Metabolik Hastalıklarda Göz Bulguları

Abstract

Kalıtsal Metabolik Hastalıklar; protein, karbonhidrat ve lipid metabolizmalarını etkileyen sentez bozukluklarından, bozulmuş enzim aktivitesi, kofaktör veya taşıyıcı protein eksikliğinden kaynaklanan nadir görülen genetik bozukluklardır. 1000’den fazla hastalık bildirilmiştir. Metabolik hastalıklar her biri ayrı ayrı düşünüldüklerinde seyrek görüldükleri düşünülse de toplu olarak düşünüldüğünde önemli bir grup hastalığı oluşturmaktadır. Kalıtsal metabolik hastalıklar doğum öncesi dönemden yetişkinliğe kadar her yaşta ortaya çıkabilir. Klinik özellikler tedavi edilmediği taktirde çoğunlukla ilerleyicidir. Çoğu hastalık; genç yaşlarda ve sıklıkla birden fazla organ tutulumu ile ortaya çıkar. Kalıtsal metabolik hastalıklarda göz tutulumu primer veya sekonder olabileceği gibi bulgular lokal veya sistemik olabilir. Patogenezden genellikle anormal metabolitlerin toksik etkisi veya normal metabolitlerin birikimi sorumludur. Tedavi edilebilir kalıtsal metabolik hastalıkların erken tanınması, hastanın tedavi sonucunu değiştirebileceği için önemlidir. Oftalmolojik bulgular katarakt, korneal bulanıklık, retinitis pigmentoza, kiraz kırmızısı leke ve optik atrofi şeklinde olabilir. Bilateral simetrik tutulum beklenmektedir. Bu makalede kalıtsal metabolik hastalıklarda görülebilecek göz bulguları tartışılacaktır.

Keywords

• Göz bulguları
• Kalıtsal metabolik bozukluklar
• Nadir hastalıklar

Ophthalmological Findings in Metabolic Diseases

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 involvement is expected. In this article, eye findings that can be seen in hereditary metabolic diseases will be discussed.

Keywords

• Ophthalmological findings
• Inherited metabolic disorders
• Rare Diseases

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