Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits.

Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of the enzyme N-acetylgalactosamine-4-sulfatase, responsible for the degradation of dermatan sulfate and chondroitin-4-sulfate. Therefore, there is a widespread accumulation of partially degraded glycosaminoglycans. Corneal opacification is the hallmark ocular feature in the MPS.

Perioperative suprachoroidal hemorrhage and its surgical management: a systematic review.

Purpose: Suprachoroidal hemorrhage (SCH) is a rare but severely feared sight-threatening complication of intraocular surgery, and its management remains debatable. We intended to summarize the existing surgical management options regarding perioperative SCH, describing different techniques and their respective visual outcomes.

Methods: A systematic literature search of articles published since 1st January 2011 until 31st December 2022 was performed using MEDLINE (PubMed) and Scopus.

Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.

We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel ALMS1 variant.

Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.

Background: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (). We report a case series of three female patients with OFCD syndrome with severe glaucoma.

Results: Three female patients with OFCD syndrome with different variants involving gene, in heterozygosity: a seven-years-old girl with an insertion (c.

WHEN THE PICTURE MASKS THE DIAGNOSIS - AN ATYPICAL AND SEVERE GIANT CELL ARTERITIS CASE REPORT.

Purpose: The purpose of this study was to describe an atypical and severe case of giant cell arteritis (GCA).

Methods: This was a case report description.

Results: The authors report the case of a 76-year-old man who presented with severe and progressive bilateral visual loss.

Visual impairment in mucopolysaccharidosis VI.

Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N-acetylgalactosamine 4-sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma.

Tocilizumab as a Useful Tool for Thyroid Eye Disease in Pediatric Population: A Case Report.

Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging.

Peripapillary and Subfoveal Choroidal Thickness in Retinal Vein Occlusions.

Purpose: This work aimed to longitudinally assess the peripapillary (PPCT) and subfoveal (SFCT) choroidal thickness (CT), in patients diagnosed with central (CRVO) or branch retinal vein occlusions (BRVO), correlating SFCT with central macular thickness (CMT) and PPCT with peripapillary retinal nerve fiber layer thickness (pRNFL).

Patients And Methods: This was a retrospective longitudinal study of 71 eyes from 71 patients with treatment-naïve retinal vein occlusion (24 CRVO and 40 BRVO). Spectral-domain optical coherence tomography (SD-OCT, Spectralis HRA-OCT, Heidelberg) was used to measure PPCT, SFCT, pRNFL and CMT of the affected and fellow eyes at baseline (acute phase) and at 3 and 9 months post anti-VEGF treatment.

Rhino-Orbital Mucormycosis After COVID-19 Recovery: A Case Report.

The pandemic caused by SARS-CoV-2 remains a health care concern, despite vaccination programs. Mucormycosis, especially rhino-orbital-mucormycosis, has been described as a severe complication of COVID-19. Although it has been described mostly in India and other developing countries, few cases in the western world have also been described.

The Role of Atopy in the Choroidal Profile of Keratoconus Patients.

Purpose: Although classically classified as a non-inflammatory condition, an inflammatory basis for keratoconus (KC) appears to be a growing evidence. Recently, it has been shown that KC patients have an increased choroidal thickness (CT). Among inflammatory disorders, atopy has been associated with KC development; therefore, the aim of this study was to evaluate if the increased CT in patients with KC is related to atopy.

Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features.

Background: Leber hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance. Childhood-onset disease is relatively rare and there are limited data on this important patient subgroup.

Case Presentation: We present 3 particular presentations of LHON.

Cardiac influence on mechanical ventilation time and mortality in exacerbated chronic respiratory failure patients. The role of echocardiographic parameters.

Objective: To study the influence of cardiac status on the length of mechanical ventilation, outcome and disease severity in patients admitted to an Intensive Care Unit (ICU) with exacerbation of chronic respiratory failure.

Design And Setting: A 30-month prospective study in a 14 bed ICU PATIENTS AND METHODS: Fifty nine patients were enrolled, with a mean age 74.7 +/- 9.