Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report

By Srikrupa Natarajan N.   Meenakshi Swaminathan   Arokiasamy Tharigopala   Murali Kaushik   Soumittra Nagasamy  

Ophthalmic Genetics, Vol. 35, Iss. 2, 2014-06 ,pp. : 119-124

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Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1

By Zobor Ditta   Kaufmann Dieter H.   Weckerle Petra   Sauer Alexandra   Wissinger Bernd   Wilhelm Helmut   Kohl Susanne  

Ophthalmic Genetics, Vol. 33, Iss. 1, 2012-03 ,pp. : 34-38

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Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease

By Kniazeva Marina   Chiang Michael F.   Cutting Garry R.   Zack Donald J.   Han Min   Zhang Kang  

Ophthalmic Genetics, Vol. 20, Iss. 2, 1999-06 ,pp. : 71-81

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Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family

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Ophthalmic Research, Vol. 36, Iss. 2, 2004-03 ,pp. : 82-88

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Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

By Van Ghelue Marijke   Eriksen Hans L.   Ponjavic Vesna   Fagerheim Toril   Andréasson Sten   Forsman-Semb Kristina   Sandgren Ola   Holmgren Gösta   Tranebjærg Lisbeth  

Ophthalmic Genetics, Vol. 21, Iss. 4, 2000-12 ,pp. : 197-209

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