Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet (2010) 2.18

Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci (2011) 1.61

Naturally occurring animal models with outer retina phenotypes. Vision Res (2009) 1.14

Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech (2015) 1.05

Integrity of the cone photoreceptor mosaic in oligocone trichromacy. Invest Ophthalmol Vis Sci (2011) 0.96

[Genetic causes of hereditary cone and cone-rod dystrophies]. Ophthalmologe (2009) 0.87

The cone dysfunction syndromes. Br J Ophthalmol (2015) 0.86

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. Hum Genet (2005) 0.86

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis (2010) 0.81

[Achromatopsia]. Ophthalmologe (2010) 0.77

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol (2016) 0.77

Gene Expression Profiling of the Optic Nerve Head of Patients with Primary Open-Angle Glaucoma. J Ophthalmol (2017) 0.75

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension (2004) 2.32

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10

In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res (2005) 2.02

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology (2013) 1.99

Photoreceptor cell death mechanisms in inherited retinal degeneration. Mol Neurobiol (2008) 1.94

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain (2007) 1.82

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A (2009) 1.64

Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63

Artificial vision with wirelessly powered subretinal electronic implant alpha-IMS. Proc Biol Sci (2013) 1.63

Spatial resolution and perception of patterns mediated by a subretinal 16-electrode array in patients blinded by hereditary retinal dystrophies. Invest Ophthalmol Vis Sci (2011) 1.52

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat (2004) 1.45

Retinal neurodegeneration in the DBA/2J mouse-a model for ocular hypertension. Acta Neuropathol (2004) 1.44

IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol (2004) 1.40

Viagra (sildenafil citrate) and ophthalmology. Prog Retin Eye Res (2002) 1.37

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet (2012) 1.36

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.29

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29

High-resolution in vivo imaging in achromatopsia. Ophthalmology (2011) 1.27

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci (2003) 1.25

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25

Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina (2004) 1.22

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet (2004) 1.22

Transcorneal electrical stimulation for patients with retinitis pigmentosa: a prospective, randomized, sham-controlled exploratory study. Invest Ophthalmol Vis Sci (2011) 1.21

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci (2008) 1.21

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci (2007) 1.21

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci (2008) 1.20

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18

Safety monitoring in bevacizumab (Avastin) treatment: retinal function assessed by psychophysical (visual fields, colour vision) and electrophysiological (ERG/EOG) tests in two subgroups of patients. Int Ophthalmol (2007) 1.18

Basic quantitative assessment of visual performance in patients with very low vision. Invest Ophthalmol Vis Sci (2009) 1.15

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat (2009) 1.14

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet (2011) 1.12

PARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function. PLoS One (2010) 1.10

Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis (2005) 1.10

Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. J Neurosci (2005) 1.10

Cataract prevalence and prevention in Europe: a literature review. Acta Ophthalmol (2012) 1.08

Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant rats. PLoS One (2011) 1.08

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet (2003) 1.07

Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography. Invest Ophthalmol Vis Sci (2008) 1.07

Visual resolution with retinal implants estimated from recordings in cat visual cortex. Vision Res (2006) 1.07

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat (2011) 1.06

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther (2013) 1.06

Restoration of useful vision up to letter recognition capabilities using subretinal microphotodiodes. Conf Proc IEEE Eng Med Biol Soc (2010) 1.05

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol (2004) 1.05

Visual short-term effects of Viagra: double-blind study in healthy young subjects. Am J Ophthalmol (2004) 1.04

Epidemiology of major eye diseases leading to blindness in Europe: a literature review. Ophthalmic Res (2011) 1.04

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet (2002) 1.03

Functional outcome in subretinal electronic implants depends on foveal eccentricity. Invest Ophthalmol Vis Sci (2013) 1.02

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet (2008) 1.02