Other genetic forms of LCA

SUMMARY

We have investigated retinal function and structure phenotype and disease progression in CRX-, TULP1-, CRB1-, RDH12-, RPGRIP1-, LCA5- and AIPL1-associated forms of LCA, as well as forms of LCA without genetic diagnosis.


14 PUBLICATIONS ON OTHER GENETIC FORMS OF LCA

180. Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB, Sheplock R, Kosyk MS, Swider M, CIDECIYAN AV. Pupillary light reflexes in severe photoreceptor blindness isolate the melanopic component of intrinsically photosensitive retinal ganglion cells. Investigative Ophthalmology & Visual Science 58:3215-3224, 2017. [PubMed]

169. Aguirre GK, Datta R, Benson NC, Prasad S, Jacobson SG, CIDECIYAN AV,  Bridge H, Watkins KE, Butt OH, Dain AS, Brandes L, Gennatas ED. Patterns of individual variation in visual pathway structure and function in the sighted and blind. PLoS One 11(11): e0164677, 2016. [PubMed]

155. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, Schwartz SB. Leber congenital amaurosis: Genotypes and retinal structure phenotypes. Advances in Experimental Medicine and Biology 854:169-75, 2016. [PubMed]

140. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Roman AJ, Schwartz SB, Luo X, Sheplock R, Dauber JM, Swider M, Stone EM. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative Ophthalmology & Visual Science 55:5354-64, 2014. [PubMed]

132. Jacobson SG, Sumaroka A, Luo X, CIDECIYAN AV. Retinal optogenetic therapies: clinical criteria for candidacy. Clinical Genetics 84:175–182, 2013. [PubMed]

119. Aleman TS, CIDECIYAN AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual Science, 52:6898-6910, 2011. [PubMed]

113. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Investigative Ophthalmology & Visual Science, 52:70-79, 2011. [PubMed]

103. Jacobson SG, Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Windsor EAM, Swider M, Herrera W, Stone EM. Leber congenital amaurosis caused by Lebercilin(LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization. Molecular Vision, 15:1098-1106, 2009. [PubMed] [PDF]

83. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by RPGRIP1 mutation shows treatment potential. Ophthalmology 114:895-898, 2007. [PubMed]

80. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EAM, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, do not share disease expression. Investigative Ophthalmology & Visual Science 48:332-338, 2007. [PubMed]

61. Aleman TS, Jacobson SG, Chico JD, Scott ML, Cheung AY, Windsor EAM, Furushima M, Redmond TM, Bennett J, Palczewski K, CIDECIYAN AV. Impairment of the transient pupillary light reflex in Rpe65-/- mice and humans with Leber congenital amaurosis. Investigative Ophthalmology & Visual Science 45:1259-1271, 2004. [PubMed]

56. Jacobson SG, CIDECIYAN AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics, 12:1073–1078, 2003. [PubMed]

28. Lewis CA, Batlle IR, Batlle KGR, Banerjee P, CIDECIYAN AV, Huang J, Aleman TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG. TULP1 (tubby-like protein 1) homozygous splice-site mutation causes early-onset severe retinal degeneration. Investigative Ophthalmology & Visual Science, 40:2106-2114, 1999. [PubMed]

27. Jacobson SG, CIDECIYAN AV, Huang Y, Hanna DB, Freund CL, Affatigato L, Carr RE, Zack DJ, Stone EM, McInnes RR. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Investigative Ophthalmology & Visual Science, 39:2417-2426, 1998. [PubMed]


Last updated August 3, 2017