Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene |
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Authors: | Yuan Wu Yajie Zheng Xiaoming Yan Yu Huang Yuwu Jiang |
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Institution: | 1. Department of Ophthalmology, Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China;2. Department of Medical Genetics, Peking University School of Basic Medical Sciences, Beijing, China;3. Department of Pediatrics, Peking University First Hospital, Beijing, China |
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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. |
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Keywords: | Cockayne syndrome ocular abnormalities optical coherence tomography |
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