ABCA4-associated Stargardt disease

SUMMARY

ABCA4-associated Stargardt disease

 


30 PUBLICATIONS ON ABCA4-ASSOCIATED STGD

226. Kong X, Ibrahim-Ahmed M, Bittencourt MG, Strauss RW, Birch DG, CIDECIYAN AV, Ervin AM, Ho A, Sunness JS, Audo IS, Michaelides M, Zrenner E, Sadda S, Ip MS, West S, Scholl HPN; SMART Study Group. Longitudinal changes in scotopic and mesopic macular function as assessed with microperimetry in patients with Stargardt disease: SMART study report no. 2. American Journal of Ophthalmology, 236:32-44, 2022. [PubMed] [DOI]

225. Schönbach EM, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, CIDECIYAN AV, Sunness JS, Zrenner E, Sadda SR, Scholl HPN. Longitudinal changes of fixation stability and location within 24 months in Stargardt disease: ProgStar Report No. 16. American Journal of Ophthalmology, 233:78-89, 2022. [PubMed] [DOI]

221. Schonbach EM , Janeschitz-Kriegl L, Strauss RW , Cattaneo MEGV, Fujinami K, Birch DG, CIDECIYAN AV, Sunness JS, Weleber RW, Ip MS, Sadda SR, Scholl HPN. The progression of Stargardt disease using volumetric hill of vision analyses over 24 months: ProgStar report no.15. American Journal of Ophthalmology, 230:123-133, 2021. [PubMed] [DOI]

209. Schönbach EM, Strauss RW, Ahmed MI, Janes JL, CIDECIYAN AV, Birch DG, Sunness JS, Zrenner E, Ip MS, Kong X, Sadda SR, Scholl HPN, for the ProgStar study group. The effect of attention on fixation stability during dynamic fixation testing in Stargardt disease. American Journal of Ophthalmology, 217:305-316, 2020. [PubMed]

208.  Schönbach EM, Strauss RW, Ibrahim MA, Janes JL, Birch DG, CIDECIYAN AV, Sunness JS, Muñoz B, Ip MS, Sadda SR, Scholl HPN, for the ProgStar study group. Faster sensitivity loss around dense scotomas than for overall macular sensitivity in Stargardt disease: ProgStar Report No. 14. American Journal of Ophthalmology, 216:219-225, 2020. [PubMed]

202. Strauss RW, Kong X, Ho A, Jha A, West S, Ip M, Bernstein PS, Birch DG, CIDECIYAN AV, Michaelides M, Sahel JA, Sunness JS, Traboulsi EI, Zrenner E, Pitetta S, Jenkins D, Hariri AH, Sadda S, Scholl HPN. Progression of Stargardt disease as determined by fundus autofluorescence over a 12-month period. ProgStar Report No. 11. JAMA Ophthalmology, 137:1134-1145, 2019. [PubMed] [Commentary: Toward a treatment trial for Stargardt disease: Putting out the fire]

190. Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, CIDECIYAN AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. British Journal of Ophthalmology, 103:390-397, 2018. [PubMed]

189. Kong X, Fujinami K, Strauss RW, Munoz B, West SK, CIDECIYAN AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual acuity change over 24 months and its association with foveal phenotype and genotype in individuals with Stargardt disease: ProgStar Study Report No. 10. JAMA Ophthalmology, 136:920-928, 2018 . [PubMed]

186. Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, CIDECIYAN AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S-V, West S, Scholl HPN. Progression of Stargardt disease as determined by fundus autofluorescence in the retrospective progression of Stargardt disease study (ProgStar Report No. 9). JAMA Ophthalmology, 135, 1232-1241, 2017. [PubMed]

183. Sears AE, Bernstein PS, CIDECIYAN AV, Hoyng C, Issa PC, Palczewski K, Rosenfeld PJ, Sadda S-V, Schraermeyer U, Sparrow JR, Washington I, Scholl HPN. Towards treatment of Stargardt disease: Workshop organized and sponsored by the Foundation Fighting Blindness. Translational Vision Science & Technology 6:6, 2017. [PubMed]

179. Schönbach EM, Wolfson Y, Strauss RW, Ibrahim MA, Kong X, Muñoz B, Birch DG, CIDECIYAN AV, Hahn G-A, Nittala M, Sunness JS, Sadda SR, West SK, Scholl HPN. Macular sensitivity measured with microperimetry in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study. Report No. 7. JAMA Ophthalmology 135:696-703, 2017. [PubMed]

178. Kong X, Strauss RW, CIDECIYAN AV, Michaelides M, Sahel JA, Munoz B, Ahmed M, Ervin AM, West SK, Cheetham JK, Scholl HPN. Visual acuity change over 12 months in the prospective progression of atrophy secondary to Stargardt disease (ProgStar) study: ProgStar Report No. 6. Ophthalmology, 124:1640-1651, 2017. [PubMed]

177. Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, MD, CIDECIYAN AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN. Incidence of atrophic lesions in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study. Report No. 5. JAMA Ophthalmology 135:687-695, 2017. [PubMed]

174. Kong X, West SK, Strauss RW, Munoz B, CIDECIYAN AV, Michaelides M, Ho A, Ahmed M, Schönbach EM, Cheetham JK, Ervin AM, Scholl HPN. Progression of visual acuity and fundus autofluorescence in recent-onset Stargardt disease: ProgStar Study Report No. 4. Ophthalmology Retina, 1:514-523, 2017.

