Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations

[1]  Y. Miyake,et al.  A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. , 2000, Investigative ophthalmology & visual science.

[2]  T. Kikuchi,et al.  A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. , 2000, American journal of ophthalmology.

[3]  Y. Tano,et al.  Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. , 2000, Investigative ophthalmology & visual science.

[4]  M. Tamai,et al.  A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. , 2000, Investigative ophthalmology & visual science.

[5]  D. Han,et al.  11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. , 1999, Molecular vision.

[6]  T. Dryja,et al.  Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus , 1999, Nature Genetics.

[7]  G. Holmgren,et al.  Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. , 1999, Investigative ophthalmology & visual science.

[8]  T. Dryja,et al.  Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. , 1999, Investigative ophthalmology & visual science.

[9]  M. Sandberg,et al.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens , 1993, Nature Genetics.

[10]  K. Yagasaki,et al.  Fundus albipunctatus associated with cone dystrophy. , 1992, The British journal of ophthalmology.

[11]  M. Marmor Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. , 1990, Ophthalmology.

[12]  S. Fujieda,et al.  塩酸メキシレチン(メキシチール®)の耳鳴に対する効果の検討 , 1987 .

[13]  J. Scouras,et al.  [Macular involvement in retinitis albescens (author's transl)]. , 1979, Journal francais d'ophtalmologie.

[14]  J. Rotmans,et al.  Biochemical aspects of the visual process. XXVII. Stereospecificity of ocular retinol dehydrogenases and the visual cycle. , 1970, Biochimica et biophysica acta.

[15]  A. Krill Congenital stationary night blindness , 1977 .

[16]  Alex E. Krill,et al.  Hereditary Retinal and Choroidal Diseases , 1973 .