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

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.

Fig. 1

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

Fig. 2

Fundus photographs of patient 2. There are multiple fine drusen-like lesions in the macular area consistent with stage 1 North Carolina macular dystrophy.

Fig. 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.

Fig. 4

Fundus photographs of patient 1 (A, B) showing large chorioretinal atrophic lesions with visible choroidal vessels. Multifocal ERG (C) shows abnormal responses in the macular area and normal responses outside the lesion. OCT (D) indicates extensive macular atrophy.