170. Schönbach EM, Ibrahim MA, Strauss RW, Birch DG, CIDECIYAN AV, Hahn GA, Ho A, Kong X, Nasser F, Sunness JS, Zrenner E, Sadda SR, West SK, Scholl HPN, Progression of Stargardt Disease Study Group. Fixation location and stability using the MP-1 microperimeter in Stargardt disease: ProgStar Report No. 3. Ophthalmology Retina. 1:68-76, 2017.

162. Kong X, Strauss RW, Michaelides M, CIDECIYAN AV, Sahel JA, Muñoz B, West S, Scholl HP; ProgStar Study Group. Visual acuity loss and associated risk factors in the retrospective progression of Stargardt disease study (ProgStar Report No. 2). Ophthalmology 123:1887-97, 2016. [PubMed]

159. Strauss RW, Muñoz B, Jha A, Ho A, CIDECIYAN AV, Kasilian ML, Wolfson Y, Sadda S, West S, Scholl HPN, Michaelides M. Comparison of short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt macular dystrophy. American Journal of Ophthalmology 168:269-278, 2016. [PubMed]

156. Strauss RW, Ho A, Muñoz B, CIDECIYAN AV, Sahel J-A, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin A-M, West S, Scholl HPN, for the Progression of Stargardt Disease Study Group. The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: Design and baseline characteristics: ProgStar Report No. 1. Ophthalmology 123:817-828, 2016. [PubMed]

153. Matsui R, CIDECIYAN AV, Schwartz SB, Sumaroka A, Roman AJ, Swider M, Huang WC, Sheplock R, Jacobson SG. Molecular heterogeneity within the clinical diagnosis of pericentral retinal degeneration. Investigative Ophthalmology and Visual Science 56:6007-6018, 2015. [PubMed]

152. CIDECIYAN AV, Swider M, Schwartz SB, Stone EM, Jacobson SG. Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front. Investigative Ophthalmology and Visual Science 56:5946-5955, 2015. [PubMed]

149. CIDECIYAN AV, Swider M, Jacobson SG. Autofluorescence imaging with near-infrared excitation: Normalization by reflectance to reduce signal from choroidal fluorophores. Investigative Ophthalmology and Visual Science 56:3393–3406, 2015. [PubMed]

145. Zhang N, Tsybovsky Y, Kolesnikov AV, Rozanowska M, Swider M, Schwartz SB, Stone EM, Palczewska G, Maeda A, Kefalov VJ, Jacobson SG, CIDECIYAN AV, Palczewski K. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Human Molecular Genetics 24:3220-3237, 2015. [PubMed]

136. Huang WC, CIDECIYAN AV, Roman AJ, Sumaroka A, Sheplock R, Schwartz SB, Stone EM, Jacobson SG. Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. Investigative Ophthalmology & Visual Science 55:1810–1822, 2014. [PubMed]

134. Braun T, Mullins R, Wagner A, Andorf J, Bakall B, DeLuca A, Fishman GA, Lam B, Weleber R, CIDECIYAN AV, Jacobson SG, Sheffield V, Tucker B, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics, 22:5136-5145, 2013. [PubMed]

124. CIDECIYAN AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, Steinberg JD, Stone EM, Jacobson SG. Macular function in macular degenerations: Repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Investigative Ophthalmology & Visual Science 53:841–852, 2012. [PubMed]

99. CIDECIYAN AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EAM, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4 disease progression and a proposed strategy for gene therapy. Human Molecular Genetics, 18:931-941, 2009. [PubMed] [Reprint] [Free Text in PubMed Central]

92. Kitiratschky VBD, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, CIDECIYAN AV, Schaich S, Kohl S, Wissinger B. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. European Journal of Human Genetics, 16:812-819, 2008. [PubMed]

82. CIDECIYAN AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG. Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. Journal of the Optical Society of America A 24:1457-1467, 2007. [PubMed]

81. Aleman TS, CIDECIYAN AV, Windsor EAM, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG. Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Investigative Ophthalmology & Visual Science 48:1319-1329, 2007. [PubMed]

72. CIDECIYAN AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Investigative Ophthalmology & Visual Science 46:4739–4746, 2005. [PubMed]

60. CIDECIYAN AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence. Human Molecular Genetics, 13:525-534, 2004. [PubMed]


Last updated January 1, 2022