Aim: To characterise new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3rd7 (rd7) mutant mice.
Methods: Four patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to detect a possible relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining.
Results: Homozygous mutation in R311Q in NR2E3 was detected in this family. Colour photographs revealed that white dots do not correlate to hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker) and autofluorescence were colocalised to the same cells within the retina rosettes.
Conclusions: The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages were found to contain autofluorescent materials in the retinal rosettes of rd7 mice. These data are consistent with macrophage infiltration contributing to the hyperautofluorescent spots found in our patients.
Statistics from Altmetric.com
Funding Burroughs-Wellcome Program in Biomedical Sciences Fellow, Charles Culpeper Scholarship, Foundation Fighting Blindness, Hirschl Trust, Schneeweiss Stem Cell Fund, Sylvia Wright Retinal Research Trust, Joel Hoffmann Foundation, Jonas Family Fund, Crowley Research Fund, Jahnigen/Hartford/American Geriatrics Society, Eye Surgery Fund, Bernard Becker-Association of University Professors in Ophthalmology-Research to Prevent Blindness (RPB) and EY018213. NKW is supported by the Taiwan National Science Council NSC-096-2917-I-002-105 and the Chang Gung Memorial Hospital Fellowship CMRPG360571 & 360572.
Competing interests None.
Provenance and Peer review Not commissioned; externally peer reviewed.
Ethics approval Ethics approval was provided by institutional review board protocol #AAAB6560 at Columbia University.
Patient consent Obtained.