Bilateral cataract in childhood years: Always an indication for screening on a metabolic disorder;Bilateraal cataract op de kinderleeftijd: Altijd een indicatie voor aanvullend onderzoek naar stofwisselingsziekten

Nederlands Tijdschrift voor Geneeskunde

Volumn 152, Issue 11, 2008, Pages 632-636

  Wijburg, L J ^a,b   Maillerte De Buy Wenniger Prick, A M ^a,c   Bosch, A ^a,c   Bams Mengerink, G ^a,c   Visser, G ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c Afd Oogheelkunde ^*

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CHILDHOOD DISEASE; CHONDRODYSPLASIA PUNCTATA; DISEASE SEVERITY; FEMALE; GALACTOKINASE DEFICIENCY; GENETIC COUNSELING; HUMAN; INFANT; MALE; METABOLIC DISORDER; NEWBORN; PRENATAL SCREENING; SCHOOL CHILD; SYMPTOMATOLOGY;

CATARACT; CHILD; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; GALACTOSEMIAS; GENETIC COUNSELING; HUMANS; INFANT; MALE; XANTHOMATOSIS;

EID: 41149144588     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Rahi JS, Dezateux C. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci. 2001;42:1444-8.
2. Zetterström C, Lundvall A, Kugelberg M. Cataracts in children. J Cataract Refract Surg. 2005;31:824-40.
3. Rahi JS, Dezateux C. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci. 2000;41:2108-14.
4. Bosch AM, Bakker HD, Gennip AH van, Kempen JV van, Wanders RJ, Wijburg FA. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2002;25:629-34.
5. Bosch AM, IJlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005;25:502.
6. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006;27:143-9.
7. Verrips A. Cerebrotendineuze xanthomatosis. Ned Tijdschr Geneeskd. 2001;145:1673-7.
8. Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005;67:107-33.
9. Heymans HS, Oorthuys JW, Nelck G, Wanders RJ, Schutgens RB. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med. 1985;313:187-8.
10. Rodemer C, Thai TP, Brugger B, Kaercher T, Werner H, Nave KA, et al. Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum Mol Genet. 2003;12:1881-95.
11. Poll-The BT, Maillette de Buy Wenniger-Prick LJ, Barth PG, Duran M. The eye as a window to inborn errors of metabolism. J Inherit Metab Dis. 2003;26:229-44.
12. Cruysberg JR, Wevers RA, Engelen BG van, Pinckers A, Spreeken A van, Tolboom JJ. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol. 1995;120:597-604.
13. Mullner-Eidenböck A, Amon M, Moser E, Klebermass N. Persistent fetal vasculature and minimal fetal vascular remnants: a frequent cause of unilateral congenital cataracts. Ophthalmology. 2004;111:906-13.