Disease: Achromatopsia incomplete- X-linked
- Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene
- Characterization of a novel form of X-linked incomplete achromatopsia
- Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2
- Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status
- Clinical vision characteristics of the congenital achromatopsias. II. Color vision
- Congenital stationary night blindness in mice - a tale of two Cacna1f mutants
- Congenital Stationary Night Blindness Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients
- Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene
- Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
- Manic-depressive illness and linkage reanalysis in the Xq27-Xq28 region of chromosome X
- Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort
- Novel <em>OPN1LW/OPN1MW</em> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
- Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
- Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy
- Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes
- Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder
- Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations