To compare the clinical characteristics of inherited retinal diseases (IRDs) caused by biallelic versus monoallelic variants in the RP1, BEST1, and PROM1 genes. A total of 52 patients (26 female) with genetically confirmed IRDs were retrospectively selected from the records of the Harkness Eye Institute Clinical Coordinating Center at Columbia University Irving Medical Center. In RP1, 3 individuals with biallelic variants and 22 patients with monoallelic variants classified as pathogenic or likely pathogenic were selected. In BEST1, eight individuals with biallelic variants and nine individuals with monoallelic variants classified as either pathogenic or likely pathogenic were included. In PROM1, four individuals with biallelic variants and six patients with monoallelic variants classified as pathogenic or likely pathogenic were selected. All patients underwent multimodal retinal imaging and, when available, full-field electroretinography (ffERG). In all three genes, individuals with biallelic variants had markedly earlier disease onset and more severe phenotypes. In RP1, on SD-OCT, foveal involvement was observed in all biallelic cases (3/3, 100%) and in 4/22 (18%) monoallelic cases. In BEST1, the average age of onset in the biallelic cohort was 7.12 years, and the average age was 32.7 years in the monoallelic cohort. Four of eight (50%) patients in the biallelic group were additionally found to have widespread serous lesions outside of the central macula. This finding was not observed in the monoallelic group. Three of eight (38%) biallelic BEST1 patients had moderate reductions in their photopic flicker. All monoallelic BEST1 patients had photopic responses within the normal range. PROM1 biallelic cases showed severe functional impairment on ffERG, while most monoallelic cases retained normal responses. In the biallelic cohort, four of four (100%) of patients had severely attenuated or extinguished photopic responses. In the monoallelic PROM1 group, four of five (80%) monoallelic PROM1 patients had normal photopic responses, and P2-2 had mildly attenuated photopic responses. Individuals with biallelic variants exhibited earlier disease onset, more severe retinal degeneration, and significantly reduced retinal function compared with those with monoallelic variants. These observations highlight the role of loss-of-function mechanisms in more aggressive disease courses and underscore the importance of considering zygosity when determining prognosis and planning gene-based therapies.

Background/Objectives: Spontaneous macular hole closure is a rare phenomenon, with lamellar hole epiretinal proliferation (LHEP) frequently implicated as a potential mechanism. This study aims to analyze the presence of LHEP in patients with full-thickness macular holes (FTMHs) or lamellar macular holes (LMHs) that closed spontaneously without intervention. Methods: A retrospective longitudinal analysis of optical coherence tomography (OCT) scans was conducted for 73 patients diagnosed with FTMH or LMH in a single institution. Patients with documented spontaneous hole closure were further analyzed for the presence of LHEP, other OCT findings, and clinical characteristics. Results: Of the 73 patients, eight (11%) exhibited spontaneous closure of their macular holes. LHEP was identified in all cases, regardless of hole type (FTMH or LMH). Associated OCT features on diagnosis included VMT in one eye (13%), partial or complete posterior vitreous detachment in seven eyes (88%) and epiretinal membrane in eight eyes (100%). During hole closure, an outer nuclear layer bridge was noted in six eyes (75%). Various extents of outer retinal recovery were noted following closure. After closure, five holes (63%) remained closed without further intervention, while three (38%) reopened and required surgical intervention. Conclusions: Spontaneous macular hole closure is strongly associated with the presence of LHEP, highlighting its potential role in retinal repair mechanisms. While in most patients the spontaneous closure is permanent, surgical intervention may be necessary in cases of hole recurrence.

Purpose: Presenting a case of peripapillary retinoschisis in a patient with glaucomatous optic neuropathy that resolved after changing therapy from topical bimatoprost to timolol/dorzolamide. Methods: A 70-year-old female who presented for a second opinion for peripapillary retinoschisis in the left eye. Results: The patient’s visual acuity was 20/25 and 20/30 in the right and left eyes, respectively. Dilated fundoscopy revealed posterior vitreous detachment (PVD) of the left eye, temporal cupping with a superotemporal notch of the left optic nerve, and bilateral macular drusen and pigmentary changes of the retinal pigment epithelium (RPE). Optical coherence tomography of the macula of the left eye showed a PVD, drusen, and peripapillary retinoschisis extending to and involving the fovea. Topical prostaglandin analogue eye drop was discontinued and replaced by dorzolamide/timolol. The peripapillary retinoschisis resolved after medication change over the following 48 months and has not recurred. Conclusion: We present a case of peripapillary retinoschisis in a phakic patient that developed during treatment with a topical prostaglandin analogue. The schisis resolved after switching the prostaglandin analogue to a topical carbonic anhydrase inhibitor. We suggest that the prostaglandin may have had a role in initiating peripapillary retinoschisis associated with glaucomatous optic neuropathy and that carbonic anhydrase inhibitors are a potential treatment for this condition.

Background/Aims Patients have largely been excluded from discussions on the use of their health data in developing medical artificial intelligence (AI), despite being directly affected by its integration into care. This study assessed ophthalmology patients’ perspectives on AI to inform patient-aligned development and implementation. Methods We conducted a cross-sectional survey across ophthalmology clinics in a large academic hospital system in New York City. Consecutive patients were approached in waiting rooms by a research coordinator to maximise sociodemographic diversity and minimise bias from digital literacy or access. The survey, developed by experts in AI, ethics, ophthalmology and survey methodology, was administered via paper and Qualtrics. It addressed attitudes towards AI in clinical scenarios, willingness to share various types of personal data for AI model development and understanding of AI in ophthalmology. Results Among 403 respondents, 67% reported a low or no understanding of AI, and 71% expressed interest in learning more. Patients prioritised physician involvement and transparency. Comfort decreased with task complexity: highest for screening, lower for diagnosis and lowest for treatment/surgery. For model development, patients were more comfortable sharing de-identified optical coherence technology or lab data than facial images or genetic data. 90% felt consent was always necessary when using personal data to train AI models. Conclusions These findings highlight the need for patient education and robust data consent protocols. Implementing an opt-out system for retrospective data use may enhance trust while supporting innovation. Integrating patient perspectives into AI governance can foster trust and transparency in ophthalmology and beyond.

Introduction: The aim of the study was to report a case of chronic postoperative endophthalmitis that presented 15 years after cataract surgery. Case Presentation: A 73-year-old man presented with ocular inflammation and blurred vision. He was diagnosed with bilateral chronic uveitis by his previous providers. The patient’s ocular inflammation persisted despite multiple immunosuppressive modalities, both topical and systemic. An infectious etiology was suspected, and an intraocular lens (IOL)/Soemmering’s ring explanation surgery was performed. Specimens were sent to pathology and microbiology. Pathology and microbiology reports came back positive for Staphylococcus epidermidis from both the IOL and the capsular bag. Conclusion: To the best of our knowledge, this is a rare and unique case of culturally proven S. epidermidis postoperative endophthalmitis diagnosed 20 years after the inoculating surgery. This case demonstrates the challenges of managing a severe case of ocular inflammation and the resulting increased intraocular pressure not responding to multiple modalities of topical and systemic immunosuppressive medications.