Abstract:
PURPOSE:To determine if a positive response of macular cysts to treatment with dorzolamide eye drops in patients with juvenile X-linked retinoschisis (XLRS) can occur with mutations that result in different types of retinoschisin protein dysfunction. DESIGN:Retrospective case series. METHODS:Thirteen eyes of seven patients seen at the University of Illinois at Chicago with a known diagnosis of XLRS were included. Each patient had received or currently was receiving treatment with topical dorzolamide. One patient from each family was screened for a genetic mutation. Using the method of cell transfection and protein preparation, the mutation in each patient was analyzed further and was categorized into one of three groups: 1) total absence of retinoschisin protein secretion, 2) decreased expression of the secreted protein, or 3) secretion of a nonfunctional protein. The response to dorzolamide was observed using optical coherence tomography. RESULTS:Significant improvement in the foveal zone thickness was observed with the use of dorzolamide in three of four patients with absence of protein secretion, in two patients with a lack of protein expression, and in one patient with a nonfunctional protein secretion. CONCLUSIONS:This study showed that the response of macular cysts to dorzolamide in patients with XLRS may be observed independent of the mechanism responsible for retinoschisin protein dysfunction. Hence, treatment with dorzolamide may be effective in patients with different mechanisms of dysfunction in retinoschisin.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Walia S,Fishman GA,Molday RS,Dyka FM,Kumar NM,Ehlinger MA,Stone EMdoi
10.1016/j.ajo.2008.07.041subject
Has Abstractpub_date
2009-01-01 00:00:00pages
111-115.e1issue
1eissn
0002-9394issn
1879-1891pii
S0002-9394(08)00609-0journal_volume
147pub_type
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journal_title:American journal of ophthalmology
pub_type: 杂志文章,评审
doi:
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
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更新日期:2016-07-01 00:00:00
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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更新日期:2004-01-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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更新日期:2017-04-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
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更新日期:1993-10-15 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2010.07.019
更新日期:2011-01-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
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