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Recent advances and future prospects in choroideremia.

Zinkernagel MS, MacLaren RE - Clin Ophthalmol (2015)

Bottom Line: Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa.Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway.This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland ; Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.

ABSTRACT
Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa. Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway. This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.

No MeSH data available.


Related in: MedlinePlus

Fundus color photographs of the right and left eye of a patient with advanced choroideremia.Note: There is a residual island of healthy tissue in the central macula and fovea (white arrows).
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f1-opth-9-2195: Fundus color photographs of the right and left eye of a patient with advanced choroideremia.Note: There is a residual island of healthy tissue in the central macula and fovea (white arrows).

Mentions: The disease is characterized by the clinical appearance of atrophy of the choroid resulting in a characteristic pale color of the fundus, originating from the translucence of the white sclera (Figure 1). In males, the condition gradually advances and starts with night blindness and eventually results in progressive loss of peripheral vision and total blindness in the late stages, although some extreme peripheral field detection may remain.2 However, disease progression is relatively slow and the fovea is generally only affected in the end stages of the disease. Therefore, patients may retain good central visual function as late as 50–70 years old.3,4


Recent advances and future prospects in choroideremia.

Zinkernagel MS, MacLaren RE - Clin Ophthalmol (2015)

Fundus color photographs of the right and left eye of a patient with advanced choroideremia.Note: There is a residual island of healthy tissue in the central macula and fovea (white arrows).
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4664510&req=5

f1-opth-9-2195: Fundus color photographs of the right and left eye of a patient with advanced choroideremia.Note: There is a residual island of healthy tissue in the central macula and fovea (white arrows).
Mentions: The disease is characterized by the clinical appearance of atrophy of the choroid resulting in a characteristic pale color of the fundus, originating from the translucence of the white sclera (Figure 1). In males, the condition gradually advances and starts with night blindness and eventually results in progressive loss of peripheral vision and total blindness in the late stages, although some extreme peripheral field detection may remain.2 However, disease progression is relatively slow and the fovea is generally only affected in the end stages of the disease. Therefore, patients may retain good central visual function as late as 50–70 years old.3,4

Bottom Line: Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa.Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway.This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland ; Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.

ABSTRACT
Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa. Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway. This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.

No MeSH data available.


Related in: MedlinePlus