Recent Publications

Recent Publications

Detailed phenotype and long-term follow-up of RAB28- associated cone-rod dystrophy. (NEW)

Rao NT, Sumaroka A, Santos AJ, Parchinski KM, Weber ML, Maguire AM, Cideciyan AV, Aleman TS. Ophthalmic Genet. 2024 July 2. doi: 10.1080/13816810.2024.2362204. Online ahead of print. PMID: 38956823

 

Gene editing for CEP290-associated retinal degeneration. (NEW)

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. N Engl J Med. 2024 May 6. doi: 10.1056/NEJMoa2309915. Online ahead of print. PMID: 38709228

 

Foveal phenotypes in choroideremia on adaptive optics scanning light ophthalmoscopy. (NEW)

Wynne N, Jiang YY, Aleman TS, Morgan JIW. Retina. 2024 Apr 1;44(4):659-668. doi: 10.1097/IAE.0000000000003995.PMID: 38531059

 

Stimulus type and duration affect magnitude and evolution of flicker-induced hyperemia measured by laser speckle flowgraphy at the optic disc and peripapillary vessels.

Aung MH, Aleman TS, Garcia AS, McGeehan B, Ying GS, Avery RA. Sci Rep. 2024 Mar 20;14(1):6659. doi: 10.1038/s41598-024-57263-z.PMID: 38509194 Free PMC article.

 

Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.

Wu V, Swider M, Sumaroka A, Dufour VL, Vance JE, Aleman TS, Aguirre GD, Beltran WA, Cideciyan AV. Vision Res. 2024 May;218:108379. doi: 10.1016/j.visres.2024.108379. Epub 2024 Mar 8.PMID: 38460402

 

 

Inherited retinal degeneration caused by dehydrodolichyl diphosphate synthase mutation - Effect of an ALG6 modifier variant.

Monson E, Cideciyan AV, Roman AJ, Sumaroka A, Swider M, Wu V, Viarbitskaya I, Jacobson SG, Fliesler SJ, Pittler SJ. Int J Mol Sci. 2024 Jan 13;25(2):1004. doi: 10.3390/ijms25021004.PMID: 38256083 Free PMC article.

 

ISCEV and IPS guideline for the full-field stimulus test (FST).

Jolly JK, Grigg JR, McKendrick AM, Fujinami K, Cideciyan AV, Thompson DA, Matsumoto C, Asaoka R, Johnson C, Dul MW, Artes PH, Robson AG. Doc Ophthalmol. 2024 Feb;148(1):3-14. doi: 10.1007/s10633-023-09962-7. Epub 2024 Jan 18.PMID: 38238632 Free PMC article.

 

Treatment strategy with gene editing for late-onset retinal degeneration caused by a founder variant in C1QTNF5.

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. Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):33. doi: 10.1167/iovs.64.15.33.PMID: 38133503 Free PMC article.

 

Outer retinopathy and microangiopathy in acute myelogenous leukemia.

Miller CG, Brucker AJ, Perry LM, Kim BJ, Martin ME, Frey NV, Aleman TS. Retin Cases Brief Rep. 2023 Nov 1;17(6):683-689. doi: 10.1097/ICB.0000000000001294.PMID: 37903306

 

Multiple independent gene disorders causing Bardet-Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian patient.

Peixoto de Barcelos I, Li D, Watson D, M McCormick E, Elden L, Aleman TS, O'Neil EC, J Falk M, Hakonarson H. Brain Sci. 2023 Aug 16;13(8):1210. doi: 10.3390/brainsci13081210.PMID: 37626566 Free PMC article.

 

Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes.

Cideciyan AV, Jacobson SG, Ho AC, Swider M, Sumaroka A, Roman AJ, Wu V, Russell RC, Viarbitskaya I, Garafalo AV, Schwartz MR, Girach A. Am J Ophthalmol Case Rep. 2023 Jun 20;32:101873. doi: 10.1016/j.ajoc.2023.101873. eCollection 2023 Dec.PMID: 37388818 Free PMC article.

 

Motion-selective areas V5/MT and MST appear resistant to deterioration in choroideremia.

Silson EH, Baker CI, Aleman TS, Maguire AM, Bennett J, Ashtari M. Neuroimage Clin. 2023;38:103384. doi: 10.1016/j.nicl.2023.103384. Epub 2023 Mar 22.PMID: 37023490 Free PMC article. Clinical Trial.

 

Retinal photoreceptor layer thickness has disease specificity and distinguishes predicted FTLD-Tau from biomarker-determined Alzheimer's disease.

Kim BJ, Grossman M, Aleman TS, Song D, Cousins KAQ, McMillan CT, Saludades A, Yu Y, Lee EB, Wolk D, Van Deerlin VM, Shaw LM, Ying GS, Irwin DJ.Neurobiol Aging. 2023 May;125:74-82. doi: 10.1016/j.neurobiolaging.2023.01.015. Epub 2023 Feb 1.PMID: 36857870 Free PMC article.

 

Progression of Stargardt disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17).

Strauss RW, Ho A, Jha A, Fujinami K, Michaelides M, Cideciyan AV, Audo I, Birch DG, Sadda S, Ip M, West S, Schönbach EM, Kong X, Scholl HPN; Progstar Study Group. Am J Ophthalmol. 2023 Jun;250:157-170. doi: 10.1016/j.ajo.2023.02.003. Epub 2023 Feb 9.PMID: 36764427

 

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.

Bennett J, Aleman EM, Maguire KH, Nadelmann J, Weber ML, Maguire WM, Maja A, O'Neil EC, Maguire AM, Miller AJ, Aleman TS. Transl Vis Sci Technol. 2023 Jan 3;12(1):28. doi: 10.1167/tvst.12.1.28.PMID: 36716040 Free PMC article.

 

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL. Transl Vis Sci Technol. 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25.PMID: 36692456 Free PMC article.

 

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.

Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E. Vision Res. 2023 Feb;203:108157. doi: 10.1016/j.visres.2022.108157. Epub 2022 Nov 28.PMID: 36450205 Free PMC article.

 

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS. J Neuroophthalmol. 2023 Mar 1;43(1):110-115. doi: 10.1097/WNO.0000000000001678. Epub 2022 Aug 2.PMID: 35921603

 

NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.

Tauqeer Z, O'Neil EC, Brucker AJ, Aleman TS. Retin Cases Brief Rep. 2023 Jul 1;17(4):352-358. doi: 10.1097/ICB.0000000000001208. Epub 2021 Nov 17.PMID: 36913617

 

ADULT-ONSET BEST1 -VITELLIFORM DYSTROPHY ASSOCIATED WITH ANGIOID STREAK-LIKE CHANGES IN TWO SIBLINGS.

Li Y, Bracha P, Aleman TS, Brucker AJ. Retin Cases Brief Rep. 2023 May 1;17(3):256-260. doi: 10.1097/ICB.0000000000001164.PMID: 34001763