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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.

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Fundus photograph, optical coherence tomograms (OCT) and multifocal ERGs of patient with Best macular dystrophy and her normal son (A) Fundus photograph of the right eye of the proband. The fundus shows yellowish material in vitelliform cysts in the macula, (B) OCT image through the yellowish lesion of the proband shows a highly reflective spindle-shaped zone between the photoreceptor layer and retinal pigment epithelial layer, (C) Multifocal ERGs of the right eye of the patient showing reduced responses from the macular area compared with those in a normal control, (D) Fundus photograph of the right eye of a 12-year-old son. The fundus shows irregular reflex in the macula
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Figure 0001: Fundus photograph, optical coherence tomograms (OCT) and multifocal ERGs of patient with Best macular dystrophy and her normal son (A) Fundus photograph of the right eye of the proband. The fundus shows yellowish material in vitelliform cysts in the macula, (B) OCT image through the yellowish lesion of the proband shows a highly reflective spindle-shaped zone between the photoreceptor layer and retinal pigment epithelial layer, (C) Multifocal ERGs of the right eye of the patient showing reduced responses from the macular area compared with those in a normal control, (D) Fundus photograph of the right eye of a 12-year-old son. The fundus shows irregular reflex in the macula

Mentions: A 37-year-old Japanese woman was seen at Kyushu University complaining of blurred vision in her left eye. No member of her family had previously presented with or had symptoms of BMD. Her best-corrected visual acuity was 20/20 OD and 20/25 OS, and the intraocular pressures and anterior segments were normal. Fundus examination revealed typical scrambled egg-like lesions in the macula of both eyes [Figure 1A]. Optical coherence tomography (OCT; Carl Zeiss, Germany) of the yellowish lesion revealed a highly reflective, spindle-shape zone [Figure 1B]. Fluorescein angiography demonstrated hyper-fluorescence due to a window defect from the RPE atrophy, and hypo-fluorescence corresponding to the egg-like deposit from the early stage. 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). Based on the clinical findings a diagnosis of BMD was made.


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

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

Fundus photograph, optical coherence tomograms (OCT) and multifocal ERGs of patient with Best macular dystrophy and her normal son (A) Fundus photograph of the right eye of the proband. The fundus shows yellowish material in vitelliform cysts in the macula, (B) OCT image through the yellowish lesion of the proband shows a highly reflective spindle-shaped zone between the photoreceptor layer and retinal pigment epithelial layer, (C) Multifocal ERGs of the right eye of the patient showing reduced responses from the macular area compared with those in a normal control, (D) Fundus photograph of the right eye of a 12-year-old son. The fundus shows irregular reflex in the macula
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 0001: Fundus photograph, optical coherence tomograms (OCT) and multifocal ERGs of patient with Best macular dystrophy and her normal son (A) Fundus photograph of the right eye of the proband. The fundus shows yellowish material in vitelliform cysts in the macula, (B) OCT image through the yellowish lesion of the proband shows a highly reflective spindle-shaped zone between the photoreceptor layer and retinal pigment epithelial layer, (C) Multifocal ERGs of the right eye of the patient showing reduced responses from the macular area compared with those in a normal control, (D) Fundus photograph of the right eye of a 12-year-old son. The fundus shows irregular reflex in the macula
Mentions: A 37-year-old Japanese woman was seen at Kyushu University complaining of blurred vision in her left eye. No member of her family had previously presented with or had symptoms of BMD. Her best-corrected visual acuity was 20/20 OD and 20/25 OS, and the intraocular pressures and anterior segments were normal. Fundus examination revealed typical scrambled egg-like lesions in the macula of both eyes [Figure 1A]. Optical coherence tomography (OCT; Carl Zeiss, Germany) of the yellowish lesion revealed a highly reflective, spindle-shape zone [Figure 1B]. Fluorescein angiography demonstrated hyper-fluorescence due to a window defect from the RPE atrophy, and hypo-fluorescence corresponding to the egg-like deposit from the early stage. 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). Based on the clinical findings a diagnosis of BMD was made.

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.


Related in: MedlinePlus