Yuan Wu1, Yajie Zheng1, Xiaoming Yan1, Yu Huang2, Yuwu Jiang3, Haili Li1. 1. a Department of Ophthalmology , Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education , Beijing , China. 2. b Department of Medical Genetics , Peking University School of Basic Medical Sciences , Beijing , China. 3. c Department of Pediatrics , Peking University First Hospital , Beijing , China.
Abstract
BACKGROUND: Cockayne syndrome is a rare, autosomal recessive, multisystem disorder that causes a senile appearance. Ophthalmic abnormalities are frequently present. Here, we report a wide range of ocular findings in a child with Cockayne syndrome. MATERIALS AND METHODS: The systemic and ocular findings were reviewed. A mutation analysis was performed in the patient and her parents. RESULTS: The patient underwent a complete ocular examination. Both eyes had low visual acuity, corneal epithelial degeneration, punctate opacities of the lens, and retina disorders. The systemic findings included growth deficiency and a senile appearance. Gene analysis showed mutations in exons 4 and 18 of the ERCC6 gene. CONCLUSION: Multiple ocular abnormalities were observed in a patient with Cockayne syndrome. A detailed ophthalmic evaluation of children with Cockayne syndrome is advised.
BACKGROUND:Cockayne syndrome is a rare, autosomal recessive, multisystem disorder that causes a senile appearance. Ophthalmic abnormalities are frequently present. Here, we report a wide range of ocular findings in a child with Cockayne syndrome. MATERIALS AND METHODS: The systemic and ocular findings were reviewed. A mutation analysis was performed in the patient and her parents. RESULTS: The patient underwent a complete ocular examination. Both eyes had low visual acuity, corneal epithelial degeneration, punctate opacities of the lens, and retina disorders. The systemic findings included growth deficiency and a senile appearance. Gene analysis showed mutations in exons 4 and 18 of the ERCC6 gene. CONCLUSION:Multiple ocular abnormalities were observed in a patient with Cockayne syndrome. A detailed ophthalmic evaluation of children with Cockayne syndrome is advised.