ArticleThe British journal of ophthalmology2003
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 53 citations in OpenAlex.
- Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.Investigative ophthalmology & visual science · 2026Article
- A Practical Approach to Retinal Dystrophies.Advances in experimental medicine and biology · 2025Review
- Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia.Investigative ophthalmology & visual science · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.Ophthalmology science · 2021Article
- Toward a clinical optoretinogram: a review of noninvasive, optical tests of retinal neural function.Annals of translational medicine · 2021Review
- Validating Fluorescent Chrnb4.EGFP Mouse Models for the Study of Cone Photoreceptor Degeneration.Translational vision science & technology · 2020Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Review
- Photoreceptor Structure in GNAT2-Associated Achromatopsia.Investigative ophthalmology & visual science · 2020Article
- Deep Phenotyping of PDE6C-Associated Achromatopsia.Investigative ophthalmology & visual science · 2019Article
- A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness.Investigative ophthalmology & visual science · 2019Article
- Lack of cone mediated retinal function increases susceptibility to form-deprivation myopia in mice.Experimental eye research · 2019Article
- In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.Japanese journal of ophthalmology · 2017Article
- A prospective longitudinal study of retinal structure and function in achromatopsia.Investigative ophthalmology & visual science · 2014Article
- Expression and cell localization of brain-derived neurotrophic factor and TrkB during zebrafish retinal development.Journal of anatomy · 2010Article
- [Genetic causes of hereditary cone and cone-rod dystrophies].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2009Review
- CNGA3 mutations in two United Arab Emirates families with achromatopsia.Molecular vision · 2008Article
- Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function.Experimental eye research · 2007Article
- The cone dysfunction syndromes.The British journal of ophthalmology · 2004Review
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
aimTo describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2.
methodsFive of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fundus photography, autofluorescence imaging, and detailed psychophysical testing.
resultsAll five examined patients had a history of nystagmus from infancy, photophobia, defective colour vision, and poor visual acuity. The nystagmus in three of the individuals had lessened with time. Fundus examination revealed an abnormal foveal appearance, without frank atrophy or pigmentation. Electroretinography (ERG) revealed absent ISCEV cone flicker ERGs with some preservation of responses to short wavelength stimulation. Rod ERGs showed no definite abnormality, but maximal (mixed rod-cone) response a-wave amplitudes were mildly subnormal. Rudimentary residual colour vision was detected in three individuals. There is clinical evidence of progressive visual acuity reduction in two older individuals.
conclusionMutation in the alpha-subunit of cone specific transducin (GNAT2) is characterised by an infantile onset cone dystrophy. Some affected individuals may show deterioration of visual acuity with time.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.