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Published in: Documenta Ophthalmologica 3/2010

01-12-2010 | Case report

Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

Authors: Mohamed A. Genead, Gerald A. Fishman, J. Jason McAnany

Published in: Documenta Ophthalmologica | Issue 3/2010

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Abstract

The purpose of this study was to evaluate the efficacy of topical dorzolamide 2% eye drops on macular function and thickness in a case of enhanced S-cone syndrome (ESCS). A 24-year-old Asian man with enhanced S-cone syndrome treated with topical dorzolamide in the left eye participated in the study. Examinations performed before and during treatment were included visual acuity (VA), contrast sensitivity measured with briefly presented grating targets (grating CS) and the Pelli-Robson chart (P-R CS), microperimetry (MP), and spectral-domain optical coherence tomography (SD-OCT). Following 4 months of treatment, the mean thickness of the central 1-mm foveal subfield of the left eye, as measured by SD-OCT, decreased from 551 to 242 μm. Mean MP sensitivity within the central 12 degrees (28 points) increased from 9.4 dB at baseline to 11.2 dB. Although Pelli-Robson contrast sensitivity improved only minimally in the left eye, grating contrast sensitivity improved by more than a factor of two. Mean log MAR VA was 0.22 OD and 1.00 OS (at baseline), which improved to 0.10 OD and 0.66 OS after 4 months of treatment. The results indicate that in our patient with enhanced S-cone syndrome, treatment with topical dorzolamide was effective in improving macular thickness, VA, microperimetry sensitivity, and grating contrast sensitivity. These measures of retinal structure and function are sensitive tools for evaluating the effects of treatment in enhanced S-cone syndrome patients with cystoid macular edema. Further investigation is warranted to assess the relationships among visual performance for daily activities, visual sensitivity, and macular thickness.
Literature
1.
go back to reference Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24:127–131CrossRefPubMed Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24:127–131CrossRefPubMed
2.
go back to reference Michaelides M, Holder GE, Moore AT (2005) Inherited retinal dystrophies. In: Taylor D, Hoyt GS (eds) Pediatric ophthalmology and strabismus, 2nd edn. Elsevier Saunders, New York, pp 531–557 Michaelides M, Holder GE, Moore AT (2005) Inherited retinal dystrophies. In: Taylor D, Hoyt GS (eds) Pediatric ophthalmology and strabismus, 2nd edn. Elsevier Saunders, New York, pp 531–557
3.
go back to reference Fishman GA (2001) The enhanced S-cone syndrome. In: Fishman GA, Birch DG, Holder GE, Brigell MG (eds) Ophthalmology monograph 2-Electrophysiologic testing in disorders of the retina, optic nerve, and visual pathway, 2nd edn. The American Academy of Ophthalmology, Singapore, p 120 Fishman GA (2001) The enhanced S-cone syndrome. In: Fishman GA, Birch DG, Holder GE, Brigell MG (eds) Ophthalmology monograph 2-Electrophysiologic testing in disorders of the retina, optic nerve, and visual pathway, 2nd edn. The American Academy of Ophthalmology, Singapore, p 120
4.
go back to reference Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (Blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31:827–838PubMed Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (Blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31:827–838PubMed
5.
go back to reference Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG (1990) Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 110:124–134PubMed Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG (1990) Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 110:124–134PubMed
6.
go back to reference Iannaccone A, Fung KH, Eyestone ME, Stone EM (2009) Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol 147(2):307–312CrossRefPubMed Iannaccone A, Fung KH, Eyestone ME, Stone EM (2009) Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol 147(2):307–312CrossRefPubMed
7.
