CHOROIDEREMIA: Retinal Degeneration With an Unmet Need

Mark E. Pennesi, David G. Birch, Jacque L. Duncan, Jean Bennett, Aniz Girach

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

PURPOSE: Choroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect approximately 1 in 50,000 male patients. It is characterized by progressive degeneration of the retinal pigment epithelium, choroid, and photoreceptors, resulting in visual impairment and blindness. There is an unmet need in choroideremia, because currently, there are no approved treatments available for patients with the disease. METHODS: We review the patient journey, societal impact, and emerging treatments for patients with choroideremia. RESULTS: Its relative rarity and similarities with other retinal diseases in early years mean that diagnosis of choroideremia can often be delayed. Furthermore, its impact on affected individuals, and wider society, is also likely underestimated. AAV2-mediated gene therapy is an investigational treatment that aims to replace the faulty CHM gene. Early-phase studies reported potentially important visual acuity gains and maintenance of vision in some patients, and a large Phase 3 program is now underway. CONCLUSION: Choroideremia is a disease with a significant unmet need. Interventions that can treat progression of the disease and improve visual and functional outcomes have the potential to reduce health care costs and enhance patient quality of life.

Original languageEnglish (US)
Pages (from-to)2059-2069
Number of pages11
JournalRetina (Philadelphia, Pa.)
Volume39
Issue number11
DOIs
StatePublished - Nov 1 2019

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Choroideremia
Retinal Degeneration
Retinal Dystrophies
Retinal Diseases
Investigational Therapies
Choroid
Retinal Pigment Epithelium
Vision Disorders
Blindness
Genetic Therapy
Health Care Costs
Genes
Visual Acuity
Disease Progression
Maintenance
Quality of Life
Mutation
Therapeutics

ASJC Scopus subject areas

  • Ophthalmology

Cite this

CHOROIDEREMIA : Retinal Degeneration With an Unmet Need. / Pennesi, Mark E.; Birch, David G.; Duncan, Jacque L.; Bennett, Jean; Girach, Aniz.

In: Retina (Philadelphia, Pa.), Vol. 39, No. 11, 01.11.2019, p. 2059-2069.

Research output: Contribution to journalArticle

Pennesi, ME, Birch, DG, Duncan, JL, Bennett, J & Girach, A 2019, 'CHOROIDEREMIA: Retinal Degeneration With an Unmet Need', Retina (Philadelphia, Pa.), vol. 39, no. 11, pp. 2059-2069. https://doi.org/10.1097/IAE.0000000000002553
Pennesi, Mark E. ; Birch, David G. ; Duncan, Jacque L. ; Bennett, Jean ; Girach, Aniz. / CHOROIDEREMIA : Retinal Degeneration With an Unmet Need. In: Retina (Philadelphia, Pa.). 2019 ; Vol. 39, No. 11. pp. 2059-2069.
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