The following references are peer-reviewed journal publications for which data was collected using DiagnosysFST®. The papers are listed in reverse chronological order. You may suggest adding a paper to this list using the form below.
2024
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group. Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study. Transl Vis Sci Technol. 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. PMID: 39382872; PMCID: PMC11469320.
Amato A, Tschetter W, Everett L, Bailey ST, Lauer AK, Yang P, Pennesi ME. Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl. Doc Ophthalmol. 2024 Oct;149(2):63-75. doi: 10.1007/s10633-024-09987-6. Epub 2024 Aug 14. PMID: 39141279.
Yang P, Pardon LP, Ho AC, Lauer AK, Yoon D, Boye SE, Boye SL, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Swider M, Viarbitskaya I, Aleman TS, Pennesi ME, Kay CN, Fujita KP, Cideciyan AV. Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study. Lancet. 2024 Sep 7;404(10456):962-970. doi: 10.1016/S0140-6736(24)01447-8. PMID: 39244273.
Melillo P, Testa F, Di Iorio V, Karali M, Citro A, Della Corte M, Rossi S, Banfi S, Simonelli F. Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice. Ophthalmol Retina. 2024 Jul;8(7):688-698. doi: 10.1016/j.oret.2024.01.021. Epub 2024 Feb 1. PMID: 38295874.
Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Gene Editing for CEP290-Associated Retinal Degeneration. N Engl J Med. 2024 Jun 6;390(21):1972-1984. doi: 10.1056/NEJMoa2309915. Epub 2024 May 6. PMID: 38709228; PMCID: PMC11389875.
Parekh B, Duncan JL, Samarakoon L, Melia M, Abalem MF, Andrews CA, Audo I, Ayala AR, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Huckfeldt RM, Lacy GD, Malbin B, Michaelides M, Musch DC, Peck-Dimit N, Stingl K, Weng CY, Zmejkoski AZ, Jayasundera KT; Foundation Fighting Blindness Clinical Consortium Investigator Group. Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):5. doi: 10.1167/iovs.65.6.5. PMID: 38833260; PMCID: PMC11156206.
Ku CA, Igelman AD, Huang SJ, Bailey ST, Lauer AK, Duncan JL, Weleber RG, Yang P, Pennesi ME. Perimacular Atrophy Following Voretigene Neparvovec-Rzyl Treatment in the Setting of Previous Contralateral Eye Treatment With a Different Viral Vector. Transl Vis Sci Technol. 2024 Jun 3;13(6):11. doi: 10.1167/tvst.13.6.11. PMID: 38888288; PMCID: PMC11186569.
Yamamoto M, Matsuyama T, Maeda T, Takagi S, Motozawa N, Sakai D, Hirami Y, Maeda A, Kurimoto Y, Takahashi M, Mandai M. Detailed Evaluation of Chromatic Pupillometry and Full-Field Stimulus Testing to Assess Ultralow Vision in Retinitis Pigmentosa. Ophthalmol Sci. 2023 May 8;3(4):100328. doi: 10.1016/j.xops.2023.100328. PMID: 37920419; PMCID: PMC10618823.
Reith M, Stingl K, Kühlewein L, Kempf M, Stingl K, Langrova H. Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil. Transl Vis Sci Technol. 2024 Apr 2;13(4):23. doi: 10.1167/tvst.13.4.23. PMID: 38630470; PMCID: PMC11033600.
Pierce EA, Ashimatey BS, Jayasundera T, Hoyng C, Lam BL, Lorenz B, Kim K, Rashid A, Myers R, Pennesi ME. Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration. Ophthalmol Sci. 2024 Feb 7;4(5):100483. doi: 10.1016/j.xops.2024.100483. PMID: 38881603; PMCID: PMC11179419.
Sakai D, Maeda T, Yamamoto M, Yokota S, Maeda A, Hirami Y, Nakamura M, Kurimoto Y, Mandai M. Relationship between residual visual field and full-field stimulus testing in patients with late-stage retinal degenerative diseases. Sci Rep. 2024 Feb 2;14(1):2793. doi: 10.1038/s41598-024-53474-6. PMID: 38307956; PMCID: PMC10837419.
