[HTML][HTML] Gene Therapy for Achromatopsia

MF Baxter, GA Borchert - International Journal of Molecular Sciences, 2024 - mdpi.com
Achromatopsia is the most common cone dysfunction syndrome, affecting 1 in 30,000
people. It is an autosomal recessive disorder with a heterogeneous genetic background with …

Intact high-level visual functions in congenital rod-monochromacy

S Shabat, A McKyton, D Elul, D Marks Ohana… - Frontiers in …, 2024 - frontiersin.org
High-level visual functions such as reading and face recognition rely on global processes,
which are often insensitive to high spatial frequencies. However, it is unknown whether a …

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia

G Grissim, A Walesa, HM Follett… - … & Visual Science, 2024 - iovs.arvojournals.org
Purpose: Achromatopsia (ACHM) is an autosomal recessive retinal disease associated with
reduced or absent cone function. There is debate regarding the extent to which cone …

A review on achromatopsia: Exploring genetic basis, diagnostic innovations, and therapeutic prospects

S Jee, B Sapkale, D Chandi, A Thakare - Multidisciplinary Reviews, 2025 - malque.pub
Achromatopsia (ACHM) is a rare inherited retinal disorder characterized by partial or
complete color blindness, which impacts individuals' quality of life and daily functioning. This …

Hierarchical cortical plasticity in congenital sight impairment

RO Maimon-Mor, M Farahbakhsh, N Hedger, AT Rider… - bioRxiv, 2024 - biorxiv.org
A robust learning system balances adaptability to new experiences with stability of its
foundational architecture. To investigate how the human brain implements this we used a …

[引用][C] Restoring color vision with gene therapy

S DeMarco