Limits...
A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy.

Kim SJ, Woo SJ, Yu HG - Korean J Ophthalmol (2006)

Bottom Line: EOG was normal except in one patient.Color vision tests were also normal.Linkage analysis is required to confirm the diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

ABSTRACT

Purpose: To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD).

Methods: Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG), multifocal ERG, electro-oculography (EOG), a color vision test, and a visual field test.

Results: Visual acuity ranged from 20/200 to 20/20. Fundus findings demonstrated varying degrees of involvement ranging from drusen only to chorioretinal involvement. Central scotoma corresponded to retinal lesions in two patients. Full field ERG was normal but multifocal ERG showed decreased amplitude and delayed implicit time in the macular area. EOG was normal except in one patient. Color vision tests were also normal.

Conclusions: The phenotype of this Korean family is consistent with NCMD. Linkage analysis is required to confirm the diagnosis.

Show MeSH

Related in: MedlinePlus

The pedigree of a Korean family with macular dystrophy demonstrating the characteristics of an autosomal dominant inheritance trait.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC2908855&req=5

Figure 1: The pedigree of a Korean family with macular dystrophy demonstrating the characteristics of an autosomal dominant inheritance trait.

Mentions: Five individuals (P1, P2, P6, P7, and P8 in Fig. 1) in two generations of a Korean family were assessed. Three additional patients (P3, P4, and P5) had a history of early deterioration of visual acuity but refused to be evaluated. The five consenting subjects gave their medical history and received a full ophthalmic examination. All five underwent fundus photography, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT; Carl Zeiss Meditec Inc., Dublin, CA, USA). Color vision tests were performed using Hardy-Rand-Rittler (HRR) plates (American Optical Company, New York, NY, USA). Electrophysiological studies included full field ERG, multifocal ERG and EOG. Multifocal ERGs were recorded using the RETIscan system (Roland consult, Brandenbrug, Germany). The stimulus was presented on a 20-inch CRT monitor with a 75-Hz frame rate and consisted of an array of 103 hexagonal elements across a field subtending about 30°. Signals were amplified (gain, 106), band-pass filtered (5-100 Hz), and recorded with a sampling interval of 0.83 msec (163 per video frame). All subjects also underwent visual field tests with a Goldman perimetry or Humphrey visual field analyzer (Humphrey-Zeiss Instruments, Dublin, CA). Full ophthalmic evaluations were repeated 6 months and 1 year after the initial examination.


A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy.

Kim SJ, Woo SJ, Yu HG - Korean J Ophthalmol (2006)

The pedigree of a Korean family with macular dystrophy demonstrating the characteristics of an autosomal dominant inheritance trait.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2908855&req=5

Figure 1: The pedigree of a Korean family with macular dystrophy demonstrating the characteristics of an autosomal dominant inheritance trait.
Mentions: Five individuals (P1, P2, P6, P7, and P8 in Fig. 1) in two generations of a Korean family were assessed. Three additional patients (P3, P4, and P5) had a history of early deterioration of visual acuity but refused to be evaluated. The five consenting subjects gave their medical history and received a full ophthalmic examination. All five underwent fundus photography, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT; Carl Zeiss Meditec Inc., Dublin, CA, USA). Color vision tests were performed using Hardy-Rand-Rittler (HRR) plates (American Optical Company, New York, NY, USA). Electrophysiological studies included full field ERG, multifocal ERG and EOG. Multifocal ERGs were recorded using the RETIscan system (Roland consult, Brandenbrug, Germany). The stimulus was presented on a 20-inch CRT monitor with a 75-Hz frame rate and consisted of an array of 103 hexagonal elements across a field subtending about 30°. Signals were amplified (gain, 106), band-pass filtered (5-100 Hz), and recorded with a sampling interval of 0.83 msec (163 per video frame). All subjects also underwent visual field tests with a Goldman perimetry or Humphrey visual field analyzer (Humphrey-Zeiss Instruments, Dublin, CA). Full ophthalmic evaluations were repeated 6 months and 1 year after the initial examination.

Bottom Line: EOG was normal except in one patient.Color vision tests were also normal.Linkage analysis is required to confirm the diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

ABSTRACT

Purpose: To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD).

Methods: Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG), multifocal ERG, electro-oculography (EOG), a color vision test, and a visual field test.

Results: Visual acuity ranged from 20/200 to 20/20. Fundus findings demonstrated varying degrees of involvement ranging from drusen only to chorioretinal involvement. Central scotoma corresponded to retinal lesions in two patients. Full field ERG was normal but multifocal ERG showed decreased amplitude and delayed implicit time in the macular area. EOG was normal except in one patient. Color vision tests were also normal.

Conclusions: The phenotype of this Korean family is consistent with NCMD. Linkage analysis is required to confirm the diagnosis.

Show MeSH
Related in: MedlinePlus