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

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

Review of vision screening referrals in children

Background: Childhood vision screening is aimed at the detection of reduced vision due to amblyopia, thus enabling early diagnosis and timely intervention. The purpose of the study was to review the demographics and visual parameters of children referred to the ophthalmologist at Community Health Centre Ljubljana from Slovenian community-based vision screening program and define the visual outcome after treatment in children with amblyopia. Methods: Retrospective medical records review of children referred from community-based vision screening program for further assessment. Medical records were reviewed to determine findings from ophthalmic assessments, treatment received, and visual acuity at the final visit. The main outcome measures were the cause of visual impairment and the visual acuity at the final follow-up visit. Results: From 439 children (mean age 7.3 +/- 3.7 years) referred from community-based vision screening program, 75 children (17%; mean age 5.3 +/- 2.6 years) had amblyopia and received treatment. They had amblyogenic refractive error (3.67 +/- 2.44 diopters of sphere and 1.86 +/- 1.23 diopters of astigmatism) with uncorrected visual acuity on average 0.32 +/- 0.28 logMAR in the worse eye. Visual outcomes after treatment were good with a visual acuity of 0.04 +/- 0.07 logMAR in the worse eye, 60% of them had a visual acuity of 0.00 logMAR (40/40). Conclusion: Children with amblyopia in the presented clinical sample were mostly diagnosed and treated before the school-age. These children showed significant improvement in visual acuity in the amblyopic eye

Comparison of the cycloplegic refractive measurements with handheld, table-mounted refractometers and retinoscopy in children

Background: Handheld autorefractometers are now widely used for screening refractive errors in children. The purpose of the study was to compare the refractive measurements from table-mounted, handheld autorefractometers and retinoscopy in children.  Material and methods: Measurements in children with poor visual acuity and/or strabismus were obtained with the handheld 2WIN and the table-mounted Nidek ARK-1 refractometers and retinoscopy after the instillation of 0.5% atropine. Data on the sphere, spherical equivalent (SE), and cylindrical vectors at 0 degrees (J0) and 45 degrees (J45) were analysed. Results: Data were collected from 57 children (mean age, 4.3 years ± 2.0 years). The 2WIN refractometer measure statistically significantly lower SE mean values than the Nidek ARK-1 or retinoscopy (1.67 ± 1.48 D, 2.96 ± 1.95 D, 2.92 ± 1.93 D, respectively). The 95% LOA was the narrowest for sphere, SE, J0, and J45 vector for Nidek ARK-1 refractometer and retinoscopy. The difference between the measurements of 2WIN and retinoscopy and 2WIN and Nidek ARK-1 was more pronounced in higher refractive values for sphere, SE, J0, and J45. Conclusion: The table-mounted autorefractor provided a reading more similar to that of streak retinoscopy than to that of the handheld autorefractor. The differences between the 2WIN and the other two methods were more pronounced in the higher refractive values, so careful interpretation of the autorefraction results would be advised,especially in children with higher refractive values who are at most significant risk for amblyopia