Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.
OBJECTIVE
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 Nr2e3(rd7) (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.
Wang
N-K
NK
Bernard & Shirlee Brown Glaucoma Laboratory, Edward S Harkness Eye Institute, New York 10032, USA.
Fine
H F
HF
Chang
S
S
Chou
C L
CL
Cella
W
W
Tosi
J
J
Lin
C-S
CS
Nagasaki
T
T
Tsang
S H
SH
D000818:Animals; D002648:Child; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D018507:Gene Expression Regulation, Developmental / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation / Q000235:genetics*; D057093:Orphan Nuclear Receptors; D010375:Pedigree; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics*
C403073:NR2E3 protein, human; C485736:Nr2e3 protein, mouse; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors