Search Results (3)

Background: Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by bilateral corneal opacification due to abnormal cholesterol and phospholipid deposition. Mutations in the UBIAD1 gene, identified as causative in 2007, underline the condition, although its exact pathogenesis remains unclear. Case Presentation: A 55-year-old female presented with persistent photophobia, blepharospasm, and corneal discomfort. She also reported joint pain related to rheumatoid arthritis (RA), managed with Ro-Actemra (tocilizumab). The ophthalmological evaluation revealed bilateral corneal stromal deposits resembling snowflakes, with visual acuities of 0.8 (right eye) and 0.7 (left eye). Multimodal imaging confirmed stromal hyperreflective deposits. Based on the clinical findings, SCD was diagnosed, although no genetic testing was performed. Symptomatic management with artificial tears was initiated. Discussion: This case illustrates the diagnostic challenges of SCD, particularly in the absence of corneal crystals, a hallmark feature that is not universally present. Advanced imaging techniques aided diagnosis, and the coexistence of SCD and RA highlights the need for multidisciplinary care. Treatment options remain limited, although emerging therapies targeting oxidative stress and lipid metabolism show promise. Conclusions: This case highlights the importance of integrating ophthalmological and systemic care in SCD management and underscores the need for further research to expand diagnostic and therapeutic strategies for this rare disorder. Full article

Lipid keratopathy (LK) is a rare ophthalmological condition characterized by a progressive reduction in visual acuity caused by corneal opacification due to central lipid accumulation. LK is characterized by lipid deposits, cholesterol clefts, and neovascularization (NV) leading to disruption in corneal optical quality. LK classification includes a primary and secondary form which depend on pre-existing corneal or systemic disorders and the evidence of NV. Secondary LK is typically associated with a prior occurrence of herpetic infection, such as herpes zoster keratitis. Patients with LK usually present with progressive vision loss and dense cream-colored corneal opacification. Treatment modalities include conservative and surgical approaches focused on corneal NV elimination. When evaluating corneal lipidosis, it is crucial to consider a range of differential diagnoses, including corneal arcus, Schnyder corneal dystrophy, and other corneal deposit conditions. We report a case of a 62-year-old male with herpes zoster keratitis complicated with LK. He presented with painless progressive vision loss and corneal scarring, which raised suspicion about LK diagnosis. This paper emphasizes the importance of correlating clinical and histological findings for accurate LK diagnosis. Full article

Corneal dystrophies are a group of non-inflammatory inherited disorders of the cornea. This review considers treatment options for epithelial-stromal and stromal corneal dystrophies: namely Reis–Bücklers, Thiel–Behnke, lattice, Avellino, granular, macular and Schnyder corneal dystrophies. Where there is visual reduction, treatment options may include either phototherapeutic keratectomy (PTK) or corneal transplantation. Due to the anterior location of the deposits in Reis-Bücklers and Thiel–Behnke dystrophies, PTK is considered the treatment of choice. For lattice, Avellino, granular and macular corneal dystrophies, PTK provides temporary visual improvement; however, with recurrences, repeat PTK or a corneal transplant would be needed. For Schnyder dystrophy, should treatment be required, PTK may be the preferred option due to the potential for recurrence of the disease in corneal transplantation. This review discusses the literature and evidence base for the treatment of corneal dystrophies in terms of visual outcomes and recurrence rate. Full article