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Xiaowan Ma, ke ning, Tia Kowal, Yang Sun; Oculocerebrorenal Syndrome of Lowe: Characterizations of Ocular Presentation and Management. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1132.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the clinical manifestations of eye disease in a large cohort of Oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare X-linked recessive disease, caused by mutations in the OCRL gene. Affected patients develop congenital cataracts and glaucoma, mental and motor retardation and renal tubular dysfunction. Due to the rarity of disease, there is a paucity of clinical information for both clinicians and scientists for this condition. Therefore, the purpose of this study is to report the clinical characteristics and frequency of ocular conditions of Lowe syndrome.
Retrospective study of ophthalmologic presentations of 137 patients with clinically diagnoses of Lowe syndrome. We collected the medical history and ophthalmologic exams of affected patient, especially to evaluate the clinical manifestations of eyes such as cataracts, glaucoma, strabismus, nystagmus and corneal diseases.
The mean current age of affected patients is 15.5 yrs (0.83~42yr).The average age of clinical diagnosis was 2.0 yrs (0.01~26yrs). Twenty-five percent of patients’ mothers have premature cataracts, with the average age of clinical diagnosis in maternal cataracts of 27.8 yrs. All patients with Lowe syndrome developed bilateral cataracts, and the mean diagnosed age was 0.1 yrs (0.01~2.0yrs). Other ophthalmological findings include glaucoma 54.7%, strabismus 35.0%, corneal scar 18.2%, and nystagmus 69.3%.
This study described the clinical features of ocular phenotypes of Lowe syndrome patients. Because ocular diseases in this condition are often observed first,this study provides critical information that may be useful for clinicians caring for these patients.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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