- Türkiye Çocuk Hastalıkları Dergisi
- Volume:17 Issue:6
- Ophthalmological Findings in Metabolic Diseases
Ophthalmological Findings in Metabolic Diseases
Authors : Oya Kireker Köylü, Çiğdem Seher Kasapkara
Pages : 506-513
Doi:10.12956/tchd.1271228
View : 206 | Download : 439
Publication Date : 2023-11-27
Article Type : Review Paper
Abstract :Inherited metabolic diseases are rare genetic disorders caused by synthesis disorders affecting protein, carbohydrate and lipid metabolisms, impaired enzyme activity, and deficiency of cofactors or transporters. More than 1000 inherited metabolic diseases have been reported. The prevalence of each disease is rare. However, the overall prevalence is not rare as expected. Inherited metabolic diseases can occur at any age, from prenatal to adulthood. The clinical features are mostly progressive when left untreated. Most diseases occur at young ages and often with more than one organ involvement. In Inherited metabolic diseases, eye involvement may be primary or secondary, and the findings may be local or systemic. The toxic effect of abnormal metabolites or accumulation of normal metabolites is usually responsible for the pathogenesis. Early recognition of treatable inherited metabolic diseases is important as it may change the treatment outcome of the patient. Ophthalmological findings may be in the form of cataract, corneal clouding, retinitis pigmentosa, cherry red spot and optic atrophy. Bilateral symmetrical involvementKeywords : Göz bulguları, Kalıtsal metabolik bozukluklar, Nadir hastalıklar
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