Cone and cone-rod dystrophies

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Mitochondrion·2017

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

Clinical genetics·2016

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review.

Eye (London, England)·2015

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Eye (London, England)·2015

Congenital high myopia and central macular atrophy: a report of 3 families.

Eye (London, England)·2015

Treatment strategies for inherited optic neuropathies: past, present and future.

Eye (London, England)·2014

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Reactivation of Choroidal Neovascularization in Bilateral Punctate Inner Choroidopathy: A Case Report.

Cureus·2026

Incidence and Recovery of 15-Letter Loss of Visual Acuity in Patients With Neovascular Age-Related Macular Degeneration on Antivascular Endothelial Growth Factor Therapy.

Journal of vitreoretinal diseases·2026

Severe visual impairment as a complication of autism spectrum disorder.

Documenta ophthalmologica. Advances in ophthalmology·2026

Aqueous Humor Proteomics Reveals the Molecular Basis for Differential Treatment Responses in nAMD and pmCNV.

Investigative ophthalmology & visual science·2026

High-Resolution OCT of Retinal Vessels in Eyes with Vascular Leakage.

Ophthalmology science·2026

Dynamic changes in aqueous humor cytokines and OCTA parameters during aflibercept loading in treatment-naive neovascular age-related macular degeneration.

Frontiers in medicine·2026

Related Experiment Videos

Cone and cone-rod dystrophies

Related Concept Videos

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review.

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Congenital high myopia and central macular atrophy: a report of 3 families.

Treatment strategies for inherited optic neuropathies: past, present and future.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Reactivation of Choroidal Neovascularization in Bilateral Punctate Inner Choroidopathy: A Case Report.

Incidence and Recovery of 15-Letter Loss of Visual Acuity in Patients With Neovascular Age-Related Macular Degeneration on Antivascular Endothelial Growth Factor Therapy.

Severe visual impairment as a complication of autism spectrum disorder.

Aqueous Humor Proteomics Reveals the Molecular Basis for Differential Treatment Responses in nAMD and pmCNV.

High-Resolution OCT of Retinal Vessels in Eyes with Vascular Leakage.

Dynamic changes in aqueous humor cytokines and OCTA parameters during aflibercept loading in treatment-naive neovascular age-related macular degeneration.

Related Experiment Videos

Cone and cone-rod dystrophies

Related Concept Videos

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