Retinal manifestations of cerebroretinal vasculopathy.
We report a case of a 42-year-old woman who presented with a slowly progressive decrease in visual acuity and memory loss. Dilated fundus exam showed cotton-wool spots and parafoveal telangiectasias. Fluorescein angiography revealed foveal capillary nonperfusion, which was very similar to that of her father, who passed away from a similar illness. These two patients share the same clinical, angiographic and pathologic features as a pedigree that had autosomal dominant cerebroretinal vasculopathy. Hereditary small vessel disease of the brain and retina is a spectrum of different entities that has many manifestations in end organs outside of the central nervous system.
Qian
Ying
Y
Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Kosmorsky
Gregory
G
Kaiser
Peter K
PK
D000328:Adult; D002196:Capillaries; D002561:Cerebrovascular Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000098:blood supply; D005654:Fundus Oculi; D006801:Humans; D007511:Ischemia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D008569:Memory Disorders / Q000209:etiology; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012171:Retinal Vessels; D013684:Telangiectasis / Q000175:diagnosis / Q000209:etiology