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Insights Into PROM1-Macular Disease Using Multimodal Imaging.
Paavo M, Lee W, Parmann R, Lima de Carvalho JR Jr, Zernant J, Tsang SH, Allikmets R, Sparrow JR. Paavo M, et al. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):27. doi: 10.1167/iovs.64.4.27. Invest Ophthalmol Vis Sci. 2023. PMID: 37093133 Free PMC article.
For 18 of the 20 eyes, qAF levels within the macula were within the 95% confidence intervals of healthy age-matched individuals; nor was the mean NIR-AF signal increased relative to healthy eyes. CONCLUSIONS: Although PROM1-macular dystrophy (Stargardt disease 4 …
For 18 of the 20 eyes, qAF levels within the macula were within the 95% confidence intervals of healthy age-matched individuals; nor was the …
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1).
Strauss RW, Muñoz B, Ahmed MI, Bittencourt M, Schönbach EM, Michaelides M, Birch D, Zrenner E, Ervin AM, Charbel Issa P, Kong J, Wolfson Y, Shah M, Bagheri S, West S, Scholl HPN; for the ProgStar-4 Study Group. Strauss RW, et al. Ophthalmic Res. 2018;60(3):185-194. doi: 10.1159/000491791. Epub 2018 Aug 15. Ophthalmic Res. 2018. PMID: 30110705
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
Ragi SD, Lima de Carvalho JR Jr, Tanaka AJ, Park KS, Mahajan VB, Maumenee IH, Tsang SH. Ragi SD, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004481. doi: 10.1101/mcs.a004481. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836589 Free PMC article.
Mutations in PROM1 are typically associated with cone-rod dystrophy 12 (OMIM#3612657), autosomal dominant retinal macular dystrophy 2 (OMIM#608051), autosomal recessive retinitis pigmentosa 41 (OMIM#612095), and Stargardt disease 4 (OMIM#603786). Here we desc …
Mutations in PROM1 are typically associated with cone-rod dystrophy 12 (OMIM#3612657), autosomal dominant retinal macular dystrophy 2 (OMIM# …