Cellular mechanisms of hereditary photoreceptor degeneration–Focus on cGMP
The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …
Acquired color vision deficiency
MP Simunovic - Survey of ophthalmology, 2016 - Elsevier
Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic
disease. A wide array of conditions may affect color vision, ranging from diseases of the …
disease. A wide array of conditions may affect color vision, ranging from diseases of the …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Sensitive genetically encoded sensors for population and subcellular imaging of cAMP in vivo
Cyclic adenosine monophosphate (cAMP) signaling integrates information from diverse G-
protein-coupled receptors, such as neuromodulator receptors, to regulate pivotal biological …
protein-coupled receptors, such as neuromodulator receptors, to regulate pivotal biological …
Achromatopsia: genetics and gene therapy
S Michalakis, M Gerhardt, G Rudolph… - Molecular diagnosis & …, 2022 - Springer
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …
The cone dysfunction syndromes
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly
stationary retinal disorders characterised by reduced central vision and varying degrees of …
stationary retinal disorders characterised by reduced central vision and varying degrees of …
Causes and consequences of inherited cone disorders
S Roosing, AAHJ Thiadens, CB Hoyng… - Progress in retinal and …, 2014 - Elsevier
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity,
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
M Solaki, B Baumann, P Reuter, S Andreasson… - Human …, 2022 - Wiley Online Library
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …
Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands
L Huang, X Xiao, S Li, X Jia, P Wang, W Sun… - Experimental eye …, 2016 - Elsevier
Cone-rod dystrophy (CORD) is a common form of inherited retinal degeneration. Previously,
we have conducted serial mutational analysis in probands with CORD either by Sanger …
we have conducted serial mutational analysis in probands with CORD either by Sanger …