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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 699-701

Asymmetric maculopathy with mutations in adenosine triphosphate-binding cassette, sub-family A, member 4 and jagged canonical notch ligand 1 after 30 years of monocular aphakia


1 Department of Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
2 Retina Foundation of the Southwest, Rose-Silverthorne Retinal Degenerations Laboratory, Dallas, Texas, United States

Correspondence Address:
Dr. Rafael L Ufret-Vincenty
Department of Ophthalmology, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas
United States
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_3583_20

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We report an unusual case of asymmetric maculopathy in a patient with a 30-year history of monocular aphakia. An 82-year old man presented with unexplained visual loss in his right eye. Examination revealed loss of the ellipsoid zone, abnormal visual fields, and multifocal electroretinogram, all worse in the right eye. Suspecting a genetic predisposition to maculopathy that may have been exacerbated by the asymmetric media, we conducted genetic testing that revealed mutations in adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4) and jagged canonical notch ligand 1 (JAG1). This case shows that a genetic predisposition toward maculopathy may be exacerbated by extraretinal factors, including the asymmetric phakic status of the eyes.


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