PMID: 26247787

Song H, Rossi EA, Latchney L, Bessette A, Stone E, Hunter JJ, Williams DR, Chung M
Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.
JAMA Ophthalmol. 2015 Oct;133(10):1198-203. doi: 10.1001/jamaophthalmol.2015.2443., [PubMed]
Sentences
No. Mutations Sentence Comment
36 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 26247787:36:71
status: NEW
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ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 26247787:36:104
status: NEW
view ABCA4 p.Gly863Ala details
 Molecular genetic analysis revealed 3 disease-causing ABCA4 mutations: Gly1961Glu (paternal allele) and Gly863Ala and Arg2030Stop (maternal allele). Login to comment 87 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 26247787:87:39
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 26247787:87:65
status: NEW
view ABCA4 p.Gly863Ala details
 Two of the 3 disease-causing mutations-Gly1961Glu (paternal) and Gly863Ala (maternal)-have been associated with a milder visual acuity and visual field phenotype.9 The additional Arg2030Stop mutation on the maternal allele is uncommon, and its pathogenic contribution has not been well described, but the 2 mutations on the maternal allele were not sufficient to cause disease in the carrier state. Login to comment