Ophthalmologic findings in a case of Sjögren-Larsson syndrome

Objective & Hypothesis:Sjögren-Larsson syndrome (SLS) is a recessively inherited disorder characterized by congenital icthyosis, spastic diplegia and mental retardation.

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Key Findings & Data:The disorder is caused by mutations in the aldehyde dehydrogenase family 3, subfamily A2 gene on 17th cromosome.

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Conclusion & Impact:We report on ophthalmological features of SLS in our 9 years old female patient.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Çocuk · Kristalinler · Kadın

Abstract

Sjögren-Larsson syndrome (SLS) is a recessively inherited disorder characterized by congenital icthyosis, spastic diplegia and mental retardation. The disorder is caused by mutations in the aldehyde dehydrogenase family 3, subfamily A2 gene on 17th cromosome. Patients exibit highly charecteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. We report on ophthalmological features of SLS in our 9 years old female patient.

Özet

Sjögren-Larsson sendromu (SLS) nadir görülen ve özellikle kristalin makülopati yapan hastalıklarla ayırıcı tanısı gerekli olan bir hastalıktır. Hastalık otozomal resesif kalıtım göstermektedir. 17. kromozomda lokalize olan aldehid dehidrogenaz grup 3, alt grup A2 geninde oluşan mutasyonların hastalığa yol açtığı bilinmektedir. Klasik triadı mental retardasyon, spastisite ve konjenital iktiyosiztir. Hastalığın ilk yıllarında fundus muayenesinde karakteristik bilateral parlak beyaz-sarı görünümde kristal birikimleri gözlenmektedir. Bu makalemizde, SLS tanısı konulan 9 yaşındaki bayan hastamızda tespit edilen göz muayene bulgularının ve hastalığın genel özelliklerinin sunulması amaçlanmıştır.

Keywords

Çocuk Kristalinler Kadın Retina hastalıkları Sjogren-Larsson sendromu Zihinsel engellilik Child Crystallins Female Retinal Diseases Sjogren-Larsson Syndrome Intellectual Disability

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Cite This Article

DEMİR, S., BEDEN, Ü., ÖZARSLAN, M., ERKAN, D. (2009). Ophthalmologic findings in a case of Sjögren-Larsson syndrome. Retina-Vitreus, Cilt: 17 - Sayı: 1, 65–68. https://ajindex.com/articles/305182

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