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Early visual function impairment in CADASIL

From Clinica Oculistica Università "Tor Vergata" (Dr. V. Parisi), Fondazione per L’Oftalmologia G.B. Bietti, AfaR-IRCCS Divisione Oculistica Ospedale Fatebenefratelli, Isola Tiberina, Rome; IRCCS-Neuromed (Dr. Pierelli), Pozzilli; Dipartimento di Neurologia Clinica e Otorinolaringoiatria (Drs. Fattapposta, Bianco, L. Parisi, and Restuccia), Università "La Sapienza," Rome; Istituto di Scienze Neurologiche Università di Siena (Dr. Malandrini); Diagnostica e Ricerca San Raffaele SpA (Dr. Ferrari), Milan; and IRCCS (Dr. Carrera), "Ospedale S. Raffaele" Laboratorio di Genomica per la diagnostica delle patologie umane, Milan, Italy.

Address correspondence and reprint requests to Dr. Vincenzo Parisi, Cattedra di Clinica Oculistica, Università di Roma "Tor Vergata," Via Santa Maria Goretti 66, 00199 Rome, Italy; e-mail: vparisi{at}tin.it

The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neural conduction in postretinal visual pathways, whereas in the remaining subjects without genetic mutations, no electrophysiologic abnormalities were found. An early vascular retinal impairment in CADASIL may precede the onset of clinical manifestations.

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