The phenotypic spectrum of gene variants.

Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported.

ETOILE: Real-World Evidence of 24 Months of Ranibizumab 0.5 mg in Patients with Visual Impairment Due to Diabetic Macular Edema.

Purpose: To evaluate the real-world effectiveness of intravitreal ranibizumab 0.5 mg (Lucentis) in improving visual acuity (VA) in adults with decreased VA due to diabetic macular edema (DME).

Patients And Methods: Real-world prospective observational 24-month study.

Expectations and fears of patients with diabetes and macular edema treated by intravitreal injections.

Aims: Clinical outcomes of diabetic macular edema (DME) have been widely described, but data on diabetic retinopathy perceptions by diabetes patients are limited. The aim of this survey was to explore the lived experience, knowledge, fears and expectations about disease, and treatment in patients with diabetes and macular edema treated with intravitreal injections (IVTI) and to characterize patient profiles.

Methods: Cross-sectional survey including a preliminary qualitative phase (20 patients with DME, treated or treatment-naive, 5 female and 15 male, age 36-74 years) followed by a quantitative survey (116 patients treated with IVTI for DME).

Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy.

Purpose: To correlate retinal function with vascular response to flicker light in normotensive patients with diabetes without diabetic retinopathy (DR).

Methods: Twenty-eight normotensive patients with diabetes (11 with type 1, 17 with type 2) without DR and 28 sex- and age-matched healthy control subjects underwent color vision and contrast sensitivity testing, pattern, full-field, and multifocal electroretinography, and evaluation of the vascular response to flicker light with the dynamic vessel analyzer.

Results: In the patients with diabetes, electroretinogram (ERG) pattern responses, b-wave in the scotopic bright flash ERG, a-wave and b-wave in the photopic single-flash ERG, and oscillatory potential responses were significantly impaired compared with those in control subjects.

Spontaneous resolution of macular edema after panretinal photocoagulation in florid proliferative diabetic retinopathy.

Purpose: To report the evolution of diabetic macular edema (DME) after extensive panretinal photocoagulation in patients with Type 1 diabetes exhibiting florid proliferative diabetic retinopathy (FPDR).

Methods: This retrospective observational case series comprised 17 eyes of 10 consecutive patients (8 women and 2 men). All patients exhibited FPDR combined with severe DME, and all underwent panretinal photocoagulation.

Dome-shaped macula in eyes with myopic posterior staphyloma.

Purpose: To describe an unusual feature in myopic eyes responsible for visual loss, which we call a dome-shaped macula.

Design: Retrospective, observational case series.

Methods: After observing isolated cases of dome-shaped macula, we analyzed optical coherence tomography (OCT) scans of 140 highly myopic eyes present in our OCT database to find similar cases.

Full-thickness macular hole in a patient with diabetic cystoid macular oedema treated by intravitreal triamcinolone injections.

Purpose: Full-thickness macular hole associated with diabetic macular oedema is a rare feature and its pathogenesis remains incompletely elucidated. We report the occurrence of a full-thickness macular hole, documented with optical coherence tomography (OCT), in a patient with diabetic cystoid macular oedema treated by intravitreal triamcinolone injections.

Case Report: A 48-year-old woman with refractory diabetic cystoid macular oedema underwent successive intravitreal triamcinolone injections, which were followed by a progressive thinning of the neurosensory retina at the fovea, and then by a full-thickness macular hole, associated with a perifoveal posterior hyaloid detachment, visible on OCT.

Intravitreal triamcinolone acetonide for diffuse diabetic macular edema: phase 2 trial comparing 4 mg vs 2 mg.

Purpose: To prospectively compare the efficacy and safety of 4 vs 2 mg intravitreal triamcinolone acetonide (TA) injection for diabetic macular edema.

Design: Interventional case series.

Patients: Thirty-two patients with diabetic macular edema unresponsive to laser photocoagulation.

Evaluation of macular changes before and after successful retinal detachment surgery using stratus-optical coherence tomography.

Purpose: To assess preoperative and postoperative infra-clinical macular changes in macula-off retinal detachment (RD) using third-generation optical coherence tomography (OCT3).

Design: Prospective observational cohort study.

Methods: Twenty-two nonconsecutive eyes of 22 patients with macula-off RD underwent best-corrected visual acuity measurement and OCT3 scans through the fovea before and after successful surgery.

Predictive visual outcome after macula-off retinal detachment surgery using optical coherence tomography.

Purpose: To determine whether preoperative optical coherence tomography (OCT) is useful in predicting postoperative visual outcome for patients with primary macula-off rhegmatogenous retinal detachment (RD).

Methods: This prospective study included 20 nonconsecutive eyes with macula-off RD and successful reattachment of the retina. Preoperative 5-mm OCT was performed through the center of the fovea.