Novel Ocular Features in a Child with Marinesco-Sjögren Syndrome: Case Report and Literature Review
| Autor: | Abdulrahman Gharkan, Igor Kozak, Syed M. Ali, Thomas M. Bosley |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
genetic structures Cerebellar ataxia business.industry Prominent corneal nerves medicine.medical_treatment Marinesco–Sjögren syndrome Rare entity Cataract surgery medicine.disease Dermatology eye diseases 03 medical and health sciences 0302 clinical medicine Cataracts Medicine public health 030221 ophthalmology & optometry medicine sense organs medicine.symptom business Myopathy 030217 neurology & neurosurgery |
| Zdroj: | SN Comprehensive Clinical Medicine. 3:1968-1972 |
| ISSN: | 2523-8973 |
| DOI: | 10.1007/s42399-021-00974-5 |
| Popis: | To report novel ocular findings in unique Marinesco-Sjögren syndrome (early-onset cataracts, cerebellar ataxia, and a progressive myopathy), review literature, and discuss causes of vision decrease in this rare entity. A 3-year-old girl diagnosed with Marinesco-Sjögren syndrome underwent uneventful cataract surgery in both eyes within 1 week of her 2nd birthday. This was exactly similar to her sister and other two related family members. Additionally, she had prominent corneal nerves and subtle corneal subepithelial deposits in both eyes. Cataracts are one of the primary diagnostic criteria for the Marinesco-Sjögren syndrome, and their early diagnosis and treatment are important for prevention of additional permanent visual loss. Prominent corneal nerves and mild corneal subepithelial defects are described in this report and may occasionally be helpful in making the diagnosis. |
| Databáze: | OpenAIRE |
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