Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.

Understanding the effect of single-missense mutations on protein stability is crucial for clinical decision-making and therapeutic development. The impact of these mutations on protein stability and 3D structure remains underexplored. Here, we developed a program to investigate the relationship between pathogenic mutations with protein unfolding and compared seven machine learning (ML) models to predict the clinical significance of single-missense mutations with unknown impacts, based on protein stability parameters.

Recurrent and Concurrent Prediction of Longitudinal Progression of Stargardt Atrophy and Geographic Atrophy.

Stargardt disease and age-related macular degeneration are the leading causes of blindness in the juvenile and geriatric populations, respectively. The formation of atrophic regions of the macula is a hallmark of the end-stages of both diseases. The progression of these diseases is tracked using various imaging modalities, two of the most common being fundus autofluorescence (FAF) imaging and spectral-domain optical coherence tomography (SD-OCT).

Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions.

Importance: Large language models (LLMs) like ChatGPT appear capable of performing a variety of tasks, including answering patient eye care questions, but have not yet been evaluated in direct comparison with ophthalmologists. It remains unclear whether LLM-generated advice is accurate, appropriate, and safe for eye patients.

Objective: To evaluate the quality of ophthalmology advice generated by an LLM chatbot in comparison with ophthalmologist-written advice.

Predicting near-term glaucoma progression: An artificial intelligence approach using clinical free-text notes and data from electronic health records.

Purpose: The purpose of this study was to develop a model to predict whether or not glaucoma will progress to the point of requiring surgery within the following year, using data from electronic health records (EHRs), including both structured data and free-text progress notes.

Methods: A cohort of adult glaucoma patients was identified from the EHR at Stanford University between 2008 and 2020, with data including free-text clinical notes, demographics, diagnosis codes, prior surgeries, and clinical information, including intraocular pressure, visual acuity, and central corneal thickness. Words from patients' notes were mapped to ophthalmology domain-specific neural word embeddings.

Presentation and Management of a Complex Orbital Apex Syndrome From Penetrating Mechanical Spring Hook: A Case Report.

Our case report demonstrates the management of a unique penetrating orbital injury. The intraorbital foreign body was an approximately 22 cm long metal dishwasher spring hook lodged into the left orbital apex. An ophthalmological check-up a couple of weeks following the removal surgery discerned the patient had an unprecedented case of orbital apex syndrome.

Presentation and Management of Life-threatening Lesion in Left Orbit Complicated by Granulomatosis with Polyangiitis.

We present a unique case of acute on chronic left frontal sinusitis with an orbital abscess in the left orbit complicated by granulomatosis with polyangiitis and a defect to the structure of the orbit, among the 87 year old patient's other health-related conditions. Urgent transfer to tertiary care, and diagnostic, surgical, and multidisciplinary management were necessary to achieve a favorable clinical outcome: the eye was left undamaged and no infection spread to the brain. This report also sets out to review the literature.

Ocular Involvement in Pemphigus Vulgaris Without Skin Lesions: A Case Report.

Pemphigus vulgaris (PV) is an autoimmune disorder affecting the skin and mucous membranes. The condition may be confused with a number of disorders, including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and erythema multiforme (EM), all of which are life-threatening. Immunohistological and histochemical analyses remain the optimal methods for differentiating these diseases.