<p>Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy</p>

Abstract

Purpose To determine the pupil response of Best vitelliform macular dystrophy (BVMD) patients for focal blue and red light stimuli presented at 76 test points in a 16.2° visual field (VF) using a chromatic pupilloperimeter. Methods An observational study was conducted in 16 participants: 7 BVMD patients with a heterozygous BEST1 mutation and 9 similar-aged controls. All participants were tested for best-corrected visual acuity, chromatic pupilloperimetry and Humphrey perimetry. Percentage of pupil contraction (PPC), maximal pupil contraction velocity (MCV) and latency of MCV (LMCV) were determined. Results The mean PPC and MCV recorded in BVMD patients in response to red stimuli were lower by >2 standard errors (SEs) from the mean of controls in 47% and 43% of VF test points, respectively. The mean PPC and MCV recorded in the patients in response to blue stimuli were lower by >2 SEs from the mean of controls in 36% and 24% of VF test points, respectively. The patients’ mean and median MCV recorded in response to red light correlated with their Humphrey mean deviation score ( r =−0.714, P =0.071 and r =−0.821, P =0.023, respectively) and visual acuity ( r =0.709, P =0.074 and r =0.655, P =0.111, respectively). A substantially shorter mean LMCV was recorded in BVMD patients compared to controls in 54% and 93% of VF test points in response to red and blue light, respectively. Receiver operating characteristic analysis for LMCV in response to red light identified a test point at the center of the VF with high diagnostic accuracy (area under the curve of 0.94). Conclusion Chromatic pupilloperimetry may potentially be used for objective noninvasive assessment of rod and cone cell function in different locations of the retina in BVMD patients.

Chromatic Pupil Campimetry Reveals Functional Defects in Exudative Age-Related Macular Degeneration with Differences Related to Disease Activity

“…However time dynamics of the pupillary responses seem to differ characteristically. Ben Ner et al 9 reported faster pupillary responses in Best vitelliform macular dystrophy, whereas we demonstrated significantly prolonged latencies to constriction onset in the affected retina in exudative AMD ( Fig. 6 ).…”

“…Similar pupillary responses occur in macular defects caused by other etiologies, for example in Stargardt disease, or other maculopathies. Reduced pupil constriction amplitudes were recently reported in Best vitelliform macular dystrophy, 9 thus this parameter alone does not allow for an objective diagnosis or rather differentiation of AMD and Best vitelliform macular dystrophy. However time dynamics of the pupillary responses seem to differ characteristically.…”

Chromatic Pupilloperimetry Measures Correlate With Visual Acuity and Visual Field Defects in Retinitis Pigmentosa Patients

“…Light intensities were chosen based on previous studies in which presentation of small (0.43°) red light stimuli at intensity of 1000 cd/m² and blue stimuli at 170 cd/m² resulted in substantial maximal pupil contraction (≥10%) in peripheral and central VF locations in healthy subjects. 21 – 23 Those studies indicated that, under these test conditions, cones significantly contributed to the PLR for red light, and the PLR for blue light was mainly mediated by rods with cone contributions. 21 , 22 Light intensities were determined using LS-100 luminance meter (Konica Minolta, Tokyo, Japan).…”

“…Those studies indicated that cones significantly contribute to the pupil responses for focal red light stimuli, whereas pupil responses for focal blue light stimuli are mainly mediated by rods with cone contributions. 21 – 23 Low test–retest variability was demonstrated and the pupil response of patients with RP measured by chromatic pupilloperimetry in a 16° VF correlated with dark adapted chromatic Goldmann perimetry. 21 , 23 …”

“… 21 – 23 Low test–retest variability was demonstrated and the pupil response of patients with RP measured by chromatic pupilloperimetry in a 16° VF correlated with dark adapted chromatic Goldmann perimetry. 21 , 23 …”