Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.

Purpose: To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management.

Case Description: We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.

A Case Report of with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases.

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last being those that most severely affect patients' quality of life.

From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in : A Case Report.

(PXE) is a rare autosomal recessive disease clinically characterised by early cutaneous alterations, and by late clinically relevant ocular, and cardiovascular manifestations. genetic tests are used to confirm clinical PXE diagnosis, but this strategy may be rather challenging when only one pathogenic variant is found. A next-generation sequencing approach focusing on 362 genes related to the calcification process and/or to inherited retinal diseases was performed on a patient with clinical PXE diagnosis (skin papules and laxity, angioid streaks, and atrophy) who was carrier of only one rare sequence variant.

Phenotypic Features and Genetic Findings in a Cohort of Italian Patients and Update of the Ophthalmologic Evaluation Score.

Background: (PXE) is a rare ectopic calcification genetic disease mainly caused by rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifestations, whose frequency and severity are differently reported in the literature.

Methods: A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex Index, who underwent biomolecular analyses.

Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum.

Purpose: To describe the retinal findings of patients affected by pseudoxanthoma elasticum (PXE) using a multimodal imaging approach including flood-illumination adaptive optics ophthalmoscopy (AO).

Design: Retrospective case series.

Materials And Methods: Patients affected by PXE were retrospectively studied.

[The treatment of female stress urinary incontinence (SUI) using fascia lata in a rural hospital].

Objectives: Pubovaginal sling has been the treatment of choice for female SUI over the last two years. Those made with autologous materials have demonstrated a lower rate of complications. We present our experience using autologous fascia lata.