go back to reference Hajali M, Fishman GA (2009) Dorzolamide use in the management of macular cysts in a patient with enhanced S-cone syndrome. Retinal Cases Brief Rep 3(2):121–124CrossRef Hajali M, Fishman GA (2009) Dorzolamide use in the management of macular cysts in a patient with enhanced S-cone syndrome. Retinal Cases Brief Rep 3(2):121–124CrossRef
8.
go back to reference Fishman GA, Apushkin MA (2007) Continued use of dorzolamide for the treatment of cystoid macular oedema in patients with retinitis pigmentosa. Br J Ophthalmol 91(6):743–745CrossRefPubMed Fishman GA, Apushkin MA (2007) Continued use of dorzolamide for the treatment of cystoid macular oedema in patients with retinitis pigmentosa. Br J Ophthalmol 91(6):743–745CrossRefPubMed
9.
go back to reference Chung H, Hwang JU, Kim JG, Yoon YH (2006) Optical coherence tomography in the diagnosis and monitoring of cystoid macular edema in patients with retinitis pigmentosa. Retina 26(8):922–927CrossRefPubMed Chung H, Hwang JU, Kim JG, Yoon YH (2006) Optical coherence tomography in the diagnosis and monitoring of cystoid macular edema in patients with retinitis pigmentosa. Retina 26(8):922–927CrossRefPubMed
10.
go back to reference Genead MA, Fishman GA, Walia S (2010) Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked retinoschisis. Arch Ophthalmol 128(2):190–197CrossRefPubMed Genead MA, Fishman GA, Walia S (2010) Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked retinoschisis. Arch Ophthalmol 128(2):190–197CrossRefPubMed
11.
go back to reference Vujosevic S, Midena E, Pilotto E, Radin PP, Chiesa L, Cavarzeran F (2006) Diabetic macular edema: correlation between microperimetry and optical coherence tomography findings. Invest Ophthalmol Vis Sci 47(7):3044–3051CrossRefPubMed Vujosevic S, Midena E, Pilotto E, Radin PP, Chiesa L, Cavarzeran F (2006) Diabetic macular edema: correlation between microperimetry and optical coherence tomography findings. Invest Ophthalmol Vis Sci 47(7):3044–3051CrossRefPubMed
12.
go back to reference Midena E, Vujosevic S, Convento E, Manfre’ A, Cavarzeran F, Pilotto E (2007) Microperimetry and fundus autofluorescence in patients with early age-related macular degeneration. Br J Ophthalmol 91(11):1499–1503CrossRefPubMed Midena E, Vujosevic S, Convento E, Manfre’ A, Cavarzeran F, Pilotto E (2007) Microperimetry and fundus autofluorescence in patients with early age-related macular degeneration. Br J Ophthalmol 91(11):1499–1503CrossRefPubMed
13.
go back to reference Yamaike N, Kita M, Tsujikawa A, Miyamoto K, Yoshimura N (2007) Perimetric sensitivity with the microperimeter-1 and retinal thickness in patients with branch retinal vein occlusion. Am J Ophthalmol 143(2):342–344CrossRefPubMed Yamaike N, Kita M, Tsujikawa A, Miyamoto K, Yoshimura N (2007) Perimetric sensitivity with the microperimeter-1 and retinal thickness in patients with branch retinal vein occlusion. Am J Ophthalmol 143(2):342–344CrossRefPubMed
14.
go back to reference Marmor MF, Holder GE, Seeliger MW, Yamamoto S (2004) Standard for clinical electroretinography. Doc Ophthalmol 108:107–114CrossRefPubMed Marmor MF, Holder GE, Seeliger MW, Yamamoto S (2004) Standard for clinical electroretinography. Doc Ophthalmol 108:107–114CrossRefPubMed
15.
go back to reference Hee MR, Puliafito CA, Duker JS, Reichel E, Coker JG, Wilkins JR, Schuman JS, Swanson EA, Fujimoto JG (1998) Topography of diabetic macular edema with optical coherence tomography. Ophthalmology 105(2):360–370CrossRefPubMed Hee MR, Puliafito CA, Duker JS, Reichel E, Coker JG, Wilkins JR, Schuman JS, Swanson EA, Fujimoto JG (1998) Topography of diabetic macular edema with optical coherence tomography. Ophthalmology 105(2):360–370CrossRefPubMed
16.
go back to reference Mäntyjärvi M, Laitinen T (2001) Normal values for the Pelli-Robson contrast sensitivity test. J Cataract Refract Surg 27(2):261–266CrossRefPubMed Mäntyjärvi M, Laitinen T (2001) Normal values for the Pelli-Robson contrast sensitivity test. J Cataract Refract Surg 27(2):261–266CrossRefPubMed
17.
go back to reference Hayashi T, Kitahara K (2005) Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. Eur J Ophthalmol 15(5):643–646PubMed Hayashi T, Kitahara K (2005) Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. Eur J Ophthalmol 15(5):643–646PubMed
18.
go back to reference Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE (2008) Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 49(5):2082–2093CrossRefPubMed Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE (2008) Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 49(5):2082–2093CrossRefPubMed
19.
go back to reference Marmor MF (2006) A teenager with night blindness and cystic maculopathy: enhanced S cone syndrome (Goldmann–Favre syndrome). Doc Ophthalmol 113:213–215CrossRefPubMed Marmor MF (2006) A teenager with night blindness and cystic maculopathy: enhanced S cone syndrome (Goldmann–Favre syndrome). Doc Ophthalmol 113:213–215CrossRefPubMed
20.
go back to reference Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE (2010) Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology 117(6):1199–1206CrossRefPubMed Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE (2010) Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology 117(6):1199–1206CrossRefPubMed
21.
go back to reference Farber MD, Lam S, Tessler HH, Jennings TJ, Cross A, Rusin MM (1994) Reduction of macular oedema by acetazolamide in patients with chronic iridocyclitis: a randomized prospective crossover study. Br J Ophthalmol 78:4–7CrossRefPubMed Farber MD, Lam S, Tessler HH, Jennings TJ, Cross A, Rusin MM (1994) Reduction of macular oedema by acetazolamide in patients with chronic iridocyclitis: a randomized prospective crossover study. Br J Ophthalmol 78:4–7CrossRefPubMed
22.
go back to reference Ghajarnia M, Gorin MB (2007) Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol 125:571–573CrossRefPubMed Ghajarnia M, Gorin MB (2007) Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol 125:571–573CrossRefPubMed
23.
go back to reference Marmor MF (1990) Hypothesis concerning carbonic anhydrase treatment of cystoid macular edema: example with epiretinal membrane. Arch Ophthalmol 108:1524–1525PubMed Marmor MF (1990) Hypothesis concerning carbonic anhydrase treatment of cystoid macular edema: example with epiretinal membrane. Arch Ophthalmol 108:1524–1525PubMed
24.
go back to reference Marmor MF, Maack T (1982) Enhancement of retinal adhesion and subretinal fluid resorption by acetazolamide. Invest Ophthalmol Vis Sci 23:121–124PubMed Marmor MF, Maack T (1982) Enhancement of retinal adhesion and subretinal fluid resorption by acetazolamide. Invest Ophthalmol Vis Sci 23:121–124PubMed
25.
go back to reference Kawasaki K, Mukoh S, Yonemura D, Fujii S, Segawa Y (1986) Acetazolamide-induced changes of the membrane potentials of the retinal pigment epithelial cell. Doc Ophthalmol 63:375–381PubMed Kawasaki K, Mukoh S, Yonemura D, Fujii S, Segawa Y (1986) Acetazolamide-induced changes of the membrane potentials of the retinal pigment epithelial cell. Doc Ophthalmol 63:375–381PubMed
26.
go back to reference Vaclavik V, Chakarova C, Bhattacharya SS, Robson AG, Holder GE, Bird AC, Webster AR (2008) Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance. Br J Ophthalmol 92(2):299–300CrossRefPubMed Vaclavik V, Chakarova C, Bhattacharya SS, Robson AG, Holder GE, Bird AC, Webster AR (2008) Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance. Br J Ophthalmol 92(2):299–300CrossRefPubMed
27.
go back to reference Alexander KR, Barnes CS, Fishman GA (2005) Characteristics of contrast processing deficits in X-linked retinoschisis. Vision Res 45(16):2095–2107CrossRefPubMed Alexander KR, Barnes CS, Fishman GA (2005) Characteristics of contrast processing deficits in X-linked retinoschisis. Vision Res 45(16):2095–2107CrossRefPubMed
Metadata
Title
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome
Authors
Mohamed A. Genead
Gerald A. Fishman
J. Jason McAnany
Publication date
01-12-2010
Publisher
Springer-Verlag
Published in
Documenta Ophthalmologica / Issue 3/2010
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-010-9247-9

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