öserwall P, Forsgren M & Malm G (2003): Detection of herpes simplex virus DNA in dried blood spots making a retrospective diagnosis possible. J Clin Virol 26: 39-48.
32. Margalith D, Jan JE, McCormick AQ, Tze WJ & Lapointe J (1984): Clinical spectrum of congenital optic nerve hypoplasia: review of 51 patients. Dev Med Child Neurol 26: 311-322.
33. Onwochei BC, Simon JW, Bateman JB, Couture KC & Mir E (2000): Ocular Colobomata. Surv Ophthalmol 45: 175-194.
34. Pecorella I, Novacco V, DaDalt S, Ciardi A, Salvati G & Santillo C (2002): Bilateral ocular malformations in a newborn with normal karyotype: histologic findings. Ann Diagn Pathol 6: 319-325.
35. Robinson GC & Conry RF (1986): Maternal age and congenital optic nerve hypoplasia: a possible clue to aetiology. Dev Med Child Neurol 28: 294-298.
36. Sadler TW (2000): Eye. Langman's Medical Embryology. 8th edn. Baltimore: Lippincott, Williams & Wilkins. 394-404.
37. Skarf B & Hoyt CS (1984): Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS. Arch Ophthalmol 102: 62-67.
38. Slamovits TL, Kimball GP, Friberg TR & Curtin HD (1989): Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm. J Clin Neuroophthalmol 9: 172 177.
39. Smithells RW (1973): Defects and disabilities of thalidomide children. Br Med J 1: 269-272.
40. Sperling MA (1990): Hypoglycaemia in the newborn, infant and child. In: Lifshitz F (ed). Pediatric Endocrinology. New York: Marcel Dekker 7: 805-812.
41. Strömland K (1985): Ocular abnormalities in the fetal alcohol syndrome. Acta Ophthalmol Scand 171 (Suppl): 1-50.
42. Strömland K, Hellström A & Gustavsson T (1995): Morphometry of the optic nerve and retinal vessels in children by computer-assisted image analysis of fundus photographs. Graefes Arch Clin Exp Ophthalmol 233: 150-153.
43. Sutcliffe A, Jones R & Woodruff G (1998): Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalmic Genet 19: 59-62.
44. Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J & Fujieda K (2003): Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab 88: 45-50.
45. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson ICAF & Beddington RSP (2001): Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10: 39-45.
46. Tornqvist K, Ericsson A & Källén B (2002): Optic nerve hypoplasia: Risk factors and epidemiology. Acta Ophthalmol Scand 80: 300-304.
47. Wales JKH & Quarrell OWJ (1996): Evidence for possible Mendelian inheritance of septo-optic dysplasia. Acta Paediatr 85: 391-392.
48. Warburg M (1993): Classification of microphthalmos and coloboma. [Review.] J Med Genet 30: 664-669.
49. Willnow S, Kiess W, Butenandt O, Dorr HG, Enders A, Strasser-Vogel B, Egger J & Schwarz HP (1996): Endocrine disorders in septo-optic dysplasia (De Morsier syndrome): evaluation and follow-up of 18 patients. Eur J Pediatr 155: 179-184.
50. World Health Organization (1997): Blindness and Visual Disability, General Information. http://www.who.int/inf-fs/en/fact142.html.