A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

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Case Reports in Ophthalmology, Vol. 2, Iss. 3, 2011-09 ,pp. : 296-301

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An Atypical Form of Bietti Crystalline Dystrophy

By Rossi Settimio   Testa Francesco   Li Anren   Iorio Valentina Di   Zhang Jun   Gesualdo Carlo   Corte Michele Della   Chan Chi-Chao   Fielding Hejtmancik J.   Simonelli Francesca  

Ophthalmic Genetics, Vol. 32, Iss. 2, 2011-06 ,pp. : 118-121

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Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram

By Thiagalingam Sureka   McGee Terri   Weleber Richard   Sandberg Michael   Trzupek Karmen   Berson Eliot   Dryja Thaddeus  

Ophthalmic Genetics, Vol. 28, Iss. 3, 2007-07 ,pp. : 135-142

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Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)

By Omoto Satoshi   Hayashi Takaaki   Kitahara Kenji   Takeuchi Tomokazu   Ueoka Yasuo  

Ophthalmic Genetics, Vol. 25, Iss. 2, 2004-06 ,pp. : 81-90

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Three Novel Mutations in the X-Linked Juvenile Retinoschisis (XLRS1) Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome

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Ophthalmic Research, Vol. 35, Iss. 5, 2003-08 ,pp. : 295-300

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