Predominance of hyperopia in patients with molecularly confirmed Best disease

Abstract

Purpose : To determine the refractive error in patients with molecularly confirmed Best disease, and to correlate the change in vitelliform lesion size on optical coherence tomography (OCT) with the change in refractive error.

Methods : This was a retrospective chart review of 117 consecutive patients with molecularly confirmed Best disease seen at the University of Iowa Hospitals and Clinics. Visual acuity and manifest refraction were recorded on multiple visits and compared to age-matched patients with Stargardt disease. A subset of patients with multiple refractions and OCT data on the same day was reviewed in order to correlate changes to central macular thickness with changes to manifest refraction.

Results : For patients with Best disease, a total of 109 right eyes and 106 left eyes met inclusion criteria. 73 patients (69%) were hyperopic. Average spherical equivalent for the right eye was +1.18 diopters (range -3.75 to +9.25) and +1.27 diopters for the left eye (range -3.00 to +8.80). The average spherical equivalent for both eyes was +1.21 diopters. For the age-matched Stargardt patients 90 patients (85%) were myopic. The average spherical equivalent for the right eye was -1.44 diopters (range -8.88 to +4.00) and -1.50 diopters for the left eye (range -6.38 to +5.00). The average spherical equivalent for both eyes was -1.47 diopters. There was a statistically significant difference in the mean spherical equivalent for the right eye, the left eye, and for both eyes between Best disease and age-matched Stargardt patients (P<0.001 for all comparisons). Changes in manifest refraction in patients with Best disease did not seem to correlate with changes in central macular thickness on OCT.

Conclusions : In our population of patients with Best disease, there is a predominance of hyperopic refractive error relative to patients with Stargardt disease. This difference may be of diagnostic value in early stage disease, especially in the absence of molecular analysis. Additional studies are needed to elucidate the structural and genetic basis for this predominance of hyperopia, which appears to be independent of vitelliform lesion size.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.