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Introduction: Ophthalmic vascular occlusion due to hyaluronic acid (OVOH) is a rare but devastating complication of cosmetic filler injections, often resulting in severe vision loss., Materials: The methodology involved a systematic search across PubMed, NCBI, Google Scholar, and Cochrane to investigate factors influencing central retinal artery occlusion (CRAO) caused by fillers. Searches focused on "eye vascular anatomy," "ocular physiology in response to ischemia," "components AND hyaluronic acid AND inflammation," "recovery from blindness associated with fillers," "retrobulbar technique," and "hyaluronidase degradation AND fillers." This review examines the pathophysiology, clinical presentation, and management of OVOH by synthesizing findings from case reports, clinical studies, and experimental research. It elucidates retinal vascular anatomy, HA embolization mechanisms, and treatment efficacy, highlighting the critical importance of timely intervention., Results: OVOH typically presents with rapid vision loss within minutes of HA injection, often accompanied by severe ocular pain. The primary treatment, hyaluronidase (HYAL), is most effective when administered early, although retrobulbar HYAL shows limited overall success. Factors such as ischemia duration and the presence of cilioretinal arteries significantly influence retinal survival and recovery. The review discusses the complexities of retinal hypoxia and the implications of various intervention strategies., Conclusion: Timely intervention is crucial for managing OVOH. Although retrobulbar HYAL remains a key treatment option, its effectiveness varies and necessitates optimization. Early and accurate diagnosis is essential, underscoring the need for further research to refine treatment strategies and improve outcomes for patients with retinal vascular occlusions., Level of Evidence Iv: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 ., (© 2024. Springer Science+Business Media, LLC, part of Springer Nature and International Society of Aesthetic Plastic Surgery.)

Background: Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare genetic disorders inherited in an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries also affect patients suffering from FLD. The diagnosis of FLD is based on the presence of characteristic signs and symptoms and confirmed by genetic testing., Case Presentation: We present a case of a 63-year-old man showing an altered lipid profile with low HDL cholesterol, chronic kidney disease (CKD) and corneal disorders. He was referred to genetic counseling in order to discard genetic LCAT deficiency due to decreased visual acuity caused by corneal opacity. A massive DNA sequencing was conducted using a multigene panel associated with lipid metabolism disturbances., Results and Genetic Findings: Two likely pathogenic variants in LCAT were identified and later confirmed by Sanger sequencing. Both (c.491 G > A and c.496 G > A) were missense variants that originated an amino acid substitution (164Arginine for Histidine and 166Alanine for Threonine, respectively) modifying the protein sequence and its 3D structure., Conclusions: FLD and FED sharing common biochemical features, and the existence of other diseases with similar clinical profiles underline the need for a timely differential diagnosis aiming to address patients to preventive programs and future available therapies. This case, added to the reduced number of publications previously reported regarding FLD and FED, contributes to better understanding the genetic characteristics, clinical features, and diagnosis of these syndromes.

The purpose is to describe a clinical case of orbital metastases as the presentation sign of the primary tumor, and the importance of a multidisciplinary diagnosis. A 70-year-old man attended the Ophthalmology Department referring ocular pain. Mild proptosis and a dermal lesion in the neck were noticed. Biopsy of the dermal lesion and systemic work-up were compatible with lung adenocarcinoma with metastatic dissemination. After one cycle of palliative chemotherapy, patient's medical condition worsened, and he eventually died. Although rare, orbital symptoms can be the initial clinical presentation preceding the diagnosis of the primary silent lung neoplasm. Ophthalmologist has an important role in diagnoses of metastatic orbital cancer. Involvement of the multidisciplinary team is important for diagnosis and treatment., Competing Interests: The authors have no financial disclosures., (Copyright © 2021 by S. Karger AG, Basel.)