Matthew G J Trese1, Eric D Nudleman, Cagri G Besirli. 1. *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.
Abstract
PURPOSE: 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. This constellation of clinical features satisfies the clinical diagnostic criteria of CS Type 1. In addition to these well-known features, we used multimodal retinal imaging to perform an in-depth analysis of the retinal manifestations of CS and report peripheral vasculopathy and ellipsoid zone abnormality as two novel features which have not previously been described in conjunction with CS. CONCLUSION: This case report is intended to assist physicians in making the correct diagnosis of this rare condition by reviewing the clinical diagnostic criteria and providing the most comprehensive fundus imaging of CS available in the literature to date.
PURPOSE: 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. This constellation of clinical features satisfies the clinical diagnostic criteria of CS Type 1. In addition to these well-known features, we used multimodal retinal imaging to perform an in-depth analysis of the retinal manifestations of CS and report peripheral vasculopathy and ellipsoid zone abnormality as two novel features which have not previously been described in conjunction with CS. CONCLUSION: This case report is intended to assist physicians in making the correct diagnosis of this rare condition by reviewing the clinical diagnostic criteria and providing the most comprehensive fundus imaging of CS available in the literature to date.