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Macular Dystrophy, Patterned
Patterned dystrophies of the macula are clinically heterogeneous. It is common for different patterns to be seen among multiple members of a single family. They can also be different in the two eyes of the same individual. RPE changes can often be seen in the second decade of life but visual disturbances may not be noted until a decade or two later. The process is progressive and eventually macular function is severely depressed with vision in the range of 20/200. The pigmentary retinopathy occurs at the level of the RPE with the typical appearance of pigment but sometimes an accumulation of white or yellowish deposits is present. The pattern of changes may appear in a configuration resembling the wings of a butterfly, hence the name. However, vitelliform-like lesions have also been reported. Paracentral tritan color defects have been described.
Subfoveal choroidal neovascularization can occur.
While the ERG may show some diffuse photoreceptor dysfunction in the presence of normal vision, there is little to suggest a primary rod or cone abnormality. Dark adaptation is normal. Visual fields can reveal a small central scotoma and fluorescein angiography often shows window defects in the posterior pole.
No systemic disease has been linked to patterned macular dystrophy.
Pattern macular dystrophies are usually inherited as autosomal dominant conditions. Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous. Some families have mutations in the photoreceptor peripherin gene (PRPH2) at 6p21.1-cen (169150) while a locus at 5q21.2-q33.2 containing an unknown mutation has been linked to a pattern dystrophy in other families (608970).
No treatment is available for the macular disease but low vision aids should be considered for appropriate individuals.
Surveillance is useful for the detection of choroidal neovascularization and prompt treatment with ranibizumab injections can be useful in the elimination of this complication.