Ophthalmic genetics · 2016
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
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Wu Yuan, Zheng Yajie, Yan Xiaoming, Huang Yu, Jiang Yuwu, Li Haili
Аннотация
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.
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.