Retin Cases Brief Rep 2016 Apr 27. Epub 2016 Apr 27.
*Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan; and †Department of Ophthalmology, Shiley Eye Center and Jacobs Retina Center, University of California, San Diego, La Jolla, California.
: To present peripheral retinal vasculopathy and foveal ellipsoid zone abnormalities as novel fundus manifestations of Cockayne syndrome (CS), a rare autosomal recessive condition with well-described ophthalmic associations.Methods
: Clinical examination, wide-field fundus photography, wide-field fundus autofluorescence, wide-field fluorescein angiography, and spectral domain optical coherence tomography (SD-OCT) were used to diagnose and document the patient's clinical presentation.Results
: Our patient presented with postnatal growth delay, neurologic dysfunction, premature aging, dental anomalies, sensory neural hearing loss, and pigmentary retinopathy. Read More