Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6200554 | Ophthalmology | 2014 | 10 Pages |
Abstract
This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations. Both affected siblings exhibited a relatively well-developed retinal structure and preservation of generalized retinal function. An unusual 5-year progression of macular atrophy alone was observed that has not been described in any other CRB1-associated phenotypes.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Ophthalmology
Authors
Stephen H. MD, PhD, Tomas MD, Maris MD, Suzanne MD, PhD, Winston MA, Yajing (Angela) MA, Rando PhD,