Optical coherence tomography and fundus autofluorescence in children with infantile nystagmus syndrome and early-onset retinal dystrophy

Abstract

Background: The purpose of the study was to compare morphological retinal differences in children with infantile nystagmus syndrome (INS) and early-onset retinal dystrophies (EORD) with healthy controls in order to evaluate the diagnostic value of optical coherence tomography (OCT) and fundus autofluorescence (FAF). Material and methods: Twenty-six children (mean age 10.0 years) were ophthalmologically and electrophysiologically diagnosed as INS and EORD. Their SD-OCT and FAF imaging was prospectively performed and compared with 36 controls (mean age 7.2 years). Results: Optical coherence tomography imaging was successfully completed in 17/26 (mean age 9.7 years) and FAF in 15/26 (mean age 11.1 years) children with EORD. OCT imaging was completed in 29/36 (mean age 8.9 years) and FAF in 15/19 (mean age 8.7 years) control children. In all six children with Leber congenital amaurosis (LCA) photoreceptor layer abnormalities were seen in the peripheral retina using SD-OCT, but macular images could not be obtained. In 5/5 children with congenital stationary night blindness (CSNB) retinal thinning was found in all regions except the fovea. 2/6 children with achromatopsia showed ellipsoid zone disruption with macula thinning. In 1/1 child with blue cone monochromatism reduced macular thickness was observed. In 5/5 children with cone-rod dystrophy the outer retinal signal intensity was decreased. In 2/3 children with complete CSNB, slight foveal hypoautofluorescence was indicated. 1/4 children with achromatopsia showed a central hyperautofluorescent ring. In 1/1 child with blue cone monochromatism slight foveal hypoautofluorescence was observed. 2/7 children with cone-rod dystrophy showed a central hyperautofluorescent ring, and additionally in 1/7 a macular hypoautofluorescence in one eye and an additional patch of hyperautofluorescence centrally in the other eye were found. Conclusion: The study demonstrated OCT and FAF as a non-invasive and fast diagnostic tool that defines morphological changes in early-onset retinal dystrophies in young children with nystagmus.