Lorenz B, Künzel SH, Preising MN, Scholz JP, Chang P, Holz FG, Herrmann P. Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting. Ophthalmology. 2024 Feb;131(2):161-178. doi: 10.1016/j.ophtha.2023.09.006. Epub 2023 Sep 12. Erratum in: Ophthalmology. 2024 Apr 11:S0161-6420(24)00160-X. doi: 10.1016/j.ophtha.2024.02.021. PMID: 37704110.
Jolly JK, Grigg JR, McKendrick AM, Fujinami K, Cideciyan AV, Thompson DA, Matsumoto C, Asaoka R, Johnson C, Dul MW, Artes PH, Robson AG. ISCEV and IPS guideline for the full-field stimulus test (FST). Doc Ophthalmol. 2024 Feb;148(1):3-14. doi: 10.1007/s10633-023-09962-7. Epub 2024 Jan 18. PMID: 38238632; PMCID: PMC10879267.
Dormegny L, Studer F, Sauer A, Ballonzoli L, Speeg-Schatz C, Bourcier T, Dollfus H, Gaucher D. Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy? Heliyon. 2024 Jan 26;10(3):e25154. doi: 10.1016/j.heliyon.2024.e25154. PMID: 38322949; PMCID: PMC10844059.
Shi LF, Hall AJ, Thompson DA. Full-field stimulus threshold testing: a scoping review of current practice. Eye (Lond). 2024 Jan;38(1):33-53. doi: 10.1038/s41433-023-02636-3. Epub 2023 Jul 13. PMID: 37443335; PMCID: PMC10764876.
2023
Lisbjerg K, Bertelsen M, Grønskov K, Kessel L. Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study. Ophthalmic Genet. 2023 Oct;44(5):456-464. doi: 10.1080/13816810.2023.2219732. Epub 2023 Jun 9. PMID: 37293790.
Kelbsch C, Kempf M, Jung R, Kortüm F, Reith M, Kuehlewein L, Kohl S, Strasser T, Peters T, Wilhelm H, Wilhelm B, Stingl K, Stingl K. Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):18. doi: 10.1167/iovs.64.11.18. PMID: 37578425; PMCID: PMC10431211.
Cideciyan AV, Jacobson SG, Ho AC, Swider M, Sumaroka A, Roman AJ, Wu V, Russell RC, Viarbitskaya I, Garafalo AV, Schwartz MR, Girach A. Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes. Am J Ophthalmol Case Rep. 2023 Jun 20;32:101873. doi: 10.1016/j.ajoc.2023.101873. PMID: 37388818; PMCID: PMC10302566.
Ku CA, Igelman AD, Huang SJ, Vasconcelos H, da Palma MM, Bailey ST, Lauer AK, Weleber RG, Yang P, Pennesi ME. Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl. Transl Vis Sci Technol. 2023 Apr 3;12(4):17. doi: 10.1167/tvst.12.4.17. PMID: 37058101; PMCID: PMC10117223.
Rabin J, Poole E, Price W, Kaur G, Hall K, Sailors V, Andrews B, Somphruek R. A new method to quantify the human visual threshold from melanopsin sensitive ganglion cells. Front Cell Neurosci. 2023 Mar 23;17:1132230. doi: 10.3389/fncel.2023.1132230. PMID: 37032840; PMCID: PMC10078961.
Jolly JK, Nanda A, Buckley TMW, Pfau M, Bridge H, MacLaren RE. Assessment of Scotopic Function in Rod-Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment. Transl Vis Sci Technol. 2023 Feb 1;12(2):10. doi: 10.1167/tvst.12.2.10. PMID: 36749581; PMCID: PMC9919682.
Ngo WK, Jenny LA, Kim AH, Kolesnikova M, Greenstein VC, Tsang SH. Correlations of Full-Field Stimulus Threshold With Functional and Anatomical Outcome Measurements in Advanced Retinitis Pigmentosa. Am J Ophthalmol. 2023 Jan;245:155-163. doi: 10.1016/j.ajo.2022.07.010. Epub 2022 Jul 20. PMID: 35870488; PMCID: PMC11149455.
2022
Li H, Zou X, Han XX, Sui RF. Full-field stimulus threshold testing for evaluation of the retinal function in patients with inherited retinal dystrophy. Zhonghua Yan Ke Za Zhi. 2022 Dec 11;58(12):1039-1044. Chinese. doi: 10.3760/cma.j.cn112142-20220417-00184. PMID: 36480885.
