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

Fundus photographs of patients 6 (A, B), 7 (C, D), and 8 (E, F). There are confluent drusen-like lesions, depigmented lesions, visible large choroidal vessels, and fibrotic lesions consistent with varying degree of stage 2 North Carolina macular dystrophy.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC2908855&req=5

Figure 3: Fundus photographs of patients 6 (A, B), 7 (C, D), and 8 (E, F). There are confluent drusen-like lesions, depigmented lesions, visible large choroidal vessels, and fibrotic lesions consistent with varying degree of stage 2 North Carolina macular dystrophy.

Mentions: NCMD stage 1 - like macular changes were seen in one patient with normal visual acuity (P2) (Fig. 2). This patient had bilateral drusen in the macular area only. The right eye had confluent drusen. FA and ICGA revealed no suspicious choroidal neovascularization. OCT showed a minimally thickened retinal pigment epithelium (RPE) and choroid layer. In three patients (P6, P7, and P8), NCMD stage 2-like macular changes of varying degrees were found (Fig. 3), including confluent drusen, RPE atrophy, subretinal fibrosis, depigmentation, and pigment clumping. One patient (P1) had deep, bilateral, relatively large circumscribed excavated lesions (Fig. 4). FA and ICGA visualized choroidal vessels with loss of RPE. OCT revealed severe atrophy of the neurosensory retina and RPE (Fig. 4). Optic discs in all 5 patients showed no evidence of abnormality.


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)

Fundus photographs of patients 6 (A, B), 7 (C, D), and 8 (E, F). There are confluent drusen-like lesions, depigmented lesions, visible large choroidal vessels, and fibrotic lesions consistent with varying degree of stage 2 North Carolina macular dystrophy.
© Copyright Policy
Related In: Results  -  Collection

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

Figure 3: Fundus photographs of patients 6 (A, B), 7 (C, D), and 8 (E, F). There are confluent drusen-like lesions, depigmented lesions, visible large choroidal vessels, and fibrotic lesions consistent with varying degree of stage 2 North Carolina macular dystrophy.
Mentions: NCMD stage 1 - like macular changes were seen in one patient with normal visual acuity (P2) (Fig. 2). This patient had bilateral drusen in the macular area only. The right eye had confluent drusen. FA and ICGA revealed no suspicious choroidal neovascularization. OCT showed a minimally thickened retinal pigment epithelium (RPE) and choroid layer. In three patients (P6, P7, and P8), NCMD stage 2-like macular changes of varying degrees were found (Fig. 3), including confluent drusen, RPE atrophy, subretinal fibrosis, depigmentation, and pigment clumping. One patient (P1) had deep, bilateral, relatively large circumscribed excavated lesions (Fig. 4). FA and ICGA visualized choroidal vessels with loss of RPE. OCT revealed severe atrophy of the neurosensory retina and RPE (Fig. 4). Optic discs in all 5 patients showed no evidence of abnormality.

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