Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subu...

Gene therapy rescues cone function in congenital achromatopsia.

The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an inherited disease of the retinal pigment epithelium has ushered in a new era of retinal therapeutics. For many retinal disorders, however, targeting of therapeutic vectors to mutant rods and/or cones will be required. In this study, the pri...

Optical coherence tomography of the macula in congenital achromatopsia.

PURPOSE It is known that symptoms of congenital achromatopsia are caused by the lack of functioning cones, but there are very few published data on histologic changes in the retina in these cases. This study was conducted to examine in vivo the anatomic structure of the retina of patients with achromatopsia. METHODS Fifteen eyes of eight patients with congenital achromatopsia and 18 eyes of n...

Clinical and molecular genetic examinations of patients with congenital achromatopsia

Photoreceptor structure and function in patients with congenital achromatopsia.

PURPOSE To assess photoreceptor structure and function in patients with congenital achromatopsia. METHODS Twelve patients were enrolled. All patients underwent a complete ocular examination, spectral-domain optical coherence tomography (SD-OCT), full-field electroretinographic (ERG), and color vision testing. Macular microperimetry (MP; in four patients) and adaptive optics (AO) imaging (in n...

A Novel ABO Gene Variant Leads to Discrepant Results in Forward/Reverse and Molecular Blood Grouping.

BACKGROUND Discrepant results in antigen and reverse ABO blood typing are often caused by a variant ABO gene. Molecular analysis can help to characterize such variants. Here, we describe the identification of a novel ABO gene variant in a patient with aberrant ABO phenotype and discrepant genotyping results. METHODS A patient with discrepant results in automated forward and reverse ABO phenot...