Cataract in patients with congenital deficiency of galactokinase: case report
Authors:
Dana Tomčíková 1; Vladimir Bzdúch 2; Darina Behúlová 3; Anton Gerinec 1
Authors place of work:
Klinika detskej oftalmológie LF UK a DFNsP Bratislava
1; I. detská klinika LF UK a DFNsP Bratislava
2; Oddelenie laboratórnej medicíny DFNsP Bratislava
3
Published in the journal:
Forum Diab 2017; 6(1): 49-51
Category:
Case Report
Summary
Authors present a rare case of 8-month old male with bilateral cataract formation. He was diagnosed with galaktokinase deficiency based on metabolic screening in bilateral congenital cataract. Patient undervent cataract extraction. After galactose restricted diet the patient appeared normal with no signs of developmental delay. There is aphakia and indistinctive horizontal nystagmus caused by delayed diagnosis of cataract.
Key words:
congenital galaktokinase deficiency, bilateral congenital cataract
Received:
1. 1. 2017
Accepted:
13. 2. 2017
Zdroje
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6. Brivet M, Migayron F, Roger J et al. Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia. J Inherit Metab Dis 1989; 12(Suppl 2): 343–345.
7. Brivet M, Raymond JP, Konopka P et al. Effect of lactation in a mother with galactosemia. J Pediatr 1989; 115(2): 280–282.
8. Prchal JT, Conrad ME, Skalka HW. Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet 1978; 1(8054): 12–13.
9. Elkin ZP, Piluek WJ, Fredrick DR. Revisiting secondary capsulotomy for posterior capsule management in pediatric cataract surgery. J AAPOS 2016; 20(6): 506–510. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaapos.2016.06.011>.
Štítky
Diabetology Endocrinology Internal medicineČlánok vyšiel v časopise
Forum Diabetologicum
2017 Číslo 1
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