Significats de achromatopsia en anglès

Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

We describe a patient with persistent cerebral achromatopsia occurring after bilateral occipital strokes.

The vision in typical complete achromatopsia is mediated only by rods.

Conclusion: We report the occurrence of CNGB3-achromatopsia in a new canine breed, the MAS.

Patients with cerebral achromatopsia are commonly said to suffer due to their disturbed colour sense.

Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function.

Cerebral achromatopsia is a rare disorder of colour vision caused by bilateral damage to the occipito-temporal cortex.

Neil Harbisson has the condition achromatopsia, a hereditary vision disorder which affects one in 33,000 people.

Results: Here we report an in-depth characterization of the achromatopsia phenotype in a new canine breed, the miniature Australian shepherd (MAS).

A substantial number of foveal and parafoveal cone photoreceptors with apparently intact inner segments were identified in patients with the inherited disease achromatopsia.

In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia.

Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia.

We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13.

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination.

Achromatopsia is an inherited retinal disorder of cone photoreceptors characterized by markedly reduced visual acuity, extreme light sensitivity, and absence of color discrimination.

Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.