Kwak JJ, Kim HR, Byeon SH. Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa. Yonsei Med J. 2022 Jul;63(7):701-705. doi: 10.3349/ymj.2022.63.7.701. PMID: 35748082; PMCID: PMC9226827.
Roman AJ, Cideciyan AV, Wu V, Mascio AA, Krishnan AK, Garafalo AV, Jacobson SG. Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. BMC Ophthalmol. 2022 Jun 14;22(1):266. doi: 10.1186/s12886-022-02475-y. PMID: 35701753; PMCID: PMC9195222.
Smirnov VM, Wilmet B, Nassisi M, Condroyer C, Antonio A, Andrieu C, Devisme C, Sancho S, Sahel JA, Zeitz C, Audo I. Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy. Int J Mol Sci. 2022 Jun 13;23(12):6590. doi: 10.3390/ijms23126590. PMID: 35743034; PMCID: PMC9223508.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K. Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec. Br J Ophthalmol. 2022 Jun;106(6):831-838. doi: 10.1136/bjophthalmol-2020-318286. Epub 2021 Jan 20. PMID: 33472769; PMCID: PMC9132865.
Jalil A, Ivanova T, Moussa G, Parry NRA, Black GCM. Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy. Eye (Lond). 2023 Jun;37(9):1874-1877. doi: 10.1038/s41433-022-02262-5. Epub 2022 Sep 26. PMID: 36163489; PMCID: PMC10275908.
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG. Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis. Graefes Arch Clin Exp Ophthalmol. 2022 May;260(5):1543-1550. doi: 10.1007/s00417-021-05508-2. Epub 2022 Jan 10. PMID: 35001204; PMCID: PMC9010358.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022 May;43(5):613-624. doi: 10.1002/humu.24365. Epub 2022 Mar 21. PMID: 35266249; PMCID: PMC9018588.
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. Nat Med. 2022 May;28(5):1014-1021. doi: 10.1038/s41591-022-01755-w. Epub 2022 Apr 4. PMID: 35379979; PMCID: PMC9117145.
Hyde RA, Kratunova E, Park JC, McAnany JJ. Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations. Ophthalmic Genet. 2022 Apr;43(2):268-276. doi: 10.1080/13816810.2021.2002916. Epub 2021 Dec 7. PMID: 34875963; PMCID: PMC9081144.
Sengillo JD, Gregori NZ, Sisk RA, Weng CY, Berrocal AM, Davis JL, Mendoza-Santiesteban CE, Zheng DD, Feuer WJ, Lam BL. Visual Acuity, Retinal Morphology, and Patients’ Perceptions after Voretigene Neparovec-rzyl Therapy for RPE65-Associated Retinal Disease. Ophthalmol Retina. 2022 Apr;6(4):273-283. doi: 10.1016/j.oret.2021.11.005. Epub 2021 Dec 9. PMID: 34896323.
Birch DG, Samarakoon L, Melia M, Duncan JL, Ayala AR, Audo I, Cheetham JK, Durham TA, Iannaccone A, Pennesi ME, Stingl K; Foundation Fighting Blindness Consortium Investigator Group. The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):17. doi: 10.1167/iovs.63.3.17. PMID: 35293952; PMCID: PMC8944389.
Cideciyan AV, Jacobson SG, Ho AC, Krishnan AK, Roman AJ, Garafalo AV, Wu V, Swider M, Sumaroka A, Van Cauwenbergh C, Russell SR, Drack AV, Leroy BP, Schwartz MR, Girach A. Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial. Ophthalmol Sci. 2022 Mar 2;2(2):100133. doi: 10.1016/j.xops.2022.100133. PMID: 36249682; PMCID: PMC9562351.
Roman AJ, Cideciyan AV, Wu V, Garafalo AV, Jacobson SG. Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease. Prog Retin Eye Res. 2022 Mar;87:101000. doi: 10.1016/j.preteyeres.2021.101000. Epub 2021 Aug 28. PMID: 34464742.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF. CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials. Am J Ophthalmol. 2022 Feb;234:37-48. doi: 10.1016/j.ajo.2021.07.021. Epub 2021 Jul 25. PMID: 34320374.
