Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years

British Journal of Ophthalmology

Volumn 80, Issue 10, 1996, Pages 900-902

  Casteels, I ^a   Spileers, W ^a   Leys, A ^a   Lagae, L ^a   Jaeken, J ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CONGENITAL DISORDER OF GLYCOSYLATION; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; FEMALE; HUMAN; MONOZYGOTIC TWINS; OPHTHALMOLOGY; OPHTHALMOSCOPY; OPTIC DISK; PIGMENTATION; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; STRABISMUS; VISUAL ACUITY;

EID: 0029908518     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.80.10.900     Document Type: Article

References (11)

1. Jaeken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes. Pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-8.
2. Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous sytem involvement. Acta Paediatr Scand Suppl 375: (monograph) 1991.
3. Kristiansson B, Andersson M, Tonnby B, Hagberg B. Disialotransferrin developmental deficiency syndrome. Arch Dis Child 1989;64:71-6.
4. Stromland K, Hagberg B, Kristiansson B. Ocular pathology in disialotransferrin developmental deficiency syndrome. Ophthalmol Pediatr Genet 1990;11:309-13.
5. Andreasson S, Blennow G, Ehinger B, Stromland K. Full field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome. Am J Ophthalmol 1991; 112:83-6.
6. Fiumara A, Barone R, Buttina P, Di Piedro M, Scuderi A, Nigro F, et al. Carbohydrate deficient glycoprotein syndrome type 1: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol 1994;78:845-6.
7. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 1980;14:179.
8. Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R., Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984;144:245-7 .
9. Jaeken J, Eggermont E, Stibler H. An apparent homozygous X-linked disorder with carbohydrate deficient serum glycoproteins. Lancet 1987;iii:1398.
10. Alfieri R, Sole P. Adapto-électrorétinogramme en lumière monochromatique chez l'homme et analyse formelle des potentiels rétiniens. CR Soc Biol (Paris) 1966;160:1882-6.
11. Standard for Clinical Electroretinography - International Standardization Committee. Arch Ophthalmol 1989;107: 816-9.