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. Author manuscript; available in PMC: 2013 May 20.
Published in final edited form as: Nat Genet. 2012 Jul 29;44(9):1035–1039. doi: 10.1038/ng.2356

Table 1.

NMNAT1 mutations and clinical phenotypes in individuals with LCA

MOGL number Age (years) Allele 1 Allele 2 Clinical information Nationality
208 56 c.769G>A (p.Glu257Lys) c.817A>G (p.Asn273Asp) NLP and CF vision, hyperopia, nystagmus, pseudophakia French Canadian
512 13 c.619C>T (p.Arg207Trp) c.769G>A (p.Glu257Lys) CF vision, hyperopia, nystagmus French Canadian
1269 N/A c.451G>A (p.Val151Phe) c.769G>A (p.Glu257Lys) N/A European
624 10 c.769G>A (p.Glu257Lys) c.769G>A (p.Glu257Lys) NLP vision, hyperopia, nystagmus Saudi Arabian
3174 33 c.507G>A (p.Trp169*) c.710G>T (p.Arg237Leu) 20/2000 vision, hyperopia, nystagmus Irish
3294 41 c.199G>T (p.Val67Phe) c.769G>A (p.Glu257Lys) CF vision, hyperopia, nystagmus Russian
3698 10 c.37G>A (p.Ala13Thr) c.293T>G (p.Val98Gly) CF vision, hyperopia, nystagmus Haitian (African descent)
LCA9 2–30 c.838T>C (p.*280Gln) c.838T>C (p.*280Gln) LP vision, congenital visual loss, nystagmus, nyctalopia, all (n = 8) have acquired macular colobomas, cataracts (PSCC), white retinal dots, retinal pigment, one has keratoconus Pakistani

All patients have macular colobomas. NLP, no light perception; LP, light perception; CF, counting fingers; N/A, not available.