Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

Abstract

Visual prognosis is a crucial theme in the counselling of individuals affected by a progressive retinal dystrophy. Unfortunately prognostic predictions are hampered by large interindividual differences in disease courses even within well defined nosological entities. Ten patients from 8 families affected by choroideremia were studied. The clinical signs in our patients were rather uniform. Deterioration of the peripheral visual fields typically began in the second decade of life, and progressed during the following one or two decades. Esterman transformation of peripheral visual field measurements was chosen as the best single indicator of visual impairment. Noticeable age differences in residual visual fields among patients were demonstrated. The age difference between the mildest and the severest cases amounted to 25 years. One of the expectations of the exploration of disease genes, is the potential predictive value of mutation identification with regard to phenotypic variability. Different presumed causative mutations were identified. Nevertheless, all the mutations are predicted to cause premature stops during translation, resulting in a non-functional or missing protein. Consequently, the observed age variation in the photopic visual field degradation must be due to still unrecognized factors, either constitutional and/or environmental.