Two Cases of Occult Macular Dystrophy in a Family.

Kim, Joo Hoon; Park, Kyu Hyung

doi:2008.49.5.858

J Korean Ophthalmol Soc > Volume 49(5); 2008 > Article

Case Report

Journal of the Korean Ophthalmological Society 2008;49(5):858-864.
DOI: https://doi.org/10.3341/jkos.2008.49.5.858 Published online May 15, 2008.

Two Cases of Occult Macular Dystrophy in a Family.

Joo Hoon Kim, Kyu Hyung Park

¹Department of Ophthalmology, Seoul National University College of Medicine Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea. jiani4@snu.ac.kr
²Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi, Korea.

한 가족에서 발생한 잠복 황반이상증 2예

김주훈¹ㆍ박규형^1,2

Department of Ophthalmology, Seoul National University College of Medicine / Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute1, Seoul, Korea / Department of Ophthalmology, Seoul National University Bundang Hospital2, Gyeonggi, Korea

Abstract

PURPOSE
We report two familial cases of occult macular dystrophy (OMD) presenting with a progressive decrease in central vision. CASE SUMMARY: Both patients exhibited a normal ophthalmologic examination including slit lamp biomicroscope, fundus examination, fluorescein angiography, and full-field electroretinogram. However, there were central visual field defects on a Humphrey static visual field test (C 24-2) and abnormal multifocal electroretinogram (mfERG) findings affecting the central portion of the test field. Foveal thinning was also observed by optical coherence tomography images in 1 case. These findings are consistent with the clinical characteristics of occult macular dystrophy, and close observation was recommended. CONCLUSIONS: OMD is a disease characterized by a reduction in central visual acuity without visible fundus abnormalities and full field ERG. It may be misdiagnosed as optic nerve disease, a central nervous system problem, non-organic visual disorder or malingering; therefore, mfERG is essential for the diagnosis of this rare type of macular dystrophy.

Key Words: Multifocal electroretinogram;Occult macular dystrophy