Choroidal neovascularization secondary to choroideremia

Campos-Pavón, J.; Torres-Peña, José L.

doi:10.1016/j.oftale.2015.06.008

Cited by 7 publications

(5 citation statements)

References 5 publications

(4 reference statements)

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“…Additional ophthalmological findings in CHM include posterior subcapsular cataracts, macular oedema and choroidal neovascularization (CNV). [48][49][50] Fundus autofluorescence Fundus autofluorescence (FAF) has been shown to be a useful marker of disease progression in CHM and thus a potential outcome measure in prospective clinical trials. 51,52 FAF provides information about lipofuscin distribution with most of the signal originating from the RPE (with the photoreceptors contributing in part).…”

Section: Clinical Signs and Symptomsmentioning

confidence: 99%

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Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

2018

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Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The exact site of pathogenesis remains unclear but results in degeneration of the photoreceptors, retinal pigment epithelium and choroid. Animal and stem cell models have been used to study the molecular defects in choroideremia and test effectiveness of treatment interventions. Natural history studies of choroideremia have provided additional insight into the clinical phenotype of the condition and prepared the way for clinical trials aiming to investigate the safety and efficacy of suitable therapies. In this review, we provide a summary of the current knowledge on the genetics, pathophysiology, clinical features and therapeutic strategies that might become available for choroideremia in the future, including gene therapy, stem cell treatment and small-molecule drugs with nonsense suppression action.

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Section: Clinical Signs and Symptomsmentioning

confidence: 99%

“…Additional ophthalmological findings in CHM include posterior subcapsular cataracts, macular oedema and choroidal neovascularization (CNV). 48–50…”

Section: Clinical Diagnosismentioning

confidence: 99%

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

2018

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“…Additional ophthalmological findings in choroideremia include posterior subcapsular cataracts, macular edema, cystoid macular edema, choroidal neovascularization (CNV), and myopia [1,6,18,20].…”

Section: Clinical Symptoms and Signsmentioning

confidence: 99%

Choroideremia – A clinical insight and differential diagnosis

Nouraeinejad¹

2022

Oftalmol Zh

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Choroideremia is an X-linked recessive inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood. However, it can be confused occasionally with other conditions, especially retinitis pigmentosa due to their shared clinical manifestations. Since the management and patients' counseling differ between those conditions listed in the differential diagnosis, it is important for clinicians to come to the right diagnosis. This article is trying to make a differential diagnosis between choroideremia and other conditions based on the current knowledge of these disorders.

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“…These changes may be due to Müller glial cell activation and/or a dysfunction of the blood‐retinal barrier. Choroideremia may also exhibit, although rarely, choroidal neovascularization that is amenable to anti‐vascular endothelial growth factor therapy (Campos‐Pavón & Torres‐Peña, 2015; Chen et al, 2019; Palejwala et al, 2014).…”

Section: Phenotypic Characteristicsmentioning

confidence: 99%

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

et al. 2021

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Choroideremia is an X‐linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD, characterized by a large clinical and genetic heterogeneity, choroideremia shows a specific phenotype with causative mutations in only one gene, CHM. Ongoing gene replacement trials raise further interests in this disorder. We describe here the clinical and genetic data from a French cohort of 45 families, 25 of which carry novel variants, in the context of 822 previously reported choroideremia families. Most of the variants represent loss‐of‐function mutations with eleven families having large (i.e. ≥6 kb) genomic deletions, 18 small insertions, deletions or insertion deletions, six showing nonsense variants, eight splice site variants and two missense variants likely to affect splicing. Similarly, 822 previously published families carry mostly loss‐of‐function variants. Recurrent variants are observed worldwide, some of which linked to a common ancestor, others arisen independently in specific CHM regions prone to mutations. Since all exons of CHM may harbor variants, Sanger sequencing combined with quantitative polymerase chain reaction or multiplex ligation‐dependent probe amplification experiments are efficient to achieve the molecular diagnosis in patients with typical choroideremia features.

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Choroidal neovascularization secondary to choroideremia

Cited by 7 publications

References 5 publications

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Choroideremia – A clinical insight and differential diagnosis

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

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