A new phenotype or retinal involvement in Steinert Disease: a case report.

PURPOSE: To report a case illustrating the association of Steinert Disease (SD) with peripheral retinal non-perfusion areas and epiretinal membrane. METHODS: Case report. RESULTS: A 47-year-old Caucasian female diagnosed with SD was referred for blurred vision in her right eye (RE). She presented bilateral ptosis with deficit of elevator muscle.Dilated fundus examination revealed altered macular reflex, peripheral vascular alterations, and ghost vessels bilaterally. Structural spectral domain optical coherence tomography (SD-OCT) showed an epiretinal membrane with a partial alteration of the foveal profile in the RE. Optical coherence tomography angiography (OCTA) images revealed no evidence of neovascular membrane in the macular region. Fluoresceine angiography (FA) showed retinal peripheral non perfusion areas and leakage in the late phases of the examination. CONCLUSION: Any retinal alteration should be considered during the ophthalmological examination of patients suffering from type 1 myotonic dystrophy. OCT and fluoresceine angiography should be performed evaluating the SD patient that complains about visual impairment.

Validation of the 2WIN Corneal Reflexes App in children.

PURPOSE: To test the reliability and accuracy of the 2Win Refractometer Corneal Reflexes App (CR App) in detecting manifest strabismus in pediatric patients. METHODS: Prospective study involving 167 children with suspected strabismus (mean age 7.6 years; SD = 3.0, range 2-14 years) undergoing the CR App ocular alignment assessment (Pediatric Ophthalmologist) versus the alternate cover test with prism ocular alignment assessment for distance (Orthoptist) as the gold standard. The AAPOS 2013 guidelines for the detection of manifest strabismus in primary position (> 8 PD) were used. RESULTS: Total sensitivity, specificity, PPV, and NPV for the CR App were 79.2%, 86.2%, 86.4%, and 78.9%, respectively. The overall inconclusive rate was 17.9%, but was 36.3% in children younger than 5. Sensitivity and PPV for vertical deviations were poor (33.3% and 12.5%, respectively). The accuracy of the CR App regarding the degree (in prism diopters) of manifest deviations was tested with the Wilcoxon signed rank sum test: correlation with the gold standard was good for esodeviations (p value = 0.765, not statistically significant) and poorer for exodeviations (p value = 0.056, still not statistically significant), whereas a significant difference (p value = 0.0001) was observed for vertical deviations. CONCLUSION: The CR App showed good sensitivity, specificity, PPV, and NPV for manifest strabismus > 8PD in accordance with the AAPOS 2013 guidelines; sensitivity and PPV were poor for vertical deviations. The accuracy of the CR App was good for horizontal deviations, but poor for vertical deviations. The inconclusive result rate was high in younger children.

Comparison of 2Win and plusoptiX A12R refractometers with Retinomax handheld autorefractor keratometer.

PURPOSE: To test the accuracy and validity of the 2Win and the plusoptiX A12R refractometers in detecting amblyopia risk factors. METHODS: Children were screened using both devices, using two sets of referral criteria each, and underwent complete ophthalmic examination, including cycloplegic refraction. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. Median values for the pairs of refractometers were compared using the Wilcoxon signed-rank sum test for sphere, cylinder, and power vectors J0 and J45 for axis (both eyes). RESULTS: A total of 284 eyes of 142 children (mean age, 37.9 ± 19.8 months) were included. Comparison of mean cycloplegic and manifest refractometer measurements provided statistically significant differences in both eyes. For sphere, the means were lower and for cylinder, higher for both devices, and both correlated well with the gold standard for astigmatic power vectors J0 and J45. Using referral criteria 1, the sensitivity, specificity, PPV and NPV, and inconclusive results were 67.4%, 83.7%, 87.9%, 59.4%, and 4.9%, respectively, for the 2Win, with sensitivity of 13% in the hyperopia group; 73.1%, 95.9%, 96.6%, 69.1%, and 10.6%, respectively, for the plusoptiX A12R, with a sensitivity of 33.3% in the hyperopia group. Using criteria 2, the values were 98.8%, 38.8%, 73.9%, and 95.0% (2Win) and 94.9%, 65.3%, 81.3%, and 88.9% (plusoptiX A12R). CONCLUSIONS: In manifest conditions, the accuracy of the 2Win and plusoptiX A12R refractometers is low in hyperopia and astigmatism, but the devices are well correlated with each other, and both have high specificity; sensitivity is low in hyperopia, resulting in the underestimation of hyperopic refractive error. The optional Plusoptix sensitive referral criteria seems to be appropriate for the A12R. The 2Win provided fewer inconclusive results and was preferred for use with younger and developmentally delayed children.

Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy.

PURPOSE: Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern. CASE REPORT: We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME). CONCLUSIONS: The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.