Macular Dysfunction in @entity39489 with the Frequent Mutation XXXX in the @entity11373 Gene.

@entity1 @entity227 @entity409 @entity21415 @entity16720 @entity735 @entity11373 @entity194 @entity45306 @entity74 @entity39489
Aim/Background: A 1-bp deletion ( @entity45306 ) in the @entity11373 (also known as arrestin or @entity11373 ) gene is the most frequently seen mutation in Japanese @entity1 suffering from @entity39489 , a @entity74 . We investigated macular function in a @entity1 with @entity39489 with the @entity45306 mutation. Methods: A 43-year-old Japanese male @entity1 was diagnosed with @entity39489 . The @entity1 underwent complete ophthalmic examinations, including spectral-domain optical coherence tomography and Humphrey visual field testing. Full-field electroretinograms (ff-ERG) and multifocal ERG (mf-ERG) were recorded. Mutational analysis of the @entity11373 gene was performed. Results: Corrected visual acuity was @entity735 . Funduscopy showed retinal pigment epithelium @entity194 along the vascular arcade bilaterally. The inner segment-outer segment (ISOS) boundary lines were preserved in the foveal and parafoveal areas, whereas ISOS boundary defects and thinning of the outer nuclear layer (ONL) were seen outside the preserved ISOS boundary. Humphrey testing showed significant paracentral field @entity735 . In addition to an absence of rod responses, cone and 30-Hz flicker responses were markedly reduced in ff-ERG. The central ( @entity16720 ) and paracentral ( @entity21415 ) responses with normal latencies were relatively preserved, but the outer waveforms (rings 3-5) were attenuated and prolonged in mf-ERG. The deletion mutation ( @entity45306 ) was identified homozygously. Conclusions: The reduced/delayed mf-ERG responses and @entity227 in paracentral macula areas are most likely to be correlated with ISOS boundary defects and thinning of the ONL. @entity409 can occur in @entity39489 with the @entity45306 mutation in the @entity11373 gene.
