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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

European journal of human genetics : EJHG, 2003-05, Vol.11 (5), p.420-423

2003

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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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Cilioretinal Artery Territory Infarction Associated With Papilledema in a Patient With Neurofibromatosis Type 2

Journal of neuro-ophthalmology, 2016-03, Vol.36 (1), p.58-60

2016

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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

Molecular vision, 2008-10, Vol.14, p.1960-1964

2008

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Central visual disturbance associated with transient disruption of photoreceptor inner-outer segment junction

Canadian journal of ophthalmology, 2012-10, Vol.47 (5), p.e19-e20

2012

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Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan

Archives of ophthalmology (1960), 2010-01, Vol.128 (1), p.107

2010

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Further insight into West African crystalline maculopathy

Archives of ophthalmology (1960), 2009-07, Vol.127 (7), p.863

2009

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Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa

Molecular vision, 2003-04, Vol.9, p.164-170

2003

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

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

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

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

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

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

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

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

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

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

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

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

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

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

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

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

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

Cilioretinal Artery Territory Infarction Associated With Papilledema in a Patient With Neurofibromatosis Type 2

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

Central visual disturbance associated with transient disruption of photoreceptor inner-outer segment junction

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan

Further insight into West African crystalline maculopathy

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa

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