Recent Publications

• Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
  NPJ genomic medicine. 2025 Apr 17;10(1):32; Authors: Schmidt RE, Pohodich AE, Birch D, Jones K, Lam BL, Jung EH, Jain N, Georgiou M, Mahroo OA, Webster AR, Michaelides M, Bakall B, Iannaccone A, Vincent A, Parameswarappa DC, Heon E, Scholl HPN, Janeschitz-Kriegl L, Traboulsi EI, Zein W, Brooks BP, Cukras C, Hufnagel R, Aleman TS, Sylla MM, Tsang SH, Alabek M, Sahel J, Gorin MB, van Genderen MM, Stingl K, Reith M, Kohl S, Amaral RAS, Sallum JMF, Vincent AL, Hull S, Duncan JL, Hanson JVM, Tedeus M, Maggi J, Graf U, Koller S, Berger W, Gerth-Kahlert C, Marra M, Everett LA, Yang P, Pennesi ME

• Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.
  Ophthalmic genetics. 2025 Mar 26;:1-10; Authors: Zhong A, Sumaroka A, Tsui JC, O'Neil EC, Cideciyan AV, Datz E, Bedoukian EC, Aleman TS, Scoles D

• Gene therapy for young children with congenital blindness.
  Lancet (London, England). 2025 Feb 22;405(10479):601-603; Authors: Cideciyan AV, Aleman TS

• Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
  The British journal of ophthalmology. 2025 Jan 28;109(2):286-292; 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

• Retinal Sensitivity in Comparison to Cone Density in Choroideremia.
  Investigative ophthalmology & visual science. 2024 Dec 2;65(14):6; Authors: Wynne N, Jiang YY, Aleman TS, Morgan JIW

• Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
  Investigative ophthalmology & visual science. 2024 Dec 2;65(14):30; Authors: Aleman TS, Roman AJ, Uyhazi KE, Jiang YY, Bedoukian EC, Sumaroka A, Wu V, Swider M, Viarbitskaya I, Russell RC, Shagena EO, Santos AJ, Serrano LW, Parchinski KM, Kim RJ, Weber ML, Garafalo AV, Thompson DA, Maguire AM, Bennett J, Scoles DH, O'Neil EC, Morgan JIW, Cideciyan AV

• Erratum: Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
  iScience. 2024 Nov 15;27(11):111048 Epub 2024 Oct 28; Authors: Jacobson SG, Cideciyan AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE

• Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
  International journal of molecular sciences. 2024 Oct 2;25(19); Authors: Cideciyan AV, Roman AJ, Warner RL, Sumaroka A, Wu V, Jiang YY, Swider M, Garafalo AV, Viarbitskaya I, Russell RC, Kohl S, Wissinger B, Ripamonti C, Barbur JL, Bach M, Carroll J, Morgan JIW, 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

• 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

• 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

• 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