Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.

: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in the cone-rod homeobox gene ( gene) in two unrelated Italian patients.

Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

. Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs.

Case report: 3D intracranial vessel wall MRI in Susac syndrome: potential relevance for diagnosis and therapeutic management.

Background: Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based on standard brain magnetic resonance imaging (MRI) sequences. Accuracy of three dimensional (3D)-vessel wall imaging (VWI) was compared to standard sequences and contrast-enhanced-3D T2-fluid attenuated inversion recovery (CE-FLAIR) to assess CNS disease activity in two cases of definite SS.

Implantation of a Small Aperture Intraocular Lens in Eyes with Irregular Corneas and Higher Order Aberrations.

Purpose: Corneal irregularities can lead to high order aberrations (HOAs) and may influence the outcomes in terms of intraocular lens (IOL) selection and visual acuity assessment. The aim of this study was to evaluate the visual acuity and satisfaction after IC-8 implants in patients characterized by corneal irregularities and HOAs who could not undergo refractive surgery due to the poor residual thickness of the cornea or other conditions such as astigmatism secondary to previous radial keratotomy.

Methods: This descriptive, retrospective cohort study was conducted on nine eyes in six patients affected by corneal irregularities and HOAs who had undergone IC-8 IOL implantation.

Efficacy and safety of Ab interno XEN gel implant after a failed filtering surgery.

To evaluate the efficacy and safety of Ab interno XEN gel stent in patients with open angle glaucoma who underwent a previous failed filtering surgery. A retrospective, observational, multi-centered and descriptive cohort study was conducted from January 2019 to February 2020 on patients with primary open angle glaucoma (POAG) who underwent XEN gel stent implant after a failed filtering surgical procedure. Main parameters evaluated were: changes in IOP measured with Goldmann applanation tonometer, number of anti-glaucomatous eye drops, postoperative complications, and necessity of further surgical procedures.