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Abbreviation : ACHM
Long Form : achromatopsia
No. Year Title Co-occurring Abbreviation
2020 Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. ---
2020 Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia. AOSLO, CV, ICD, PCD, SD
2020 Multiexon deletion alleles of ATF6 linked to achromatopsia. ATF6
2020 Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. AIED, AS, BCVA, CRD, CSNB, FERG, LCA, PLAHF, PLAHF, SD-OCT
2019 Assessing the Interocular Symmetry of Foveal Outer Nuclear Layer Thickness in Achromatopsia. mTCI, OCT, ONL
2019 Characterization of Retinal Structure in ATF6-Associated Achromatopsia. AOSLO, EZ, OCT
2019 Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene. iPSC
2019 Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. ---
2018 Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. rAAV, RP
10  2018 Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up. FAF, FTRT, HRZ, ONL, SD-OCT
11  2018 Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. NIR-AF, OCT, SW-AF
12  2018 Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. ---
13  2018 Novel causative variants in patients with achromatopsia. ffERG, NGS
14  2018 Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. ALMS, BCVA, CORD, FAF, ISCEV, LCA, RD, SD-OCT
15  2017 A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia. PA
16  2017 A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. CD, OT, WES
17  2017 Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. AO, EZ, OCT
18  2017 Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep. AAV, ERG
19  2017 Gene therapy for achromatopsia. ---
20  2017 In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. AO, OCT
21  2017 Mechanisms of mutant PDE6 proteins underlying retinal diseases. adCSNB, RP
22  2016 Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. CSFs
23  2016 Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. AOSLO
24  2016 Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. AOSLO, OCT
25  2016 Social priming of hemispatial neglect affects spatial coding: Evidence from the Simon task. HN, SE, VF
26  2015 Achromatopsia: on the doorstep of a possible therapy. ---
27  2015 Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. CLZ, CNG, MD
28  2015 Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ---
29  2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. ERG
30  2015 Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. CNGA3, TES
31  2015 Mutation of ATF6 causes autosomal recessive achromatopsia. ER
32  2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ER, UPR
33  2015 Novel CNGA3 mutations in Chinese patients with achromatopsia. BCVA, IS/OS, SD-OCT
34  2014 A prospective longitudinal study of retinal structure and function in achromatopsia. FAF, FTRT, ONL, SD-OCT
35  2014 Causes and consequences of inherited cone disorders. CDs, COD, CRD, STGD
36  2014 Cone specific promoter for use in gene therapy of retinal degenerative diseases. AAV
37  2014 Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. DA
38  2014 Five novel CNGB3 gene mutations in Polish patients with achromatopsia. ERG
39  2014 Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. AO
40  2014 Retinal structure and function in achromatopsia: implications for gene therapy. HRZ, ISe, ONL, SD-OCT
41  2013 Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. ---
42  2013 Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family. AOSLO, RP, SD-OCT
43  2012 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. ---
44  2011 Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. PDE
45  2011 Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3. ---
46  2010 Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. SD-OCT
47  2009 Genetic etiology and clinical consequences of complete and incomplete achromatopsia. ---
48  2009 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. AR, CD, cGMP
49  2007 Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. ERG, UPD