fMRI and gene therapy in adults with CNGB3 mutation.

Achromatopsia is an inherited retinal disease that affects 1 in 30,000-50,000 individuals and is characterised by an absence of functioning cone photoreceptors from birth. This results in severely reduced visual acuity, no colour vision, marked sensitivity to light and involuntary oscillations of the eyes (nystagmus). In most cases, a single gene mutation prevents normal development of cone photoreceptors, with mutations in the CNGB3 or CNGA3 gene being responsible for ∼80 % of all patients with achromatopsia.

A demonstration of cone function plasticity after gene therapy in achromatopsia.

Recent advances in regenerative therapy have placed the treatment of previously incurable eye diseases within arms' reach. Achromatopsia is a severe monogenic heritable retinal disease that disrupts cone function from birth, leaving patients with complete colour blindness, low acuity, photosensitivity and nystagmus. While successful gene-replacement therapy in non-primate models of achromatopsia has raised widespread hopes for clinical treatment, it was yet to be determined if and how these therapies can induce new cone function in the human brain.

Development of the spatial contrast sensitivity function (CSF) during childhood: Analysis of previous findings and new psychophysical data.

Although the contrast sensitivity function (CSF) changes markedly during infancy, there is no consensus regarding whether, how, and why it continues to develop in later childhood. Here, we analyzed previously published data (N = 1928 CSFs), and present new psychophysical findings from 98 children (4.7-14.

Psychophysics with children: Evaluating the use of maximum likelihood estimators in children aged 4-15 years (QUEST+).

Maximum Likelihood (ML) estimators such as QUEST+ allow complex psychophysical measurements to be made more quickly and precisely than traditional staircase techniques. They could therefore be useful for quantifying sensory function in populations with limited attention spans, such as children. To test this, the present study empirically evaluated the performance of an ML estimator (QUEST+) versus a traditional Up-Down Weighted Staircase in children and adults.