Non-Familial Occult Macular Dystrophy

Abstract

Although there is little evidence that the condition observed in these patients is inherited, all reported early onset often in childhood. Previous reports by Miyake and co-workers have described Occult Macular Dystrophy condition as an inherited macular dystrophy characterized by progressive macular dysfunction. In the present series there is little historical evidence of progression or of inheritance. Based on this data, Occult Macular Dystrophy may in fact represent more than one condition with multiple etiologies. Several etiologies are considered.

Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

“…A large number of cases of OMD have been reported 7,10,19 ; however, we did not always find the same mutations in sporadic cases or in small families, which had less than three affected members. This led us to hypothesize that several independent mutations can lead to the phenotype of OMD, that is, OMD is not a single disease caused by a specific gene mutation, but may represent different diseases with similar retinal dysfunctions.…”

A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy—case report

“…Normal color vision like in our patient was detected by Lyons [8] in his series of subject with OMD but only with small scotomas (\20°). With large scotomas ([20°) color vision abnormalities were found in all patients.…”

“…OMD in children is very rare [1,2,5,6]. The best corrected visual acuity (BCVA) ranged from 0.03 (20/600) to 1.2 (20/16), mean equal to 0.2 [2,4,[6][7][8][9][10]. The BCVA below 0.1 is usually observed in patients older than 45 years.…”

“…Some patients even with normal visual acuity complained of visual disturbances, such as photophobia or abnormal color vision, or of loss of contrast sensation during prolonged periods of vision overexertion [2]. Color vision can be normal or patients show mixed, red-green or blue-yellow defects [2,8]. Visual field testing may reveal central scotomas, peripheral visual fields are intact.…”

Annular fundus autofluorescence abnormality in a case of macular dystrophy

“…One example is occult macular dystrophy (OMD) [1,2], also known as ''central cone dystrophy'' [3]. The only known objective signs of this disease are reduced focal ERGs and/or reduced amplitudes in the multifocal ERG and a reduced foveal thickness in optic coherence tomography [1,2,[4][5][6]. The fundus in early Stargardt macular dystrophy-fundus flavimaculatus (SMD-FFM) might show minor central pigment irregularities or loss of foveal reflexes only, multifocal ERG amplitudes can be reduced to a variable extent, the fluorescein angiogram might display a dark choroid, and fundus autofluorescence is altered [7][8][9].…”