William A, Dias Blak M, Eshref A, Gekeler F, Schatz A, Gekeler K. Chromatic Full-Field Stimulus Thresholds in Patients with Treatment-Naive Age-Related Macular Degeneration. Clin Ophthalmol. 2022 Jan 29;16:223-229. doi: 10.2147/OPTH.S346291. PMID: 35125864; PMCID: PMC8809673.
O’Connor K, O’Neil EC, Aleman TS. Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101260. doi: 10.1016/j.ajoc.2022.101260. PMID: 35128149; PMCID: PMC8802877.
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A. Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis. Ophthalmol Retina. 2022 Jan;6(1):58-64. doi: 10.1016/j.oret.2021.03.016. Epub 2021 Apr 8. PMID: 33838313; PMCID: PMC8497635.
Rajkumar Nallour Raveendran, Jeff Farmer, Ronald A Schuchard; Assessment of retinal rods and cones function using mesopic full-field stimulus threshold – a preliminary report. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4063 – F0027. https://iovs.arvojournals.org/article.aspx?articleid=2781888
2021
Maguire AM, Russell S, Chung DC, Yu ZF, Tillman A, Drack AV, Simonelli F, Leroy BP, Reape KZ, High KA, Bennett J. Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years. Ophthalmology. 2021 Oct;128(10):1460-1468. doi: 10.1016/j.ophtha.2021.03.031. Epub 2021 Mar 30. PMID: 33798654.
Sahel JA, Grieve K, Pagot C, Authié C, Mohand-Said S, Paques M, Audo I, Becker K, Chaumet-Riffaud AE, Azoulay L, Gutman E, Léveillard T, Zeitz C, Picaud S, Dalkara D, Marazova K. Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision. Am J Ophthalmol. 2021 Oct;230:12-47. doi: 10.1016/j.ajo.2021.04.013. Epub 2021 May 14. PMID: 34000280; PMCID: PMC8682761.
Testa F, Melillo P, Della Corte M, Di Iorio V, Brunetti-Pierri R, Citro A, Ferrara M, Karali M, Annibale R, Banfi S, Rossi S, Simonelli F. Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients. Transl Vis Sci Technol. 2021 Aug 12;10(10):11. doi: 10.1167/tvst.10.10.11. PMID: 34554209; PMCID: PMC8475277.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. PMID: 33528094; PMCID: PMC8248330.
Leroy BP, Birch DG, Duncan JL, Lam BL, Koenekoop RK, Porto FBO, Russell SR, Girach A. LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. Retina. 2021 May 1;41(5):898-907. doi: 10.1097/IAE.0000000000003133. PMID: 33595255; PMCID: PMC8078118.
Aleman TS, Miller AJ, Maguire KH, Aleman EM, Serrano LW, O’Connor KB, Bedoukian EC, Leroy BP, Maguire AM, Bennett J. A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy. Clin Ophthalmol. 2021 Mar 2;15:939-952. doi: 10.2147/OPTH.S292527. PMID: 33688162; PMCID: PMC7936670.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. PMID: 33673512; PMCID: PMC7956818.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV. Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function. Int J Mol Sci. 2021 Feb 18;22(4):2031. doi: 10.3390/ijms22042031. PMID: 33670772; PMCID: PMC7922686.
Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS. Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. Mol Ther. 2021 Feb 3;29(2):442-463. doi: 10.1016/j.ymthe.2020.11.029. Epub 2020 Dec 3. PMID: 33278565; PMCID: PMC7854308.
Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group. Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network. Ophthalmic Res. 2021;64(5):740-753. doi: 10.1159/000515688. Epub 2021 Mar 8. PMID: 33684911.
Cristy Ann Ku, Mariana Matioli da Palma, Austin Igelman, Andreas Lauer, Steven Bailey, Jacque L Duncan, Paul Yang, Mark E Pennesi; Treatment outcomes in 11 patients with RPE65-retinopathy receiving voritegene neparvovec-rzyl. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3320. https://iovs.arvojournals.org/article.aspx?articleid=2776169
Leroy BP, Russell SR, Bennett J, et al 89 Five-year update for the Phase III voretigene neparvovec study in biallelic RPE65 mutation–associated inherited retinal disease Archives of Disease in Childhood 2021;106:A37-A38. https://adc.bmj.com/content/106/Suppl_2/A37.3
Jean Bennett, Stephen R Russell, Katherine A High, Arlene V Drack, Zi-Fan Yu, Daniel C Chung, Kathy Reape, Albert M Maguire; Five-Year Post-Injection Results of the Phase 3 Trial of Voretigene Neparvovec-rzyl in Biallelic RPE65 Mutation-Associated Inherited Retinal Disease. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3540. https://iovs.arvojournals.org/article.aspx?articleid=2776037
2020
Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL 3rd, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 Oct 8;9(11):9. doi: 10.1167/tvst.9.11.9. PMID: 33133772; PMCID: PMC7552938.
