C F Parsa1, E W Cheeseman, I H Maumenee. 1. Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Abstract
PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. METHODS: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. Fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. Color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.
PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. METHODS: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. Fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. Color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.
Authors: Mohsin H Ali; Nathalie F Azar; Vinay Aakalu; Felix Y Chau; Javaneh Abbasian; Pete Setabutr; Irene H Maumenee Journal: Ophthalmic Genet Date: 2017-12-04 Impact factor: 1.803