Unilateral cone dysfunction with asymmetric maculopathy - Clinical features, multimodal imaging and genetic analysis of a novel phenotype

Unilateral cone dysfunction with asymmetric maculopathy - Clinical features, multimodal imaging and genetic analysis of a novel phenotype

Bibliographic Details
Main Authors:	B Poornachandra, Bharathi Bhavaharan, Sherina Thomas, Padmamalini Mahendradas, Arkasubhra Ghosh, Chaitra Jayadev, Anuprita Ghosh, Santosh G Krishna
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2020-01-01
Series:	Indian Journal of Ophthalmology
Subjects:	achromatopsia electroretinogram unilateral cone dysfunction whole exome sequencing
Online Access:	http://www.ijo.in/article.asp?issn=0301-4738;year=2020;volume=68;issue=11;spage=2501;epage=2504;aulast=Poornachandra

Similar Items

Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT
by: Emily J. Patterson, PhD, et al.
Published: (2021-09-01)

Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency
by: Zihao Yang, et al.
Published: (2024-01-01)

The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the <i>Cnga3</i>-Deficient Mouse Model of Achromatopsia
by: Mirja Koch, et al.
Published: (2020-12-01)

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia
by: Ata Bushehri, et al.
Published: (2020-07-01)

Delineating the Molecular and Phenotypic Spectrum of the <i>CNGA3</i>-Related Cone Photoreceptor Disorder in Pakistani Families
by: Sairah Yousaf, et al.
Published: (2022-03-01)

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions
by: Giulia Righetti, et al.
Published: (2021-11-01)

Eliminating Synaptic Ribbons from Rods and Cones Halves the Releasable Vesicle Pool and Slows Down Replenishment
by: Chris S. Mesnard, et al.
Published: (2022-06-01)

Genetic tool used to diagnose achromatopsia: first case report from India
by: Kumari Pritti, et al.
Published: (2023-06-01)

Electroretinographic responses to luminance and cone-isolating white noise stimuli in macaques
by: Jan Kremers, et al.
Published: (2022-07-01)

Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia
by: Caroline Chan, et al.
Published: (2023-07-01)

Cone Photoreceptor Loss in Light-Damaged Albino Rats
by: Molly C. Benthal, et al.
Published: (2022-04-01)

The Achromatic ‘Philosophical Zombie', a Syndrome of Cerebral Achromatopsia with Color Anopsognosia
by: Antonio Carota, et al.
Published: (2013-04-01)

A Case of Dengue Maculopathy with Spontaneous Recovery
by: Fiona Oi-jing Luk, et al.
Published: (2013-06-01)

An Unusual Case of Unilateral Maculopathy
by: Chloe Jennifer Shipton, et al.
Published: (2022-06-01)

Mouse Models of Achromatopsia in Addressing Temporal “Point of No Return” in Gene-Therapy
by: Nan-Kai Wang, et al.
Published: (2021-07-01)

The Inhibition of the Degrading Enzyme Fatty Acid Amide Hydrolase Alters the Activity of the Cone System in the Vervet Monkey Retina
by: Joseph Bouskila, et al.
Published: (2021-10-01)

Electrophysiological findings of Bardet–Biedl syndrome: a case series
by: Marwa A Tabl
Published: (2020-01-01)

Molecular and Clinical Characterization of <i>CNGA3</i> and <i>CNGB3</i> Genes in Brazilian Patients Affected with Achromatopsia
by: Rebeca A. S. Amaral, et al.
Published: (2023-06-01)

Achromatopsia caused by novel missense mutations in the CNGA3 gene
by: Xi-Teng Chen, et al.
Published: (2015-10-01)

AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects
by: Regine Mühlfriedel, et al.
Published: (2017-05-01)

Case of Unilateral Peripheral Cone Dysfunction
by: Yujin Mochizuki, et al.
Published: (2012-05-01)

Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
by: Barbara Molz, et al.
Published: (2022-01-01)

Age and Sex-Related Changes in Retinal Function in the Vervet Monkey
by: Catarina Micaelo-Fernandes, et al.
Published: (2022-09-01)

Ca2+ sensor synaptotagmin-1 mediates exocytosis in mammalian photoreceptors
by: Justin J Grassmeyer, et al.
Published: (2019-06-01)

Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders
by: Marina Pavlou, et al.
Published: (2021-04-01)

Color y experiencia, lenguaje y arte
by: Ana Iribas Rudín
Published: (2007-06-01)

Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies
by: Rajeshwari Patil, et al.
Published: (2017-10-01)

Long term follow-up of a family with GUCY2D dominant cone dystrophy
by: Georgios Tsokolas, et al.
Published: (2018-12-01)

Disease Progression in <i>CNGA3</i> and <i>CNGB3</i> Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
by: Manca Tekavčič Pompe, et al.
Published: (2021-08-01)

RELATIONSHIP OF TRANSVERSAL ASYMMETRIC FACE AND UNILATERAL POSTERIOR CROSSBITE
by: Indah Dwinursanty, et al.
Published: (2006-04-01)

Features of electroretinogram on rat under different color stimulation
by: Qing-Lin Cao, et al.
Published: (2014-04-01)

The d-wave of the electroretinogram of perch originates in the cone pathway
by: Milošević Milena, et al.
Published: (2006-01-01)

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia
by: Carolina Madeira, et al.
Published: (2021-09-01)

Foveal cone loss in tamoxifen maculopathy: a case report
by: Nathan Doble, et al.
Published: (2023-11-01)

Three-dimensional assessment of craniofacial parameters in subjects with cleft lip and palate: A cone-beam computed tomography study
by: Priyawati Moungkhom, et al.
Published: (2020-01-01)

Challenging a Myth and Misconception: Red-Light Vision in Rats
by: Stephanie Niklaus, et al.
Published: (2020-03-01)

Cerebral malaria induces electrophysiological and neurochemical impairment in mice retinal tissue: possible effect on glutathione and glutamatergic system
by: Karen R. H. M. Oliveira, et al.
Published: (2017-11-01)

Cone Phosphodiesterase-6γ’ Subunit Augments Cone PDE6 Holoenzyme Assembly and Stability in a Mouse Model Lacking Both Rod and Cone PDE6 Catalytic Subunits
by: Wen-Tao Deng, et al.
Published: (2018-07-01)

Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies
by: Priyalakshmi Panikker, et al.
Published: (2022-07-01)

AOSLO imaging in poppers maculopathy shows high resolution loss of central macular cones
by: Cole N. Rojas, et al.
Published: (2021-09-01)