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VMD2 mutational analysis in a Japanese family with Best macular dystrophy.

Shiose S, Yoshida S, Ishikawa K, Ishibashi T - Oman J Ophthalmol (2009)

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

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Best macular dystrophy (BMD) is an early-onset, autosomal dominantly inherited disorder characterized by an egg yolk like yellowish macular lesion... Abnormal electrooculography (EOG) is considered a useful indicator of the disease and is used in its diagnosis... It was recently reported that mutations of the VMD2 gene is responsible for BMD... Optical coherence tomography (OCT; Carl Zeiss, Germany) of the yellowish lesion revealed a highly reflective, spindle-shape zone [Figure 1B]... Visual field, color vision tests, cone and rod ERGs were normal, but the multifocal ERGs were reduced in the macular area compared with those in a normal control [Figure 1C]... The light rise in the EOG was reduced (Arden ratio was 1.5 in the right eye and 1.3 in the left eye)... Increasing numbers of VMD2 mutations are being posted on the web-based database, and it has become easier to identify mutations responsible for BMD... The fact that the same mutation found in the mother had been reported in a Caucasian suggests that the mutation is present in different ethnic groups... Our study also demonstrated the value of molecular analysis of the VMD2 gene, which can lead to a rapid and accurate diagnosis and the exclusion of BMD... It is a viable alternative to EOG for the diagnosis of BMD, which is currently accepted as the test for an early diagnosis of BMD... However, EOG is difficult to perform in young children, and in clinics where EOG is not available, blood samples or buccal swabs can be sent to a clinic where genetic analyses can be performed.

No MeSH data available.


Sequence analysis of VMD2 (A) The arrow indicates the heterozygous mutation of C to T change at nucleotide 584 (Ala195Val), (B) No equivalent mutation is detected in the subject's son or control subjects
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Figure 0002: Sequence analysis of VMD2 (A) The arrow indicates the heterozygous mutation of C to T change at nucleotide 584 (Ala195Val), (B) No equivalent mutation is detected in the subject's son or control subjects

Mentions: After obtaining informed consent, blood was drawn, and direct sequencing[4] of all coding regions of the VMD2 gene revealed a mutation causing a C to T change at nucleotide 584 (Ala195Val) in the mother but not in her son [Figure 2]. This mutation has been reported in a Caucasian[5] in the VMD2 mutation database (http://www.uni-wuerzburg.de/humangenetics/vmd2.html). None of the other sequence alterations was detected in any of the 64 healthy, unrelated individuals without eye disease used as control subjects. Based on the molecular diagnosis, we were able to inform the mother that the possibility of her son inheriting the disease-causing mutation was very low.


VMD2 mutational analysis in a Japanese family with Best macular dystrophy.

Shiose S, Yoshida S, Ishikawa K, Ishibashi T - Oman J Ophthalmol (2009)

Sequence analysis of VMD2 (A) The arrow indicates the heterozygous mutation of C to T change at nucleotide 584 (Ala195Val), (B) No equivalent mutation is detected in the subject's son or control subjects
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2903922&req=5

Figure 0002: Sequence analysis of VMD2 (A) The arrow indicates the heterozygous mutation of C to T change at nucleotide 584 (Ala195Val), (B) No equivalent mutation is detected in the subject's son or control subjects
Mentions: After obtaining informed consent, blood was drawn, and direct sequencing[4] of all coding regions of the VMD2 gene revealed a mutation causing a C to T change at nucleotide 584 (Ala195Val) in the mother but not in her son [Figure 2]. This mutation has been reported in a Caucasian[5] in the VMD2 mutation database (http://www.uni-wuerzburg.de/humangenetics/vmd2.html). None of the other sequence alterations was detected in any of the 64 healthy, unrelated individuals without eye disease used as control subjects. Based on the molecular diagnosis, we were able to inform the mother that the possibility of her son inheriting the disease-causing mutation was very low.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Best macular dystrophy (BMD) is an early-onset, autosomal dominantly inherited disorder characterized by an egg yolk like yellowish macular lesion... Abnormal electrooculography (EOG) is considered a useful indicator of the disease and is used in its diagnosis... It was recently reported that mutations of the VMD2 gene is responsible for BMD... Optical coherence tomography (OCT; Carl Zeiss, Germany) of the yellowish lesion revealed a highly reflective, spindle-shape zone [Figure 1B]... Visual field, color vision tests, cone and rod ERGs were normal, but the multifocal ERGs were reduced in the macular area compared with those in a normal control [Figure 1C]... The light rise in the EOG was reduced (Arden ratio was 1.5 in the right eye and 1.3 in the left eye)... Increasing numbers of VMD2 mutations are being posted on the web-based database, and it has become easier to identify mutations responsible for BMD... The fact that the same mutation found in the mother had been reported in a Caucasian suggests that the mutation is present in different ethnic groups... Our study also demonstrated the value of molecular analysis of the VMD2 gene, which can lead to a rapid and accurate diagnosis and the exclusion of BMD... It is a viable alternative to EOG for the diagnosis of BMD, which is currently accepted as the test for an early diagnosis of BMD... However, EOG is difficult to perform in young children, and in clinics where EOG is not available, blood samples or buccal swabs can be sent to a clinic where genetic analyses can be performed.

No MeSH data available.