A Korean Family with an Early-Onset Autosomal Dominant Macular Dystrophy Resembling North Carolina Macular Dystrophy.
10.3341/kjo.2006.20.4.220
- Author:
Sang Jin KIM
1
;
Se Joon WOO
;
Hyeong Gon YU
Author Information
1. Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hgonyu@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Autosomal dominant macular dystrophy;
North Carolina macular dystrophy
- MeSH:
Tomography, Optical Coherence;
Prevalence;
Phenotype;
Pedigree;
Middle Aged;
Male;
*Macular Degeneration/diagnosis/epidemiology/genetics;
Macula Lutea/*pathology;
Korea/epidemiology;
Humans;
Fundus Oculi;
Fluorescein Angiography;
Female;
Electroretinography;
Diagnosis, Differential;
Child;
Age of Onset;
Adult;
Adolescent
- From:Korean Journal of Ophthalmology
2006;20(4):220-224
- CountryRepublic of Korea
- Language:English
-
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.
