We thank Dr Iannaccone for his interest and comments on our article, and for highlighting a number of issues, including the features of patients with extremely mild phenotypes affected by autosomal DOA1 and the diagnostic dilemmas that these patients raise.
In our recent article,2 we included 3 (3.4%) of 87 patients who had been unaware that they might be affected by DOA, despite a positive family history. In addition, we also found that 12 (14%) of 87 patients had visual acuities of 20/40 or better. Although the number of patients in each age group in Table 1 of our article2(p353) is not statistically significant, the patients with good visual acuity were roughly evenly distributed across the age spectrum. We were also able to show that 2 patients had been assessed as having normal optic discs, but were subsequently confirmed as having DOA. The condition was initially suspected in these patients when, on genetic analysis, it was found that they carried the disease-associated haplotype with polymorphic microsatellite markers from the region of chromosome 3q28-qter associated with the disease gene OPA1,3 and when subtle psychophysical abnormalities were found.
Votruba M. Clinical and Functional Features of Patients With Dominant Optic Atrophy. Arch Ophthalmol. 1999;117(2):287-288. doi: