A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy.
OBJECTIVE
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.
Kim
Sang Jin
SJ
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Woo
Se Joon
SJ
Yu
Hyeong Gon
HG
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D041623:Tomography, Optical Coherence