ArticleDocumenta ophthalmologica. Advances in ophthalmology2014
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.International journal of molecular sciences · 2022Article
- Retinal Proteomic Analysis in a Mouse Model of Endotoxin-Induced Uveitis Using Data-Independent Acquisition-Based Mass Spectrometry.International journal of molecular sciences · 2022Article
- Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.International journal of molecular sciences · 2022Article
- Structural basis of retinal membrane guanylate cyclase regulation by GCAP1 and RD3.Frontiers in molecular neuroscience · 2022Review
- Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs).International journal of molecular sciences · 2021Review
- VariousTurkish journal of pharmaceutical sciences · 2020Article
- Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition.International journal of molecular sciences · 2020Article
- Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.Scientific reports · 2019Article
- Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.International journal of molecular sciences · 2019Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.The Journal of biological chemistry · 2019Article
- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.The British journal of ophthalmology · 2019Review
- Evolutionary-Conserved Allosteric Properties of Three Neuronal Calcium Sensor Proteins.Frontiers in molecular neuroscience · 2019Article
- Functional characterization of a novelMolecular vision · 2019Article
- Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina.Scientific reports · 2018Article
- Long term follow-up of a family withInternational journal of ophthalmology · 2018Article
- Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.Scientific reports · 2017Article
- Cone dystrophy or macular dystrophy associated with novel autosomal dominantMolecular vision · 2017Article
- Allosteric communication pathways routed by CaScientific reports · 2016Article
- RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.Frontiers in molecular neuroscience · 2014Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo document longitudinal fundus autofluorescence (FAF) and electroretinogram (ERG) findings in a family with cone-rod dystrophy (CRD) caused by a novel missense mutation (D100G) in the GUCA1A gene.
methodsObservational case series.
resultsThree family members 26-49 years old underwent complete clinical examinations. In all patients, funduscopic findings showed intraretinal pigment migration, loss of neurosensory retinal pigment epithelium, and macular atrophy. FAF imaging revealed the presence of a progressive hyperautofluorescent ring around a hypoautofluorescent center corresponding to macular atrophy. Full-field ERGs showed a more severe loss of cone than rod function in each patient. Thirty-hertz flicker responses fell far below normal limits. Longitudinal FAF and ERG findings in one patient suggested progressive CRD. Two more advanced patients exhibited reduced rod response consistent with disease stage. Direct sequencing of the GUCA1A gene revealed a new missense mutation, p.Asp100Gly (D100G), in each patient.
conclusionPatients with autosomal dominant CRD caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG characteristics and subsequent genetic testing.
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