A case report of Werner’s syndrome with bilateral juvenile cataracts
| Autor: | Xiang Zhang, Guan-hong Zhang, Chunli Chen, Xin-guo Jia, Tian Tian, Jia-song Yang, Rui Zeng |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Premature aging congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty genetic structures Case Report Short stature Cataract 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine lcsh:Ophthalmology Werner’s syndrome Lens Crystalline Photography medicine Humans Ultrasonography Werner's syndrome Genetic testing Juvenile cataract medicine.diagnostic_test business.industry WRN mutation nutritional and metabolic diseases General Medicine eye diseases Impaired Vision Pedigree Ophthalmology 030104 developmental biology lcsh:RE1-994 Clinical diagnosis Mutation (genetic algorithm) Werner Syndrome sense organs medicine.symptom business |
| Zdroj: | BMC Ophthalmology BMC Ophthalmology, Vol 18, Iss 1, Pp 1-4 (2018) |
| ISSN: | 1471-2415 |
| DOI: | 10.1186/s12886-018-0873-4 |
| Popis: | Background To report a case of Werner’s syndrome with bilateral juvenile cataracts. Case presentation Review of the clinical, laboratory, photographic, genetic testing of the patient. A 26-year-old Chinese man presented with impaired vision in both eyes for more than a year. Anterior segment examination of both eyes revealed cataract. According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner’s syndrome was made. Next-generation sequencing identified a homozygous WRN mutation in this patient. Conclusions The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner’s syndrome diagnosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink