الفهرس 
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Abstract
Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic.
This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean, or Middle-Eastern descent. Approximately 400 million people are affected worldwide.
The conversion of nicotinamide adenine dinucleotide phosphate to its reduced form in erythrocytes is the basis of diagnostic testing for the deficiency. This usually is done by fluorescent spot test.
Different gene mutations cause different levels of enzyme deficiency, with classes assigned to various degrees of deficiency and disease manifestation. The variant that causes chronic hemolysis is uncommon because it is related to sporadic gene mutation rather than the more common inherited gene mutation.
Because acute hemolysis is caused by exposure to an oxidative stressor in the form of an infection, oxidative drug, or fava beans, treatment is geared toward avoidance of these and other stressors. Acute hemolysis is self-limited, but in rare instances it can be severe enough to warrant a blood transfusion. Neonatal hyperbilirubinemia may require treatment with phototherapy or exchange transfusion to prevent kernicterus.
However, more evidences are correlating G6PD deficiency with other diseases as G6PD is a critical metabolic enzyme that regulates many Physiological processes. Thus, this editorial discusses an evolving field where G6PD deficiency alters risk of ocular diseases.
Insufficient supply of NADPH in G6PD-deficient subjects can cause significant deleterious effects on cellular physiology and cellular survival as decreased synthesis of Glutathione. Accordingly, G6PD deficiency may be sufficient to cause disease.
The aim of this work: was to know the relation between G6PD deficiency disease and its affection on retina in pediatrics using fundus examination of 40 children previously diagnosed to have G6PD deficiency.
Patients and methods: the study including 40 children diagnosed to have G6PD deficiency at hematology pediatric department, Beni-Suef university hospital. Fundus examination was done using indirect ophthalmoscope.
Results: out of the 40 children 22 had normal fundus examination (55%) & 10 hyperemic disc (25%) and 8 have disc cupping (20%).
Conclusion: subjects with G6PD deficiency are under risk for certain ocular diseases, needing more accurate follow up using retinogram and angiography at older age.
Recommendations:
All pale patients should be screened for G6PD deficiency.
All G6PD deficiency patients should be exposed to fundus examination, since they are under risk for certain ocular diseases especially above age of 10 years.
All patients with G6PD deficiency who having abnormal fundus examination should be followed up by retinal angiography at age of 13 years and retinogram at age of 18 years for proper assessment of their retina.