Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin

Saloni Walia; Gerald A Fishman; Robert S Molday; Frank M Dyka; Nalin M Kumar; Mary A Ehlinger; Edwin M Stone

doi:10.1016/j.ajo.2008.07.041

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Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin

Journal article

Peer reviewed

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin

Saloni Walia, Gerald A Fishman, Robert S Molday, Frank M Dyka, Nalin M Kumar, Mary A Ehlinger and Edwin M Stone

American journal of ophthalmology, Vol.147(1), pp.111-115.e1

01/2009

DOI: 10.1016/j.ajo.2008.07.041

PMCID: PMC2668603

PMID: 18834580

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Abstract

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. Retrospective case series. 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. 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. 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.

Polymerase Chain Reaction

Cysts - drug therapy

Thiophenes - therapeutic use

Mutagenesis, Site-Directed

Ophthalmic Solutions - therapeutic use

Tomography, Optical Coherence

Humans

Retinoschisis - genetics

Gene Expression Regulation - physiology

Retinoschisis - drug therapy

Male

Mutation, Missense

Blotting, Western

Young Adult

Sulfonamides - therapeutic use

DNA Mutational Analysis

Adult

Retrospective Studies

Eye Proteins - genetics

Carbonic Anhydrase Inhibitors - therapeutic use

Details

Title: Subtitle: Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin
Creators: Saloni Walia - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
Gerald A Fishman
Robert S Molday
Frank M Dyka
Nalin M Kumar - University of Illinois Chicago
Mary A Ehlinger
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.147(1), pp.111-115.e1
DOI: 10.1016/j.ajo.2008.07.041
PMID: 18834580
PMCID: PMC2668603
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: R01 EY002422 / NEI NIH HHS YO 1792 / PHS HHS R01 EY002422-29 / NEI NIH HHS EY 02422 / NEI NIH HHS Howard Hughes Medical Institute P30 EY001792 / NEI NIH HHS P30 EY001792-30 / NEI NIH HHS
Language: English
Date published: 01/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980046902771

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