McAnany JJ, Park JC, Fishman GA, Collison FT. Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis. Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):53. doi: 10.1167/iovs.61.6.53. PMID: 32579680; PMCID: PMC7416904.
Ciulla TA, Hussain RM, Berrocal AM, Nagiel A. Voretigene neparvovec-rzyl for treatment of RPE65-mediated inherited retinal diseases: a model for ocular gene therapy development. Expert Opin Biol Ther. 2020 Jun;20(6):565-578. doi: 10.1080/14712598.2020.1740676. Epub 2020 Mar 25. PMID: 32149547.
Magliyah M, Saifaldein AA, Schatz P. Late presentation of RPE65 retinopathy in three siblings. Doc Ophthalmol. 2020 Jun;140(3):289-297. doi: 10.1007/s10633-019-09745-z. Epub 2020 Jan 10. PMID: 31925606; PMCID: PMC7205780.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS. Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231; PMCID: PMC7405811.
Krishnan AK, Jacobson SG, Roman AJ, Iyer BS, Garafalo AV, Héon E, Cideciyan AV. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Res. 2020 Mar;168:53-63. doi: 10.1016/j.visres.2020.01.006. Epub 2020 Feb 20. PMID: 32088401; PMCID: PMC7068155.
Wang X, Yu C, Tzekov RT, Zhu Y, Li W. The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis. Orphanet J Rare Dis. 2020 Feb 14;15(1):49. doi: 10.1186/s13023-020-1304-1. PMID: 32059734; PMCID: PMC7023818.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. PMID: 32012938; PMCID: PMC7038140.
2019
Stingl KT, Kuehlewein L, Weisschuh N, Biskup S, Cremers FPM, Khan MI, Kelbsch C, Peters T, Ueffing M, Wilhelm B, Zrenner E, Stingl K. Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations. Transl Vis Sci Technol. 2019 Dec 20;8(6):45. doi: 10.1167/tvst.8.6.45. PMID: 31879567; PMCID: PMC6927735.
Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, Marshall KA, McCague S, Reichert H, Davis M, Simonelli F, Leroy BP, Wright JF, High KA, Bennett J. Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials. Ophthalmology. 2019 Sep;126(9):1273-1285. doi: 10.1016/j.ophtha.2019.06.017. Epub 2019 Jun 22. PMID: 31443789.
Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV. Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. PMID: 31212307; PMCID: PMC6586080.
Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17. PMID: 30559420.
Daniel C Chung, Kelly Lee, Kathleen Z Reape, Katherine A High, Sue Lacey, Daniel Viriato; Long-term Effect of Voretigene Neparvovec on the Full-Field Light Sensitivity Threshold Test of Patients with RPE65 Mutation-Associated Inherited Retinal Dystrophy – Post Hoc Analysis of Phase I trial data. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3398. https://iovs.arvojournals.org/article.aspx?articleid=2746943
2018
Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):5225-5236. doi: 10.1167/iovs.18-24708. PMID: 30372751.
Dimopoulos IS, Freund PR, Knowles JA, MacDonald IM. THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. Retina. 2018 Sep;38(9):1731-1742. doi: 10.1097/IAE.0000000000001764. PMID: 28800019.
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17. PMID: 29559409.
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. PMID: 29522070; PMCID: PMC5876850.
Edwards TL, Cottriall CL, Xue K, Simunovic MP, Ramsden JD, Zrenner E, MacLaren RE. Assessment of the Electronic Retinal Implant Alpha AMS in Restoring Vision to Blind Patients with End-Stage Retinitis Pigmentosa. Ophthalmology. 2018 Mar;125(3):432-443. doi: 10.1016/j.ophtha.2017.09.019. Epub 2017 Oct 27. PMID: 29110946; PMCID: PMC5818267.
