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Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Stone EM, Luo X, Héon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG. Stone EM, et al. Among authors: luo x. Invest Ophthalmol Vis Sci. 2011 Dec 28;52(13):9665-73. doi: 10.1167/iovs.11-8527. Invest Ophthalmol Vis Sci. 2011. PMID: 22110072 Free PMC article.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Cideciyan AV, et al. Among authors: luo x. Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30. Hum Gene Ther. 2013. PMID: 24067079 Free PMC article.
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