Recent Publications

• Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.
  Ophthalmic genetics. 2026 Oct;47(5):431-436 Epub 2026 Aug 26; Authors: Sherman CL, Sumaroka A, Roman AJ, Hüther A, Weber ML, Kim R, Brucker AJ, Cideciyan AV, Aleman TS

• Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1.
  JAMA ophthalmology. 2026 Sep 10; Authors: Stanton CM, Ansari G, Pfau K, Lipsky T, Halachev M, Gerasimavicius L, Drake C, Marsh JA, Hayward C, Sumaroka A, Kousal B, Lišková P, Quinodoz M, Rivolta C, Aleman TS, Cideciyan AV, Pfau M

• Evaluation of the Toxicity and Efficacy of an Adeno-Associated Viral Vector Expressing BEST1 Delivered by Subretinal Injection in a Canine Model of Human Bestrophinopathy.
  Human gene therapy. 2026 Sep;37(17-18):876-886 Epub 2026 Jul 6; Authors: Gray A, Kwok JC, Sato Y, Assenmacher CA, Choudhary M, Jayagopal A, Hua P, Ying GS, Swider M, Sumaroka A, Cideciyan AV, Gustavo AD, Beltran WA

• Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.
  Ophthalmic genetics. 2026 Aug;47(4):328-334 Epub 2026 Mar 30; Authors: Hüther A, Sherman CL, Sumaroka A, O'Neil EC, Roman AJ, Kim R, Weber ML, Garafalo AV, Cideciyan AV, Aleman TS

• PRCD-associated retinitis pigmentosa in dogs and humans.
  Experimental eye research. 2026 Aug;269:111045 Epub 2026 May 8; Authors: Dufour VL, Sato Y, Sumaroka A, Sudharsan R, Banin E, Yu Y, Ripolles-Garcia A, Kwok JC, Aleman TS, Ying GS, Sharon D, Cideciyan AV, Beltran WA, Aguirre GD

• Clinical endpoints special session, ISCEV 2025, Utrecht.
  Documenta ophthalmologica. Advances in ophthalmology. 2026 Aug;153(1):3-11 Epub 2026 May 20; Authors: Hamilton R, Birch D, Stingl K, Fujinami K, Holopigian K, Boon CJF, Moseley J, McAnany JJ, Cideciyan AV, van Genderen MM

• Inherited retinal degenerations: clinical phenotypes and emerging therapies.
  Lancet (London, England). 2026 Jul 25;408(10552):367-377 Epub 2026 Jul 6; Authors: Uyhazi KE, O'Neil EC, Aleman TS, Cideciyan AV

• Interim Results from a Multicenter Observational Safety Study of Patients Treated with Voretigene Neparvovec-Rzyl in the United States.
  Ophthalmology. 2026 Jul 22; Authors: Nagiel A, Russell SR, Lam BL, Comander JI, Aleman TS, Besirli CG, Sisk RA, Yang P, Weng CY, Chung DC, Thakre A, Savola JM, Rousso DL, VN PASS Study Group

• INTRAFAMILIAL VARIABILITY OF IMPG1 -ASSOCIATED VITELLIFORM DYSTROPHY.
  Retinal cases & brief reports. 2026 Jul 1;20(4):510-514; Authors: Chan L, Adams M, Aleman TS, Bloom SM

• Lens Opacity in ABCA4-Associated Stargardt Disease Patients in the ProgStar Study.
  Investigative ophthalmology & visual science. 2026 Jul 1;67(8):47; Authors: Ibukun F, Chan BXJ, Khan J, Wang Y, Ervin AM, Kühlewein L, Strauss RW, Aychoua N, Birch D, Cideciyan A, Singh M, Traboulsi E, Bernstein P, Michaelides M, Kong X

• Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.
  Investigative ophthalmology & visual science. 2026 Mar 2;67(3):6; Authors: Ibukun F, Strauss RW, Rustam Z, Khan MJ, Cideciyan AV, Birch DG, Ho A, Sunness JS, Audo IS, Michaelides M, Zrenner E, Traboulsi EI, Bernstein P, Sadda S, Ip MS, West S, Kong X

• Measuring Vision in Children Undergoing Retinal Gene Therapy.
  JAMA ophthalmology. 2026 Feb 1;144(2):165-166; Authors: Aleman TS, Cideciyan AV

• A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
  Retinal cases & brief reports. 2026 Jan 22; Authors: Zhang S, Avery RA, Wu V, Sumaroka A, Kim RJ, Maripuri DP, Datz E, Weber ML, Roman AJ, Tsang SH, Cideciyan AV, Aleman TS, O'Neil EC