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Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y - Mol. Vis. (2011)

Bottom Line: A novel c.1488delGinsATAAC mutation was detected in CHM in family 1.This study identified a novel mutation in CHM associated with CHM and its related clinical features.Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features.

Methods: Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population. Exons 1-15 of CHM were amplified by PCR and directly sequenced. Ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, visual field, optical coherence tomography, electroretinogram, and Pentacam.

Results: The affected men were hemizygous and had night blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. A novel c.1488delGinsATAAC mutation was detected in CHM in family 1. Another mutation c.1703 C>G (S558X) within exon 14 of CHM was identified in family 2, which caused the serine 558 codon (TCA) to be changed to a stop codon (TGA).

Conclusions: This study identified a novel mutation in CHM associated with CHM and its related clinical features. Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

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Related in: MedlinePlus

Fundus photographs of the right eye of the 38-year-old choroideremia-affected proband of family 1 show symmetric profound chorioretinal atrophy with preservation of the central macula. A: The fundus shows areas of retinal pigment epithelium (RPE) disruption, severe chorioretinal atrophy, loss of choriocapillaris, and bare sclera. B: Fluorescein angiography of the same affected male patient shows extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.
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f2: Fundus photographs of the right eye of the 38-year-old choroideremia-affected proband of family 1 show symmetric profound chorioretinal atrophy with preservation of the central macula. A: The fundus shows areas of retinal pigment epithelium (RPE) disruption, severe chorioretinal atrophy, loss of choriocapillaris, and bare sclera. B: Fluorescein angiography of the same affected male patient shows extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.

Mentions: The probands of family 1 and family 2 were diagnosed as having bilateral CHM. Physical examinations excluded systemic disorders in all patients. The clinical findings showed that the best-corrected visual acuity of the proband (III-2) of family 1 was 0.3 OD (LogMAR) and 0.4 OS with myopia of −2.25D OD and −1.75D OS. Unlike the normal homogeneous brown background of melanin pigment in the normal retinal pigment epithelium (RPE) and choroid, the retina of the proband showed symmetric profound chorioretinal atrophy with preservation of the central macula. A fundus photograph (Figure 2A) of the right eye of the 38-year-old CHM-affected proband of family 1 showed symmetric profound chorioretinal atrophy, areas of RPE disruption, loss of choriocapillaris, and bare sclera. Fluorescein angiography of the same affected male patient (Figure 2B) showed extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.


Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y - Mol. Vis. (2011)

Fundus photographs of the right eye of the 38-year-old choroideremia-affected proband of family 1 show symmetric profound chorioretinal atrophy with preservation of the central macula. A: The fundus shows areas of retinal pigment epithelium (RPE) disruption, severe chorioretinal atrophy, loss of choriocapillaris, and bare sclera. B: Fluorescein angiography of the same affected male patient shows extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3198496&req=5

f2: Fundus photographs of the right eye of the 38-year-old choroideremia-affected proband of family 1 show symmetric profound chorioretinal atrophy with preservation of the central macula. A: The fundus shows areas of retinal pigment epithelium (RPE) disruption, severe chorioretinal atrophy, loss of choriocapillaris, and bare sclera. B: Fluorescein angiography of the same affected male patient shows extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.
Mentions: The probands of family 1 and family 2 were diagnosed as having bilateral CHM. Physical examinations excluded systemic disorders in all patients. The clinical findings showed that the best-corrected visual acuity of the proband (III-2) of family 1 was 0.3 OD (LogMAR) and 0.4 OS with myopia of −2.25D OD and −1.75D OS. Unlike the normal homogeneous brown background of melanin pigment in the normal retinal pigment epithelium (RPE) and choroid, the retina of the proband showed symmetric profound chorioretinal atrophy with preservation of the central macula. A fundus photograph (Figure 2A) of the right eye of the 38-year-old CHM-affected proband of family 1 showed symmetric profound chorioretinal atrophy, areas of RPE disruption, loss of choriocapillaris, and bare sclera. Fluorescein angiography of the same affected male patient (Figure 2B) showed extensive chorioretinal atrophy with preservation of an island of RPE at the macular area.

Bottom Line: A novel c.1488delGinsATAAC mutation was detected in CHM in family 1.This study identified a novel mutation in CHM associated with CHM and its related clinical features.Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features.

Methods: Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population. Exons 1-15 of CHM were amplified by PCR and directly sequenced. Ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, visual field, optical coherence tomography, electroretinogram, and Pentacam.

Results: The affected men were hemizygous and had night blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. A novel c.1488delGinsATAAC mutation was detected in CHM in family 1. Another mutation c.1703 C>G (S558X) within exon 14 of CHM was identified in family 2, which caused the serine 558 codon (TCA) to be changed to a stop codon (TGA).

Conclusions: This study identified a novel mutation in CHM associated with CHM and its related clinical features. Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

Show MeSH
Related in: MedlinePlus