Outcomes following cataract surgery in choroideremia

Edwards, Thomas L.; Groppe, Markus; MacLaren, Robert E.

doi:10.1038/eye.2014.326

Cited by 4 publications

(4 citation statements)

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“…117,118 Specific considerations regarding cataract treatment in CHM patients include retinal phototoxicity risk from the operating microscope, postoperative CMO and increased rates of postoperative capsular fibrosis. 119 A case series of cataract surgical outcomes did not show significant postoperative complications other than early capsular phimosis and posterior capsular opacification. Cataract surgery could be offered to CHM patients after appropriate consultation regarding risks and potential visual outcomes.…”

Section: General Supportive Measuresmentioning

confidence: 90%

“…Cataract surgery could be offered to CHM patients after appropriate consultation regarding risks and potential visual outcomes. 119 Current and future research CHM represents a genetic eye disease that has been extensively studied since its first description in 1872 and after CHM gene cloning in the 1990s. Its monogenic nature enables gene therapy approaches and future research aims to fill gaps in our knowledge and explore novel treatment strategies.…”

Section: General Supportive Measuresmentioning

confidence: 99%

“…Cataract surgery could be offered to CHM patients after appropriate consultation regarding risks and potential visual outcomes. 119…”

Section: Therapeutic Approachesmentioning

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: General Supportive Measuresmentioning

confidence: 90%

Section: General Supportive Measuresmentioning

confidence: 99%

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

2018

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“…As in the general population, there is a correlation between increased age and incidence of cataract in CHM patients [51]; those with posterior subcapsular cataract undergo cataract surgery, as needed. Cataract surgery in CHM patients does not seem to add any additional risk of intra- or early postoperative complications according to a recent case series, which is an important consideration in gene therapy as vitrectomy surgery is known to induce cataract formation [52]. …”

Section: Current Management Strategiesmentioning

confidence: 99%

Pathogenic mechanisms and the prospect of gene therapy for choroideremia

Dimopoulos¹,

Chan²,

MacLaren

et al. 2015

Expert Opinion on Orphan Drugs

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Introduction Choroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic mechanisms, have emerged that aim to prevent the progressive vision loss. Areas covered This article will review the research that has progressed incrementally over the past two decades from mapping to gene discovery, uncovering the presumed mechanisms triggering the retinopathy to preclinical testing of potential therapies. Expert opinion While still in an evaluative phase, the introduction of gene replacement as a potential therapy has been greeted with great enthusiasm by patients, advocacy groups and the medical community.

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