PMID: 16303974

Cideciyan AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.
Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4739-46., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 16303974:60:96
status: NEW
view ABCA4 p.Gly1961Glu details
 16), a 23-year-old man with clinically diagnosed11 STGD phenotype I and a molecularly diagnosed G1961E mutation in the ABCA4 gene. Login to comment 61 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 16303974:61:96
status: NEW
view ABCA4 p.Gly1961Glu details
 16), a 23-year-old man with clinically diagnosed11 STGD phenotype I and a molecularly diagnosed G1961E mutation in the ABCA4 gene. He had best corrected visual acuities of 20/40 and 20/ 100 in the right and left eyes, respectively. Login to comment 72 ABCA4 p.Arg2030Gln
X
ABCA4 p.Arg2030Gln 16303974:72:157
status: NEW
view ABCA4 p.Arg2030Gln details
 A more advanced disease stage of ABCA4-RD is illustrated by P46, a 48-year-old woman with clinically diagnosed STGD phenotype II and a molecularly diagnosed R2030Q mutation in the ABCA4 gene. Login to comment