Cataract in patients with congenital deficiency of galactokinase: case report


Authors: Dana Tomčíková 1;  Vladimir Bzdúch 2;  Darina Behúlová 3;  Anton Gerinec 1
Authors‘ workplace: 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: Forum Diab 2017; 6(1): 49-51
Category: Case Report

Overview

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


Sources

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Labels
Diabetology Endocrinology Internal medicine
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