Foveal cone pigments and sensitivity in young patients with Usher's syndrome

Psychophysical and reflection retinal densitometric techniques were used to investigate foveal function of three patients (ages 14, 16, and 19 years) with Usher's syndrome who had good central visual acuity and, by ophthalmoscopic examination, normal foveal areas. During dark adaptation foveal sensitivity and its relation to proportion of cone pigment present were normal, but the kinetics of regeneration of the pigments were markedly abnormal. Measurements were made to consider the possibilities that the disorders of regeneration were associated with altered light-catching capacities of the patients' cone pigments, deranged transport of visual cycle substances between the retinal pigment epithelium and photoreceptors, or lingering photoproducts. None of the mechanisms fully accounted for the observed kinetics. The results suggested that abnormal kinetics of regeneration are among the earliest signs of malfunction of the foveal photoreceptor-pigment epithelial complex in some of the retinal degenerative disorders.