Martin Klein, Paulina Mejia, Daniel Galles, David G Birch; Full-Field Stimulus Thresholds (FSTs) in Subjects with Inherited Retinal Degenerations (IRDs) – a 10 Years Review. Invest. Ophthalmol. Vis. Sci. 2018;59(9):54. https://iovs.arvojournals.org/article.aspx?articleid=2693569
2017
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Erratum in: Lancet. 2017 Aug 26;390(10097):848. doi: 10.1016/S0140-6736(17)32235-3. PMID: 28712537; PMCID: PMC5726391.
Witton C, Talcott JB, Henning GB. Psychophysical measurements in children: challenges, pitfalls, and considerations. PeerJ. 2017 May 11;5:e3231. doi: 10.7717/peerj.3231. PMID: 28507816; PMCID: PMC5429739.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choi W, Sheplock R, Swider M, Kosyk MS, Schwartz SB, Stone EM, Fishman GA. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2609-2622. doi: 10.1167/iovs.17-21560. PMID: 28510626.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. Am J Ophthalmol. 2017 May;177:44-57. doi: 10.1016/j.ajo.2017.02.003. Epub 2017 Feb 16. PMID: 28212877.
Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. PMID: 28159970.
Jason Charng, Samuel G Jacobson, Elise Heon, Alejandro J Roman, David B. McGuigan, Rebecca Sheplock, Mychajlo S. Kosyk, Artur V Cideciyan; Human Melanopic Pupillary Responses Isolated from Outer Retinal Photoreceptor Input in LCA Patients with Severe Vision Loss. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4135. https://iovs.arvojournals.org/article.aspx?articleid=2641282
Xiao Ni, Michael Wald, Marie Burstedt, Jane Green, James Whelan, Zhenzhong Su, Jean-Yves Deslandes, Cynthia L Grosskreutz, Kalliopi Stasi, Karen Holopigian; Full-field stimulus threshold dark-adaptation kinetics over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3249. https://iovs.arvojournals.org/article.aspx?articleid=2638042
2016
Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM. Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet. 2016 Aug 13;388(10045):661-72. doi: 10.1016/S0140-6736(16)30371-3. Epub 2016 Jun 30. PMID: 27375040; PMCID: PMC5351775.
Ghazi NG, Abboud EB, Nowilaty SR, Alkuraya H, Alhommadi A, Cai H, Hou R, Deng WT, Boye SL, Almaghamsi A, Al Saikhan F, Al-Dhibi H, Birch D, Chung C, Colak D, LaVail MM, Vollrath D, Erger K, Wang W, Conlon T, Zhang K, Hauswirth W, Alkuraya FS. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial. Hum Genet. 2016 Mar;135(3):327-43. doi: 10.1007/s00439-016-1637-y. Epub 2016 Jan 29. PMID: 26825853.
2015
Collison FT, Park JC, Fishman GA, McAnany JJ, Stone EM. Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients. Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7130-6. doi: 10.1167/iovs.15-17467. PMID: 26529047; PMCID: PMC4634626.
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. PLoS One. 2015 Apr 24;10(4):e0125700. doi: 10.1371/journal.pone.0125700. PMID: 25909963; PMCID: PMC4409040.
Andre Messias, Katharina Messias, Rafael de Montier Barroso, Amanda Marega, Rodrigo Jorge; Full-field Stimulus Threshold (FST) Changes After Intravitreal Ranibizumab and Single or Multiple Spot Panphotocoagulation in Proliferative Diabetic Retinopathy. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1776. https://iovs.arvojournals.org/article.aspx?articleid=2331503
2014
Collison FT, Fishman GA, McAnany JJ, Zernant J, Allikmets R. Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli. Retina. 2014 Sep;34(9):1888-95. doi: 10.1097/IAE.0000000000000144. PMID: 24695063; PMCID: PMC4145077.
Bittner AK, Gould JM, Rosenfarb A, Rozanski C, Dagnelie G. A pilot study of an acupuncture protocol to improve visual function in retinitis pigmentosa patients. Clin Exp Optom. 2014 May;97(3):240-7. doi: 10.1111/cxo.12117. Epub 2013 Oct 29. PMID: 24773463; PMCID: PMC4018735.
