Recent Publications

• Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.
  Ophthalmic genetics. 2025 Aug;46(4):370-379 Epub 2025 Mar 26; Authors: Zhong A, Sumaroka A, Tsui JC, O'Neil EC, Cideciyan AV, Datz E, Bedoukian EC, Aleman TS, Scoles D

• Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.
  Translational vision science & technology. 2025 Aug 1;14(8):11; Authors: Sumaroka A, Swider M, Aleman TS, Cideciyan AV

• Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
  Translational vision science & technology. 2025 Aug 1;14(8):37; Authors: Thompson DA, Jayasundera KT, Alekseev O, Ali RR, Amato A, Arshavsky VY, Audo IS, Auricchio A, Bainbridge JWB, Banin E, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Héon E, Iannaccone A, Khan NW, Khateb S, Klassen HJ, Leroy BP, Marangoni D, Michaelides M, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Sahel JA, Sieving PA, Strettoi E, Strong CR, Wubben TJ, Yang P, Zacks DN, Monaciano Consortium

• Choroidal evaluation of FTLD-Tau and biomarker-determined Alzheimer's disease.
  Scientific reports. 2025 Jul 1;15(1):22290; Authors: Kim BJ, Aleman TS, Cousins KAQ, Daniel E, Smith E, Iacobucci E, Kolomeyer A, Hwang CK, McMillan CT, Van Deerlin VM, Phillips JS, Yu Y, Ying GS, Irwin DJ

• Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.
  Molecular therapy : the journal of the American Society of Gene Therapy. 2025 Jul 1; Authors: Aleman TS, Uyhazi KE, Roman AJ, Weber ML, O'Neil EC, Swider M, Sumaroka A, Maguire KH, Aleman EM, Santos AJ, Kim RJ, Parchinski KM, Billek A, Fradin M, Chung W, Margaritis P, Sun J, Scoles DH, Wu V, Garafalo AV, Jayagopal A, Yerxa B, Tuller S, Maguire AM, Bennett J, Cideciyan AV

• Intrafamilial Variability of IMPG1-Associated Vitelliform Dystrophy.
  Retinal cases & brief reports. 2025 Apr 25; Authors: Chan L, Adams M, Aleman TS, Bloom SM

• 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

• 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

• 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

• 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