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.