Pupil constriction to red light was slightly reduced in patients with myopia (P = 0.02).
Dark-adapted pupil diameter was similar across all participant groups.
The (PIPR) to blue light was significantly weaker (P < 0.01) in female patients with the MYP-26 mutation.
PIPR was normal in myopic controls and an asymptomatic male carrier.
Abnormalities in L/M-cones due to the ARR3 gene mutation may contribute to pathological eye growth in MYP-26.
Malfunction of the melanopsin system in certain retinal cells is associated with symptomatic MYP-26 patients.
Simplified
PURPOSE: The purpose of this study was to evaluate (PLR) to chromatic flashes in patients with early-onset high-myopia (eoHM) without (myopic controls = M-CTRL) and with (female-limited myopia-26 = MYP-26) genetic mutations in the ARR3 gene encoding the cone arrestin.
METHODS: Participants were 26 female subjects divided into 3 groups: emmetropic controls (E-CTRL, N = 12, mean age = 28.6 ± 7.8 years) and 2 myopic (M-CTRL, N = 7, mean age = 25.7 ± 11.5 years and MYP-26, N = 7, mean age = 28.3 ± 15.4 years) groups. In addition, one hemizygous carrier and one control male subject were examined. Direct PLRs were recorded after 10-minute dark adaptation. Stimuli were 1-second red (peak wavelength = 621 nm) and blue (peak wavelength = 470 nm) flashes at photopic luminance of 250 cd/m². A 2-minute interval between the flashes was introduced. Baseline pupil diameter (BPD), peak pupil constriction (PPC), and (PIPR) were extracted from the PLR. Group comparisons were performed with ANOVAs.
RESULTS: Dark-adapted BPD was comparable among the groups, whereas PPC to the red light was slightly reduced in patients with myopia (P = 0.02). PIPR at 6 seconds elicited by the blue flash was significantly weaker (P < 0.01) in female patients with MYP-26, whereas it was normal in the M-CTRL group and the asymptomatic male carrier.
CONCLUSIONS: L/M-cone abnormalities due to ARR3 gene mutation is currently claimed to underlie the pathological eye growth in MYP-26. Our results suggest that malfunction of the melanopsin system of intrinsically photosensitive retinal ganglion cells (ipRGCs) is specific to patients with symptomatic MYP-26, and may therefore play an additional role in the pathological eye growth of MYP-26.
Key numbers
0.54 ± 0.05
Decrease in PPC
PPC to red flash in MYP-26 group
0.42 ± 0.07
Reduced PIPR6
PIPR6 to blue flash in MYP-26 group
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