Journal: Genetics in Medicine Open
Article Title: A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
doi: 10.1016/j.gimo.2024.101843
Figure Lengend Snippet: Clinical findings from a representative patient (JU0960). A. Multimodal retinal imaging showed a normal appearance by fundus photograph (first and second panels) and fundus autofluorescence imaging (third panel) and blurred outer retinal layer ellipsoid zone by OCT (fourth panel). B. Full-field electroretinography showed normal rod system function (DA 0.01) and combined rod and cone system functions (DA 3.0 and DA 10.0) with unrecordable cone system function (LA 3.0) and 30-Hz flicker responses (LA 3.0 flicker). C. The clinical course of visual acuity revealed that logMAR BCVA remained around 1.0 for about 15 years.
Article Snippet: We performed comprehensive ophthalmic examinations, including medical review (age at onset and chief complaint), decimal best-corrected visual acuity (BCVA), fundus photographs, fundus autofluorescence imaging using a Spectralis HRA (Heidelberg Engineering) and/or Optos 200Tx/California Ultra-Wide Field Retinal Imaging System (Optos), OCT (Spectralis, or Carl Zeiss Meditec AG), and Goldmann kinetic perimetry (Haag Streit).
Techniques: Imaging