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Brain Res Bull ; 215: 111026, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38971478

RESUMO

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. There are a growing number of studies investigating recovery of cone function after targeted gene therapy. These studies have provided some promise for patients with the CNGA3 mutation, but thus far have found limited or no recovery for patients with the CNGB3 mutation. Here, we developed colour-calibrated visual stimuli designed to isolate cone photoreceptor responses. We combined these with adapted fMRI techniques and pRF mapping to identify if cortical responses to cone-driven signals could be detected in 9 adult patients with the CNGB3 mutation after receiving gene therapy. We did not detect any change in brain activity after gene therapy when the 9 patients were analysed as a group. However, on an individual basis, one patient self-reported a change in colour perception, corroborated by improved performance on a psychophysical task designed to selectively identify cone function. This suggests a level of cone sensitivity that was lacking pre-treatment, further supported by a subtle but reliable change in cortical activity within their primary visual cortex.


Assuntos
Defeitos da Visão Cromática , Canais de Cátion Regulados por Nucleotídeos Cíclicos , Terapia Genética , Imageamento por Ressonância Magnética , Mutação , Células Fotorreceptoras Retinianas Cones , Humanos , Adulto , Defeitos da Visão Cromática/genética , Defeitos da Visão Cromática/terapia , Defeitos da Visão Cromática/fisiopatologia , Terapia Genética/métodos , Masculino , Imageamento por Ressonância Magnética/métodos , Feminino , Mutação/genética , Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética , Células Fotorreceptoras Retinianas Cones/fisiologia , Pessoa de Meia-Idade , Adulto Jovem , Estimulação Luminosa/métodos , Percepção de Cores/fisiologia , Córtex Visual/diagnóstico por imagem
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