Andre Messias, Katharina Messias, Rafael Saran Arcieri, Fabiano Sakamoto, Vinicius M Castro, Rodrigo Jorge; Chromatic Full-field Stimulus Threshold (FST) in Proliferative Diabetic Retinopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):335. https://iovs.arvojournals.org/article.aspx?articleid=2268766
2013
Messias K, Jägle H, Saran R, Ruppert AD, Siqueira R, Jorge R, Messias A. Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes. Doc Ophthalmol. 2013 Oct;127(2):123-9. doi: 10.1007/s10633-013-9393-y. Epub 2013 Jun 4. PMID: 23733195.
Ahuja AK, Yeoh J, Dorn JD, Caspi A, Wuyyuru V, McMahon MJ, Humayun MS, Greenberg RJ, Dacruz L. Factors Affecting Perceptual Threshold in Argus II Retinal Prosthesis Subjects. Transl Vis Sci Technol. 2013 Apr;2(4):1. doi: 10.1167/tvst.2.4.1. Epub 2013 Apr 12. PMID: 24049718; PMCID: PMC3763895.
André Ruppert, Sarah Godoi, Nivaldo Sena, Katharina Messias, Rafael Arcieri, Andre Messias; Effect of Pupil Dilatation on Normative Data for Full-Field Stimulus Threshold (FST) for White, Blue and Red Stimulus Colors. Invest. Ophthalmol. Vis. Sci. 2013;54(15):685. https://iovs.arvojournals.org/article.aspx?articleid=2151480
Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum Mol Genet. 2013 Jan 1;22(1):168-83. doi: 10.1093/hmg/dds421. Epub 2012 Oct 3. PMID: 23035049; PMCID: PMC3606011.
2012
Lorenz B, Strohmayr E, Zahn S, Friedburg C, Kramer M, Preising M, Stieger K. Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency. Invest Ophthalmol Vis Sci. 2012 Aug 17;53(9):5641-52. doi: 10.1167/iovs.12-9974. PMID: 22807296.
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012 Jan;130(1):9-24. doi: 10.1001/archophthalmol.2011.298. Epub 2011 Sep 12. PMID: 21911650; PMCID: PMC3600816.
2011
Park JC, Moura AL, Raza AS, Rhee DW, Kardon RH, Hood DC. Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil response. Invest Ophthalmol Vis Sci. 2011 Aug 22;52(9):6624-35. doi: 10.1167/iovs.11-7586. PMID: 21743008; PMCID: PMC3175993.
Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet. 2011 Apr 1;20(7):1411-23. doi: 10.1093/hmg/ddr022. Epub 2011 Jan 18. PMID: 21245082; PMCID: PMC3049361.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127. PMID: 20702822.
2010
Banin E, Bandah-Rozenfeld D, Obolensky A, Cideciyan AV, Aleman TS, Marks-Ohana D, Sela M, Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Hemo I, Sharon D. Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. Hum Gene Ther. 2010 Dec;21(12):1749-57. doi: 10.1089/hum.2010.047. Epub 2010 Nov 3. PMID: 20604683.
G. Dagnelie, A. K. Ahuja, M. J. McMahon, A. V. Cideciyan, K. G. Locke, Argus II Study Group, R. J. Greenberg; Dark-Adapted Flash Sensitivity Remains Stable Up to 2 Years After ArgusTM II Implantation. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3029. https://iovs.arvojournals.org/article.aspx?articleid=2371671
2009
Klein M, Birch DG. Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST). Doc Ophthalmol. 2009 Dec;119(3):217-24. doi: 10.1007/s10633-009-9204-7. Epub 2009 Nov 3. PMID: 19885692; PMCID: PMC5319829.
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Epub 2009 Oct 23. Erratum in: Lancet. 2010 Jan 2;375(9708):30. PMID: 19854499; PMCID: PMC4492302.
Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2009 May;50(5):2368-75. doi: 10.1167/iovs.08-2696. Epub 2008 Dec 30. PMID: 19117922; PMCID: PMC2731629.
2008
Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther. 2008 Oct;19(10):979-90. doi: 10.1089/hum.2008.107. PMID: 18774912; PMCID: PMC2940541.
Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7. doi: 10.1073/pnas.0807027105. Epub 2008 Sep 22. PMID: 18809924; PMCID: PMC2567501.
2007
Roman AJ, Cideciyan AV, Aleman TS, Jacobson SG. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol Meas. 2007 Aug;28(8):N51-6. doi: 10.1088/0967-3334/28/8/N02. Epub 2007 Jul 6. PMID: 17664667.