Issue 2018 - 3

Case report

Ophthalmological Finding in the Patient with Lowe Syndrome

Summary

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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