PMID: 22948568

Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
Mol Med Rep. 2012 Nov;6(5):1045-9. doi: 10.3892/mmr.2012.1063. Epub 2012 Sep 4., [PubMed]
Sentences
No. Mutations Sentence Comment
67 ABCA4 p.Met2130Lys
X
ABCA4 p.Met2130Lys 22948568:67:354
status: NEW
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 Best corrected Mutations visual acuity ID -------------------------------------------------- Age at First ---------------------------- Posterior Number ccds pro Gender onset symptom OD OS Macula retina QT223 2633C>A Ser878X M 19 Blurred 0.1 0.1 Foveal reflex was Yellow and vision blunted white exudation QT292 6389T>A Met2130Lys M >10 Blurred 0.1 0.2 Pigmental Normal vision proliferation. Login to comment 68 ABCA4 p.Met1882Ile
X
ABCA4 p.Met1882Ile 22948568:68:34
status: NEW
view ABCA4 p.Met1882Ile details
 Gold metal reflex QT431 5646G>A Met1882Ile F 10 Blurred 0.2 0.2 Pigmental disorder. Login to comment 70 ABCA4 p.Met2130Lys
X
ABCA4 p.Met2130Lys 22948568:70:80
status: NEW
view ABCA4 p.Met2130Lys details
 lipofuscin deposits in the posterior pole of the retina, while the patient with Met2130Lys presented with a macula having a bronze metal appearance. Login to comment