Blue cone monochromacy and gene therapy
ER Sechrest, K Chmelik, WD Tan, WT Deng - Vision Research, 2023 - Elsevier
Blue cone monochromacy (BCM) is a congenital vision disorder characterized by complete
loss or severely reduced long-and middle-wavelength cone function, caused by mutations in …
loss or severely reduced long-and middle-wavelength cone function, caused by mutations in …
[HTML][HTML] Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation
ER Sechrest, X Ma, ME Cahill, RJ Barbera, Y Wang… - JCI insight, 2024 - ncbi.nlm.nih.gov
An arginine to cysteine substitution at amino acid position 203 (C203R) is the most common
missense mutation in human cone opsin. Linked to color blindness and blue cone …
missense mutation in human cone opsin. Linked to color blindness and blue cone …
The Global Impact of COVID-19: Historical Development, Molecular Characterization, Drug Discovery and Future Directions
AK Dofuor, NKA Quartey, AF Osabutey… - Clinical …, 2023 - journals.sagepub.com
In December 2019, an outbreak of a respiratory disease called the coronavirus disease
2019 (COVID-19) caused by a new coronavirus known as severe acute respiratory …
2019 (COVID-19) caused by a new coronavirus known as severe acute respiratory …
[HTML][HTML] Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy
AV Cideciyan, AJ Roman, RL Warner… - International Journal of …, 2024 - mdpi.com
L-cone opsin expression by gene therapy is a promising treatment for blue cone
monochromacy (BCM) caused by congenital lack of long-and middle-wavelength-sensitive …
monochromacy (BCM) caused by congenital lack of long-and middle-wavelength-sensitive …
Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function
ER Sechrest, RJ Barbera, X Ma, F Dyka… - Frontiers in …, 2024 - frontiersin.org
Long-and middle-wavelength cone photoreceptors, which are responsible for our visual
acuity and color vision, comprise~ 95% of our total cone population and are concentrated in …
acuity and color vision, comprise~ 95% of our total cone population and are concentrated in …
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
AA Mascio, AJ Roman, AV Cideciyan… - … Vision Science & …, 2023 - tvst.arvojournals.org
Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy due to mutations in the
OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed …
OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed …
Color vision defects
M Neitz, J Neitz - Emery and Rimoin's Principles and Practice of Medical …, 2025 - Elsevier
The human retina contains two classes of image-forming photoreceptors, rods and cones.
Rods mediate vision in dim light, and cones are responsible for vision in bright light and …
Rods mediate vision in dim light, and cones are responsible for vision in bright light and …
Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy
K Hanna, J Nieves, C Dowd, KO Bender, P Sharma… - Molecular Therapy, 2023 - cell.com
Blue cone monochromacy (BCM) is a rare X-linked retinal disease characterized by the
absence of L-and M-opsin in cone photoreceptors, considered a potential gene therapy …
absence of L-and M-opsin in cone photoreceptors, considered a potential gene therapy …
Dysfunction of heat shock factor 4 impairs retinal structure and visual function in mice and zebrafish
B Liu, MJ Xue, MJ Jiang, X lin Jia, D Chen, G ZHou… - 2024 - researchsquare.com
Purpose Loss of function of heat shock factor 4 (HSF4) causes microphthalmia with lens
opacification. The objective of this study is to uncover the regulation of HSF4 on retinal …
opacification. The objective of this study is to uncover the regulation of HSF4 on retinal …