Associated Papers
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL et al.
International Journal of Ophthalmology, 2016
Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Shen S et al.
Ophthalmic Genetics, 2014
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Kim C et al.
Molecular Vision, 2012
[Cause of retinitis pigmentosa and new therapeutics under development].
Sakamoto K et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011
A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.
Saga M et al.
Current Eye Research, 1998
A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.
Danciger M et al.
Molecular Vision, 1996
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
Danciger M et al.
Genomics, 1995
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