Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.

Purpose: This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT). Methods: Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular examination and OCT over a follow-up period of between 2 and 9.33 years (mean = 5.7 years). Foveal tomograms were qualitatively graded and were segmented for quantitative analysis: central macular thickness (CMt), outer nuclear layer thickness (ONLt), and size of the foveal hyporeflective zone (vertical HRZ thickness: HRZt and horizontal HRZ width: HRZw) were measured. Data were analyzed using linear mixed regression models. Both age and visit were included into the models, to explore the possibility that the rate of disease progression depends on patient age. Results: Fifteen of 17 patients (88%) showed longitudinal changes in retinal structure over the follow-up period. The most common patterns of progression was development of ellipsoid zone (EZ) disruption and HRZ. There was a significant increase in HRZt (P = 0.01) and HRZw (P = 0.001) between visits and no significant change in CMt and ONLt. Retinal parameters showed no difference in changes by genetic mutation (CNGA3 (n = 11), CNGB3 (n = 6)). Conclusions: This study demonstrates clear longitudinal changes in foveal structure mainly in children, but also in adults with ACHM, over a long follow-up period. The longitudinal foveal changes suggest that treatment at an earlier age should be favored.

A Modified Surgical Technique to Treat Strabismus in Complete Sixth Nerve Palsy.

INTRODUCTION: A lot of different techniques have been proposed in order to manage abduction limitation secondary to sixth nerve palsy; however, anterior segment ischemia remains a concern. The aim of this study was to evaluate the results of augmented vertical recti muscle transposition (VRT) with partial recession of medial rectus muscle (MR) for complete, chronic sixth nerve palsy, a new modified technique that could also minimize the risk for anterior segment ischemia (ASI). METHODS: In this nonrandomized 8-year (2009-2017) retrospective review, 20 patients with complete sixth nerve palsy and contracted MR were enrolled. All of them underwent augmented VRT and partial recession of the MR, following a new proposed surgical technique. Only the central part of the MR tendon and belly was recessed by 6.5 mm, leaving 1.5 mm of the upper pole and 1.5 mm of the lower pole of the muscle intact, preserving the circulation of two anterior ciliary arteries. RESULTS: Twenty patients with a mean age of 43 years (range 12-71), all unilateral cases, were enrolled in this study. The mean preoperative deviation was 64.25 ± 10.9 prism diopters (PD) base out (range 50 to 90). In 17 cases (88%), the postoperative deviation was within 10 PD of orthotropia. Two patients (10%) had residual esotropia (15 PD and 20 PD, respectively), and one patient (5%) had 10 PD of hypotropia. The mean preoperative abduction limitation of -5.9 improved to -3.1 (p < 0.0001). None of the cases presented with ASI (success rate 100%). CONCLUSION: Partial recession of the MR preserving the two anterior ciliary arteries (Kozeis modified technique) with augmented vertical recti muscle transposition is an effective procedure, with a high success rate and is probably less risky for ASI.

Full-thickness macular hole associated with congenital simple hamartoma of retinal pigment epithelium (CSHRPE).

PURPOSE: To report a unique case of congenital simple hamartoma of retinal pigment epithelium (CSHRPE) associated with full-thickness macular hole (FTMH). METHODS: A 14-year-old female with a previous diagnosis of simple hamartoma of retinal pigment epithelium in the left eye presented with a 3-week onset of reduced visual acuity in the same eye. Complete ophthalmological examination with spectral domain ocular coherence tomography (SD-OCT) and autofluorescence imaging was carried out. Results were compared with the last 4-year follow-up data. RESULTS: On examination, visual acuity in the left eye was counting fingers compared to 20/100 documented in the last follow-up. Fundoscopy revealed a nodular, heavily pigmented, circumscribed foveal mass, with 0.5 mm basal diameter and 1.1 mm thickness corresponding to the simple RPE hamartoma. Although the latter remained unchanged throughout the follow-up period, a new lesion at the inferior edge of the hamartoma was noted. SD-OCT confirmed the presence of a FTMH with no evidence of associated epiretinal membrane, vitreomacular traction or posterior vitreous detachment. After explaining the risks and benefits of vitrectomy for FTMH, the patient declined surgery. CONCLUSIONS: CSHRPE may have associated features such as feeding vessels, retinal surface wrinkling, pigmented vitreous cells, retinal exudation and vitreoretinal adhesion. The case presented herein broadens the clinical spectrum of CSHRPE and emphasizes that despite the benign nature of the lesion, which remains stable without growth, visual loss may occur, attributable to foveal traction and development of FTMH. We postulate that protrusion of the tumor into the vitreous cavity results in tissue stretching and development of anteroposterior and tangential forces which may lead to development of macular hole.

Helicoid peripapillary chorioretinal degeneration complicated by choroidal neovascularization.

PURPOSE: Helicoid peripapillary chorioretinal degeneration (HPCD) is a hereditary disease of the fundus that is characterized by atrophic chorioretinal areas that appear early in life and expand gradually from the optic disc towards the macula and the periphery. METHODS: We describe the case of an elderly man with a known diagnosis of HPCD who developed choroidal neovascular membrane (CNV) in both eyes during the course of the disease. RESULTS: The patient was treated with intravitreal injection of ranibizumab, to which he had excellent response. The CNV subsided with 2 injections in the right eye and 1 in the left. Two years after the initial diagnosis of CNV in the right eye, visual acuity was 5/10 OD and 9/10 OS. CONCLUSIONS: Helicoid peripapillary chorioretinal degeneration is rarely complicated by CNV as the fundus lacks the trigger factors that would sustain this process. Although rare, HPCD complicated by CNV can be seen bilaterally, but responds well to few ranibizumab injections.

Imaging of filtering blebs after implantation of the Ex-PRESS shunt with the use of the Visante optical coherence tomography.

AIM: To analyze the features of the filtering blebs following implantation of the Ex-PRESS glaucoma device (model P-50) with the aid of the Visante anterior segment optical coherence tomography (AS-OCT). METHODS: Five patients with open angle glaucomas were included in the study. They all underwent implantation of the Ex-PRESS device under a scleral flap. The surgical procedure was augmented with the use of mitomycin C subconjunctivally. The filtering blebs were analyzed with the Visante AS-OCT with the scans taken along the axis of the implantation of the glaucoma device. RESULTS: All filtering blebs were graded as diffuse functioning. The morphological characteristics of the blebs were similar to those of the trabeculectomy. However the use of the Ex-PRESS implant tend to form a characteristic episcleral lake at the site of the plate of the implant. CONCLUSION: The use of the Ex-PRESS implant produces filtering blebs similar to those of the trabeculectomy with the formation of a characteristic episcleral lake at the site of the plate of the implant.

Ranibizumab for the treatment of degenerative ocular conditions.

Degenerative ocular conditions, such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusions, and myopic degeneration, have become a major public health problem and a leading cause of blindness in developed countries. Anti-vascular endothelial growth factor (VEGF) drugs seem to be an effective and safe treatment for these conditions. Ranibizumab, a humanized monoclonal antibody antigen-binding fragment, which inhibits all biologically active isoforms of VEGF-A, is still the gold standard treatment for the majority of these pathological entities. In this review, we present the results of the most important clinical trials concerning the efficacy and safety of ranibizumab for the treatment of degenerative ocular conditions.