Syndromic Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.

Enhancing the Retinopathy Of Prematurity Risk Profile Through Placental Evaluation of Maternal and Fetal Vascular Malperfusion.

Purpose: To determine the independent effect of uteroplacental malperfusion on the development of retinopathy of prematurity (ROP).

Methods: This cohort study included 591 neonates with a gestational age (GA) ≤ 32 weeks or birthweight (BW) ≤ 1500 g. Clinical data was retrospectively collected and placentas were prospectively examined for maternal vascular malperfusion (e.

Early-Onset Sepsis as an Early Predictor for Retinopathy of Prematurity: A Meta-analysis.

Objective:  Neonatal sepsis has been established as a risk factor for retinopathy of prematurity (ROP) but previous meta-analyses have predominately focused on late-onset sepsis (LOS). This meta-analysis aims to explore the association between early-onset sepsis (EOS) and the risk of ROP.

Study Design:  Observational studies reporting (unadjusted) data on proven EOS in neonates with ROP were included.

Long-term results of anterior chamber iris claw intraocular lens implantation in children with ectopia lentis in Marfan syndrome.

Purpose: To report the long-term clinical and endothelial cell count (ECC) results of lensectomy with primary anterior chamber iris claw lens implantation in the eyes of patients ≤18-year-old with ectopia lentis due to Marfan syndrome.

Methods: The medical records of Marfan patients operated on at a single institution from September 2007 to August 2020, with minimum follow-up of 2 years, were reviewed retrospectively. The following data were analyzed: sex, age at surgery, indication for surgery, the position of the lens in relation to the undilated and dilated pupil, corneal endothelial cell counts (ECC), peri- and postoperative complications, pre- and postoperative best-corrected visual acuity.

Clinical and mutational characteristics of oculocutaneous albinism type 7.

The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compared them with all patients described to date in the literature.