Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Abstract
Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are...
Paper Details
Title
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Published Date
Sep 10, 2010
Volume
87
Issue
3
Pages
424 - 429
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