ISSN: 1300-0365
Dil: Türkçe
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Cockayne Syndrome: A Case Report
Hamdi ER*, Ramazan KUTLU**
* Yrd.Doç.Dr.İnönü Üniv. Tıp Fakültesi Turgut Özal Tıp Merkezi Göz Hastalıkları AD,** Araş.Gör.Dr.İnönü Üniv. Tıp Fakültesi Turgut Özal Tıp Merkezi Radyodiagnostik AD, MALATYA
Cockayne syndrome (CS) is a progressive multisystem disease that affects especially boys in the first decade. This syndrome is a rare and autosomal recessive disorder characterized clinically by cachectic dwarfism, a bird-like head (microsephaly) appearance and neurologic deterioration. The main ocular findings are retinitis pigmentosa, nystagmus, and less likely cataract, corneal opacity, optic atrophy. Although the pathogenesis is unknown, the major defect is thought to be deficiency in the preferential repair of DNA damage. The disorder is mostly terminated with mortality into the second decade. We report herein a 11-year-old boy with CS to be rare and to be awake when come across especially boys with retinitis pigmentosa, nystagmus, special head appearance and dwarfism.Keywords: Cockayne syndrome, Dwarfism, Retinitis pigmentosaTurkiye Klinikleri Oftalmoloji 1997, 6:203-205
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