Recent Publications

• Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.
  Ophthalmic genetics. 2024 Oct;45(5):506-515 Epub 2024 Jul 2; Authors: Rao NT, Sumaroka A, Santos AJ, Parchinski KM, Weber ML, Maguire AM, Cideciyan AV, Aleman TS

• Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.
  Ophthalmic genetics. 2024 Oct;45(5):522-531 Epub 2024 Jul 2; Authors: Law C, Pattathil N, Simpson H, Ward MJ, Lampen S, Kamath B, Aleman TS

• Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations.
  Cell death & disease. 2024 Sep 18;15(9):682; Authors: Sudharsan R, Kwok J, Swider M, Sumaroka A, Aguirre GD, Cideciyan AV, Beltran WA

• 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 (London, England). 2024 Sep 7;404(10456):962-970; Authors: 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

• Corrigendum to "Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT" [Vis. Res. 218 (2024) 108379].
  Vision research. 2024 Aug;221:108437 Epub 2024 Jun 1; Authors: Wu V, Swider M, Sumaroka A, Dufour VL, Vance JE, Aleman TS, Aguirre GD, Beltran WA, Cideciyan AV

• Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration.
  Translational vision science & technology. 2024 Aug 1;13(8):17; Authors: Cerolini S, Bennett J, Leroy BP, Durham T, Coates C, Pletcher MT, Lacey S, Aleman TS

• Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
  The British journal of ophthalmology. 2024 Jul 30; Authors: Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME

• Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness.
  American journal of ophthalmology case reports. 2024 Dec;36:102098 Epub 2024 Jul 5; Authors: Cohen DC, Sumaroka A, Paulos JA, Mitchell TC, Santos AJ, O'Neil EC, Bedoukian EC, Adamus G, Cideciyan AV, Aleman TS

• Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.
  Case reports in ophthalmology. 2024 Jan-Dec;15(1):497-506 Epub 2024 Jun 12; Authors: Tsui JC, Aleman TS, Tapino PJ, Kim BJ

• Gene Editing for CEP290-Associated Retinal Degeneration.
  The New England journal of medicine. 2024 Jun 6;390(21):1972-1984 Epub 2024 May 6; Authors: 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

• Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.
  Vision research. 2024 May;218:108379 Epub 2024 Mar 8; Authors: Wu V, Swider M, Sumaroka A, Dufour VL, Vance JE, Aleman TS, Aguirre GD, Beltran WA, Cideciyan AV

• FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.
  Retina (Philadelphia, Pa.). 2024 Apr 1;44(4):659-668; Authors: Wynne N, Jiang YY, Aleman TS, Morgan JIW

• Stimulus type and duration affect magnitude and evolution of flicker-induced hyperemia measured by laser speckle flowgraphy at the optic disc and peripapillary vessels.
  Scientific reports. 2024 Mar 20;14(1):6659; Authors: Aung MH, Aleman TS, Garcia AS, McGeehan B, Ying GS, Avery RA

• ISCEV and IPS guideline for the full-field stimulus test (FST).
  Documenta ophthalmologica. Advances in ophthalmology. 2024 Feb;148(1):3-14 Epub 2024 Jan 18; Authors: Jolly JK, Grigg JR, McKendrick AM, Fujinami K, Cideciyan AV, Thompson DA, Matsumoto C, Asaoka R, Johnson C, Dul MW, Artes PH, Robson AG

• Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
  International journal of molecular sciences. 2024 Jan 13;25(2); Authors: Monson E, Cideciyan AV, Roman AJ, Sumaroka A, Swider M, Wu V, Viarbitskaya I, Jacobson SG, Fliesler SJ, Pittler SJ

• The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18).
  Ophthalmic research. 2024;67(1):435-447 Epub 2024 Jul 18; Authors: Strauss RW, Lang L, Ho A, Jha A, Ip M, Bernstein PS, Birch DG, Cideciyan AV, Michaelides M, Audo I, Sunness JS, Traboulsi EI, Zrenner E, Sadda SR, Janeschitz-Kriegl L, West S, Kong X, Scholl HPN, ProgStar Study Group

• Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
  Investigative ophthalmology & visual science. 2023 Dec 1;64(15):33; Authors: Li RTH, Roman AJ, Sumaroka A, Stanton CM, Swider M, Garafalo AV, Heon E, Vincent A, Wright AF, Megaw R, Aleman TS, Browning AC, Dhillon B, Cideciyan AV

• OUTER RETINOPATHY AND MICROANGIOPATHY IN ACUTE MYELOGENOUS LEUKEMIA.
  Retinal cases & brief reports. 2023 Nov 1;17(6):683-689; Authors: Miller CG, Brucker AJ, Perry LM, Kim BJ, Martin ME, Frey NV, Aleman TS

• Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes.
  American journal of ophthalmology case reports. 2023 Dec;32:101873 Epub 2023 Jun 20; Authors: Cideciyan AV, Jacobson SG, Ho AC, Swider M, Sumaroka A, Roman AJ, Wu V, Russell RC, Viarbitskaya I, Garafalo AV, Schwartz MR, Girach A