title: Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
abstract: 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.
  
  
  
  The systemic and ocular findings were reviewed. A mutation analysis was performed in the patient and her parents.
  
  
  
  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.
  
  
  
  Multiple ocular abnormalities were observed in a patient with Cockayne syndrome. A detailed ophthalmic evaluation of children with Cockayne syndrome is advised.
authors.affiliation: a Department of Ophthalmology , Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education , Beijing , China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wu
authors.affiliation: a Department of Ophthalmology , Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education , Beijing , China.
authors.forename: Yajie
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: a Department of Ophthalmology , Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education , Beijing , China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Yan
authors.affiliation: b Department of Medical Genetics , Peking University School of Basic Medical Sciences , Beijing , China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Huang
authors.affiliation: c Department of Pediatrics , Peking University First Hospital , Beijing , China.
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: a Department of Ophthalmology , Peking University First Hospital Key Laboratory of Vision Loss and Restoration, Ministry of Education , Beijing , China.
authors.forename: Haili
authors.initials: H
authors.lastname: Li
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D000075223:Poly-ADP-Ribose Binding Proteins; D041623:Tomography, Optical Coherence
chemical_list: D018389:Codon, Nonsense; D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes
keywords: Cockayne syndrome; ocular abnormalities; optical coherence tomography