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K. Tsunoda, T. Hatase, T. Usui, K. Fujinamni, G. Hanazono, K. Shinoda, Y. Miyake; Clinical Features of Occult Macular Dystrophy in a Large Japanese Family. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2215.
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Occult macular dystrophy (OMD) was first reported as an inherited macular dystrophy with normal fundus appearance. It is characterized by a progressive decline of visual acuity, normal full-field electroretinogram (ERG) and fluorescein angiography, and abnormal focal macular or multifocal ERG. Some of the clinical features of this disorder, such as heredity, age of the onset, visual acuity and appearance of the maculopathy during its course, however, are various in the number of reports. Here, we introduce a large family affected with OMD in order to identify the characteristics of this disorder.
Twelve patients (5 males and 7 females) in a single family were examined with visual acuity, visual field test, fluorescein angiography, full field ERG, focal macular or multifocal ERG and optical coherent tomography (OCT).
The age of onset ranged from 6 to 50 y/o (mean 27.5 ± 15.7) and the period during which the disease progressed ranged from 10 to 30 years (mean 14.6±7.7 years). Among 24 affected eyes in twelve patients, subjective visual disturbance was reported in 21 eyes. The current best corrected visual acuity ranged from 0.07 to 1.5. None of the patients showed abnormal appearance in the ocular fundus, except for one patient who has micro-aneurysms due to diabetes. All the patients had decreased retinal function only in the macular region, which was confirmed by visual field test and focal macular or multifocal ERG. The visual acuity in the oldest case (83 y/o, male) started to decrease at the age of twenty and remained stable since at the age of thirty without showing any degenerative changes in the macular region for the recent fifty years. Two female patients were found to have the deterioration of macular function by multifocal ERG without any subjective disturbance of vision.
Our results confirmed that the OMD in this family had a large variation in the clinical characteristics. None of the patients showed any abnormalities in the fudus appearance during its course. Affected patients with normal visual acuity may exist in a family with OMD.
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