Published in Jpn J Ophthalmol on October 07, 2016
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol (2017) 0.75
Human photoreceptor topography. J Comp Neurol (1990) 10.24
The arrangement of the three cone classes in the living human eye. Nature (1999) 4.53
ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol (2014) 3.62
Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology (2013) 3.10
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acad Sci U S A (1999) 2.46
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
In vivo imaging of human cone photoreceptor inner segments. Invest Ophthalmol Vis Sci (2014) 2.30
Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet (2000) 2.18
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci (2006) 2.05
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2010) 1.61
In vivo imaging of the photoreceptor mosaic of a rod monochromat. Vision Res (2008) 1.46
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet (2004) 1.44
Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. Invest Ophthalmol Vis Sci (2005) 1.38
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet (2012) 1.36
High-resolution in vivo imaging in achromatopsia. Ophthalmology (2011) 1.27
Variations in image optical quality of the eye and the sampling limit of resolution of the cone mosaic with axial length in young adults. J Cataract Refract Surg (2012) 1.19
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics (1998) 1.15
In vivo measurements of cone photoreceptor spacing in myopic eyes from images obtained by an adaptive optics fundus camera. Jpn J Ophthalmol (2007) 1.08
Electroretinograms in patients with achromatopsia. Acta Ophthalmol (Copenh) (1991) 1.06
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. Invest Ophthalmol Vis Sci (2014) 0.94
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci (2004) 0.91
Presence of foveal bulge in optical coherence tomographic images in eyes with macular edema associated with branch retinal vein occlusion. Am J Ophthalmol (2013) 0.89
Reliability of cone counts using an adaptive optics retinal camera. Clin Experiment Ophthalmol (2014) 0.87
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol (2003) 0.86
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome. Mol Vis (2013) 0.85
Photoreceptor images of normal eyes and of eyes with macular dystrophy obtained in vivo with an adaptive optics fundus camera. Jpn J Ophthalmol (2008) 0.83
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3. Jpn J Ophthalmol (2011) 0.81
NEAR-INFRARED REFLECTANCE IMAGING IN EYES WITH ACUTE ZONAL OCCULT OUTER RETINOPATHY. Retina (2015) 0.79
Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci (2015) 0.79
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol (2016) 0.78
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. J Hum Genet (2010) 0.77
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One (2014) 0.90
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. Am J Ophthalmol (2013) 0.83
Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci (2015) 0.79
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene. Ophthalmic Res (2011) 0.78
Choroidal thickening and macular serous retinal detachment in pregnancy-induced hypertension. Int Med Case Rep J (2015) 0.75
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol (2016) 0.75
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Hum Mutat (2017) 0.75
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. Br J Ophthalmol (2015) 0.75
Foveal Hypoplasia in Patients with Stickler Syndrome. Ophthalmology (2017) 0.75
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. Am J Med Genet C Semin Med Genet (2020) 0.75
Closure of a full-thickness macular hole without vitrectomy in choroideraemia. Clin Exp Optom (2016) 0.75
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. Am J Ophthalmol (2016) 0.75
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol (2017) 0.75