| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8794249 | Ophthalmology | 2018 | 11 Pages |
Abstract
The ROC phenotype is a unique classification of ABCA4 disease, which is caused by deleterious null biallelic ABCA4 mutations and is characterized by the rapid deterioration of retinal pigment epithelium and photoreceptor layers in the macula and significant choroidal thinning within the first 2 decades of life.
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Authors
Koji MD, PhD, Winston MA, Jana PhD, Kaspar MD, Lyam MD, Stephen H. MD, PhD, Janet R. PhD, Rando PhD,