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Paracentral acute middle maculopathy and acute macular neuroretinopathy following SARS-CoV-2 infection

Eye (London), 2020-12, Vol.34 (12), p.2352-2353

2020

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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Progress in retinal and eye research, 2021-05, Vol.82, p.100898-100898, Article 100898

2021

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Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Progress in retinal and eye research, 2016-07, Vol.53, p.70-106

2016

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Impact of the ongoing worldwide shortage of verteporfin (Visudyne®) on the visual function of patients with chronic central serous chorioretinopathy

Acta ophthalmologica (Oxford, England), 2024-02, Vol.102 (1), p.e137-e138

2024

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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

American journal of human genetics, 2013-12, Vol.93 (6), p.1143-1150

2013

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Ethnic variations in the prevalence of diabetic retinopathy in people with diabetes attending screening in the United Kingdom (DRIVE UK)

PloS one, 2012-03, Vol.7 (3), p.e32182-e32182

2012

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Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder

Documenta ophthalmologica, 2024-04, Vol.148 (2), p.115-120

2024

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Changes in visual acuity and quality of life following lens surgery in Alport syndrome

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2010-02, Vol.86 (2), p.248-253

2010

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Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

Molecular vision, 2022, Vol.28, p.48-56

2022

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2016-03, Vol.98 (3), p.592-592

2016

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A twin study of cilioretinal arteries, tilted discs and situs inversus

Graefe's archive for clinical and experimental ophthalmology, 2018-02, Vol.256 (2), p.333-340

2018

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Nature genetics, 2006-07, Vol.38 (7), p.755-757

2006

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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

American journal of human genetics, 2011-09, Vol.89 (3), p.464-473

2011

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Spectral domain optical coherence tomography findings in long-term silicone oil-related visual loss

Retina (Philadelphia, Pa.), 2015-03, Vol.35 (3), p.555-563

2015

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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Investigative ophthalmology & visual science, 2018-10, Vol.59 (12), p.4812-4820

2018

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Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype

Canadian journal of ophthalmology, 2018-08, Vol.53 (4), p.420-424

2018

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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

American journal of human genetics, 2006-05, Vol.78 (5), p.889-896

2006

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Macular spectral domain optical coherence tomography findings in Tanzanian endemic optic neuropathy

Brain (London, England : 1878), 2013-11, Vol.136 (Pt 11), p.3418-3426

2013

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Central retinal vein occlusion in an otherwise healthy child treated successfully with a single injection of bevacizumab

Journal of AAPOS, 2016-04, Vol.20 (2), p.186-187

2016

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Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Human molecular genetics, 2012-02, Vol.21 (4), p.776-783

2012

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Re: Abegg et al.: Microcystic macular edema: retrograde maculopathy caused by optic neuropathy (Ophthalmology 2014;121:142-9)

Ophthalmology (Rochester, Minn.), 2014-08, Vol.121 (8), p.e40-e40

2014

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Risk Factors for Visual Impairment in Patients with Sickle Cell Disease in London

European journal of ophthalmology, 2016-09, Vol.26 (5), p.431-435

2016

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A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

Molecular vision, 2013-11, Vol.19, p.2165-2172

2013

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Paracentral acute middle maculopathy and acute macular neuroretinopathy following SARS-CoV-2 infection

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Impact of the ongoing worldwide shortage of verteporfin (Visudyne®) on the visual function of patients with chronic central serous chorioretinopathy

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Ethnic variations in the prevalence of diabetic retinopathy in people with diabetes attending screening in the United Kingdom (DRIVE UK)

Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Changes in visual acuity and quality of life following lens surgery in Alport syndrome

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

A twin study of cilioretinal arteries, tilted discs and situs inversus

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Spectral domain optical coherence tomography findings in long-term silicone oil-related visual loss

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

Macular spectral domain optical coherence tomography findings in Tanzanian endemic optic neuropathy

Central retinal vein occlusion in an otherwise healthy child treated successfully with a single injection of bevacizumab

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Re: Abegg et al.: Microcystic macular edema: retrograde maculopathy caused by optic neuropathy (Ophthalmology 2014;121:142-9)

Risk Factors for Visual Impairment in Patients with Sickle Cell Disease in London

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

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