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Chromatic and Luminance Contrast Sensitivities in Asymptomatic Carriers from a Large Brazilian Pedigree of 11778 Leber Hereditary Optic Neuropathy

¹From the Department of Experimental Psychology, University of São Paulo, São Paulo, Brazil; ²Keck School of Medicine, University of Southern California, Los Angeles, California; ³University of Bologna, Bologna, Italy; ⁴Federal University of São Paulo, São Paulo, Brazil; ⁵Ospedale S. Giovanni Evangelista, Tivoli, Roma, Italy; and ⁶Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy.

PURPOSE. To determine whether asymptomatic 11778 LHON carriers demonstrated impairments in (1) chromatic red/green (R/G) and blue/yellow (B/Y) contrast sensitivity functions (CSF) and in (2) luminance contrast sensitivity functions in the spatial CSF (SCSF) and temporal CSF (TCSF) domains.

METHODS. Twenty-five carriers (8 male, 17 female; 34.1 ± 15.1 years of age) of homoplasmic 11778 LHON from the same well-described family and 30 age-matched controls (17 male, 13 female; 29.2 ± 7.1 years of age) were tested in one eye, randomly selected. Of the 25 eyes tested, 18 had normal fundus, 5 had swelling and microangiopathy, and 2 had temporal pallor. The R/G and B/Y CSFs were obtained after equiluminance correction with bichromatic horizontal sinusoidal gratings at 0.3, 0.7, and 2 cycles per degree (cpd); the SCSFs were obtained with achromatic gratings at 0.3, 2, 6, and 12 cpd; and the TCSFs were obtained at 2, 10, 20, and 33 Hz with sinusoidal modulation of a 2.7° field with a superimposed spatial Gabor function.

RESULTS. Differences between carriers and controls were statistically significant for all spatial frequencies of chromatic and luminance SCSFs, but not for the TCSFs. R/G equiluminance settings of carriers differed from those of controls (P < 0.001), requiring higher luminance in the green; B/Y equiluminance settings were not statistically different in carriers and controls. Fundus findings did not correlate with CS results.

CONCLUSIONS. Luminance and chromatic spatial CS losses that affected all tested spatial frequencies, are reported in LHON asymptomatic carriers with the mtDNA 11778 mutation. No losses were found in the temporal CSF. An intriguing finding is that the blue system is substantially spared in this LHON family. These represent subclinical visual impairments in otherwise asymptomatic LHON carriers.

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