Blue cone monochromasia: diagnosis, genetic counseling and optical aids

Abstract

Cone and rod functions of three blue cone monochromats (age 13-20, male) from three different families were investigated. In contrast to rod monochromats, they lack prominent nystagmus. Color matches as determined using the Nagel anomaloscope came close to those of rod monochromats but the green primary appeared slightly brighter to them. In color discrimination tests (Farnsworth-Munsell 100-hue and Panel D-15 desaturated), maximum confusion followed protan rather than scotopic axes. Measurements of spectral sensitivity revealed action spectra exclusively of blue sensitive cones, even under conditions that should isolate green- or red-sensitive cones. After 20 minutes of dark adaptation, rods determined the spectral sensitivity function. Transient tritanopia, which in normals results from the interaction between cones sensitive to short and long wavelengths, was completely absent in blue cone monochromats. Visual acuity (Snellen charts and contrast gratings) revealed values between 20/200 and 20/60. Recognition of high-spatial low-contrast gratings was improved by blue cut-off filters (Schott BG 28) and considerably worsened by yellow cut-off filters (Schott OG 510). Since alteration of visual acuity induced by cut-off filters was not found in rod monochromats, this two-filter test is a means of differentiating quickly between rod achromats and blue cone monochromats. As the mode of inheritance is autosomal recessive in rod achromats and x-linked recessive in blue cone monochromats, differential diagnosis is important for correct genetic counseling.