Essilfie Juliet O, Huynh An, Gorin Michael B, Sadda SriniVas R
Stein Eye Institute, Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Department of Ophthalmology, Stein Eye Institute, Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California; and.
Retin Cases Brief Rep. 2021 Jan 1;15(1):5-9. doi: 10.1097/ICB.0000000000000723.
To report a case of ABCA4-related retinopathy and potential complications.
The authors describe a case report of intraretinal neovascularization in a patient with ABCA4-related retinopathy and describe the multimodal retinal imaging findings.
A 49-year-old woman presents with cystoid macular edema and diffuse intraretinal and perivascular hyperpigmentation in both eyes. Genetic testing confirmed ABCA4-related retinopathy. Fluorescein angiography revealed peripapillary intraretinal neovascularization in the absence of any other identifiable retinal pathology.
To the authors' knowledge, this is the first reported case of intraretinal neovascularization-associated ABCA4-related retinopathy. Ancillary testing of ABCA4-related retinopathy with fluorescein angiography or optical coherence tomography angiography may be helpful in identifying this rare complication.