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Ophthalmological finding in the patient with lowe syndrome
Tomčíková D., Gerinec A., Bzdúch V., Krásnik V., Bušányová B., Brennerová K.
Language English Country Czech Republic
Document type Case Reports
- MeSH
- Medical History Taking MeSH
- Early Diagnosis MeSH
- Diagnostic Techniques, Ophthalmological MeSH
- Cataract Extraction methods MeSH
- Cataract etiology genetics complications pathology MeSH
- Infant MeSH
- Humans MeSH
- Eye Manifestations MeSH
- Oculocerebrorenal Syndrome * diagnosis genetics complications pathology MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Authors present ophthalmological findings in male patient, which was examined because of total bilateral congenital cataract at the age of 4, 5 months. Patient was registered by a neurologist because of central hypotonia and mental retardation. Complex examination suspected Lowe syndrome. Diagnosis of Lowe syndrome was established by metabolic examination and genetic tests. By genetic examination of family members, the gene mutation (OCRL 1gene) was also found in patient´s mother. She had a fine opacification of posterior lens capsule. Patient underwent cataract surgery. By examination under general anesthesia, trabeculodysgenesis was detected. Intraocular pressure reminds normal. Today, patient is 8 years old and is regularly checked by nephrologists, neurologist and ophthalmologist. His visual function remains satisfying. Early diagnosis of Lowe syndrome was made based on a complex evaluation of the patient, by searching for etiology of bilateral congenital cataract.
Klinika detskej oftalmológie DFNsP LFUK Bratislava Bratislava
Paediatric Clinic Faculty of Medicine Comenius University Bratislava
References provided by Crossref.org
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- $a Authors present ophthalmological findings in male patient, which was examined because of total bilateral congenital cataract at the age of 4, 5 months. Patient was registered by a neurologist because of central hypotonia and mental retardation. Complex examination suspected Lowe syndrome. Diagnosis of Lowe syndrome was established by metabolic examination and genetic tests. By genetic examination of family members, the gene mutation (OCRL 1gene) was also found in patient´s mother. She had a fine opacification of posterior lens capsule. Patient underwent cataract surgery. By examination under general anesthesia, trabeculodysgenesis was detected. Intraocular pressure reminds normal. Today, patient is 8 years old and is regularly checked by nephrologists, neurologist and ophthalmologist. His visual function remains satisfying. Early diagnosis of Lowe syndrome was made based on a complex evaluation of the patient, by searching for etiology of bilateral congenital cataract.
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