April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Clinical Features of Occult Macular Dystrophy in a Large Japanese Family
Author Affiliations & Notes
  • K. Tsunoda
    Laboratory of Visual Physiology, National Institute of Sensory Organs, Meguro-ku, Japan
  • T. Hatase
    Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan
  • T. Usui
    Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan
  • K. Fujinamni
    Laboratory of Visual Physiology, National Institute of Sensory Organs, Meguro-ku, Japan
  • G. Hanazono
    Laboratory of Visual Physiology, National Institute of Sensory Organs, Meguro-ku, Japan
  • K. Shinoda
    Dept. of Ophthalmology, School of Medicine, Teikyo University, Itabashi-ku, Japan
  • Y. Miyake
    Division of Orthoptics and Visual Science, Aichi Shukutoku University, Aichi, Japan
  • Footnotes
    Commercial Relationships  K. Tsunoda, None; T. Hatase, None; T. Usui, None; K. Fujinamni, None; G. Hanazono, None; K. Shinoda, None; Y. Miyake, None.
  • Footnotes
    Support  Research grants from the Ministry of Health, Labor and Welfare
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2215. doi:https://doi.org/
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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. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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).

Results: : 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.

Conclusions: : 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.

Keywords: macula/fovea • electrophysiology: clinical • clinical (human) or epidemiologic studies: natural history 
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