Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene

By Gränse Lotta   Bergstrand Ingar   Thiselton Dawn   Ponjavic Vesna   Heijl Anders   Votruba Marcela   Andréasson Sten  

Ophthalmic Genetics, Vol. 24, Iss. 4, 2003-12 ,pp. : 233-245

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A Splice-Site Mutation in CCM1/KRIT1 is Associated with Retinal and Cerebral Cavernous Hemangioma

By Kitzmann Anna S.   Pulido Jose S.   Ferber Matthew J.   Highsmith W. Edward   Babovic-Vuksanovic Dusica  

Ophthalmic Genetics, Vol. 27, Iss. 4, 2006-12 ,pp. : 157-159

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Cerebrotendinous Xanthomatosis (CTX): An Association of Pulverulent Cataracts and Pseudo-Dominant Developmental Delay in a Family with a Splice Site Mutation in CYP27A1— A Case Report

By Bourkiza Rabia   Joyce Sarah   Patel Himanshu   Chan Michelle   Meyer Esther   Maher Eamonn R.   Reddy M. Ashwin  

Ophthalmic Genetics, Vol. 31, Iss. 2, 2010-06 ,pp. : 73-76

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Colour discrimination ellipses in patients with dominant optic atrophy

By Simunovic M.P.   Votruba M.   Regan B.C.   Mollon J.D.  

Vision Research, Vol. 38, Iss. 21, 1998-11 ,pp. : 3413-3419

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Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

By Özden Serap   Düzcan Füsun   Wollnik Bernd   Çetin G. Ozan   Sahiner Türker   Bayramoglu Ismet   Yüksel-Apak Memnune   Bagci Hüseyin  

Ophthalmic Genetics, Vol. 23, Iss. 1, 2002-03 ,pp. : 29-36

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