ABSTRACT
NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long-term administration may produce corneal opacities analogous to those in tyrosinaemia type II. We have assessed the prevalence of ocular side-effects in 11 tyrosinaemia type I patients on NTBC attending the Birmingham Children's Hospital. Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity.
Subject(s)
Corneal Opacity/chemically induced , Corneal Opacity/epidemiology , Cyclohexanones/adverse effects , Cyclohexanones/therapeutic use , Enzyme Inhibitors/adverse effects , Enzyme Inhibitors/therapeutic use , Nitrobenzoates/adverse effects , Nitrobenzoates/therapeutic use , Tyrosinemias/complications , Tyrosinemias/drug therapy , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Male , Tyrosine/bloodABSTRACT
A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former.
