Occult macular dystrophy

Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina (macula), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. 'Occult' refers to the degradation in the fundus being difficult to discern. The disorder is called 'dystrophy' instead of 'degradation' to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989. Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina (macula), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. 'Occult' refers to the degradation in the fundus being difficult to discern. The disorder is called 'dystrophy' instead of 'degradation' to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989. Symptoms entail a loss of visual acuity in both eyes, including darkened vision, ring scotoma (ring of blindness close to the center of vision), color blindness, and difficulty with bright lights. The scotoma may cause text slightly away from the center of vision to disappear; the appearance would be not be black (in early stages) but of the same color as the nearby background. Many lines of an Amsler grid would be faded or invisible to the patient. The area of invisibility on the Amsler grid spreads with time. Symptoms do not include headaches or eye pain. The loss of acuity tends to be symmetric between the eyes. OMD that is caused by mutations of the retinitis pigmentosa 1-like 1 (RP1L1) gene (OMIM 608581) is called Miyake's disease. While the mutation is dominant, OMD may manifest more strongly and earlier in children than in the parent (anticipation). However, cases have presented with no mutation to RP1L1. One study suggests that OMD arises because of two mutations arising simultaneously, one in RP1L1 and another in ABCA4. OMD is generally believed to be autosomal dominant, meaning that if you get the abnormal gene from only one parent, you can get the disease. However, this does not always seem to be the case. OMD differentiates from Stargardt macular dystrophy in which gene is mutated (RP1L1 instead of ABCA4), the process of OMD isn't a buildup of toxic lipofuscin, and Stargardt is regressive. The connection between these mutations and OMD is unclear, but cone density is significantly lower in patients with OMD compared to the general population. Use of adaptive optics to obtain high-resolution retinal images reveal abnormal changes in patients with OMD, including thinning of the foveal thickness and the outer nuclear layer and disruption of the IS/OS line and COST line. OMD returns negative results for a funduscopic inspection, fluorescein angiogram, and full-field electroretinogram (ERG), for both rod and cone components. The key to diagnosing this disorder is the multifocal ERG (mfERG), providing a single procedure for diagnosis. Onset is known to range from age 6 to 81, with about half of onsets occurring after age 65. The disorder's reduced visual acuity without visible fundus abnormalities may be misdiagnosed as optic neuritis, dominant optic atrophy, amblyopia, or nonorganic visual disorder. OMD easily differentiates from Stargardt macular dystrophy, the most common type of macular dystrophy (1 in 10,000 in the U.S.), in that the latter has an earlier presentation (usually by the teen years), has visible pisciform flecks, and gives abnormal results for fluorescein angiography and fundus autofluorescence. In contrast to OMD, the mfERG is not very helpful in diagnosing Stargardt. OMD presents negative for a full-field ERG while retinitis pigmentosa presents abnormal. Since the abnormality is not in the eye lens, the disease is not correctable with eyeglasses. Vision becomes dimmer over the course of years as the macula loses function. Eventually the patient may become legally blind. The peripheral vision field is preserved. In other words, OMD does not cause total blindness, due to the concentration of the degradation at the cone-rich (color-sensitive) region of the retina. No treatment is known to slow the progression. The speed of progression varies by case — even between donor and recipient of the mutation — and can last for 10 to 30 years.