About

Dr. Colleen Cebulla is a board-certified ophthalmologist and professor at The Ohio State University Wexner Medical Center, specializing in retinal diseases and ocular oncology, including the diagnosis and treatment of eye cancers and hereditary eye conditions. She leads research in ocular melanoma and retinal disease, with a focus on identifying genetic factors involved in uveal melanoma and other ocular neoplasms. Her research team has identified that over 10 percent of patients with uveal melanoma have a heritable cancer syndrome, and they have discovered a new cancer syndrome caused by mutation in the BAP1 gene. Dr. Cebulla is actively involved in research related to retinal detachments and uveal melanoma, and her work aims to define the molecular pathways involved in retinal health and disease, with the goal of developing targeted therapies to prevent and recover visual loss. She has co-authored numerous articles in reputable journals and is a member of several professional societies, including the Retina Society and the International Society of Ocular Oncology. Her clinical practice is highly rated for patient satisfaction, and she is recognized for her compassionate care, clear communication, and dedication to personalized treatment.

Research topics

• Computer Science
• Internal medicine
• Cancer research
• Medicine
• Oncology
• Dermatology
• Data science
• Surgery

Selected publications

• MIF inhibition attenuates proliferative vitreoretinopathy pathogenesis and protects the eye in preclinical model

  Biomedicine & Pharmacotherapy · 2026-01-15

  articleOpen accessSenior authorCorresponding

  Proliferative vitreoretinopathy (PVR) is the leading cause of surgical failure after rhegmatogenous retinal detachment, yet no pharmacologic treatment exists. Previously, we showed that inhibiting macrophage migration inhibitory factor (MIF)—a pleiotropic cytokine implicated in inflammation and fibrosis- protects the retinal neuron structure and function in a mouse model of retinal detachment and chick model of excitotoxic damage. In the present study, we demonstrate that inhibition of MIF provides protection from PVR both in vitro and in vivo . Vitreous samples of patients with PVR revealed markedly elevated MIF levels compared with controls. In TGFβ-cultured retinal pigment epithelial cells- an established model for in vitro PVR- MIF inhibition reduced proliferation and migration, suppressed epithelial–mesenchymal transition, and inhibited collagen contraction, key steps in PVR progression. In vivo , the clinically relevant MIF inhibitor ibudilast attenuated retinal gliosis in the retina and demonstrated a favorable safety profile in both chicks and rabbits. Most importantly, in a rabbit model of PVR, intravitreal ibudilast significantly slowed disease progression, protecting eyes from advancing to higher disease grades. These findings establish MIF as a likely target for PVR treatment and position ibudilast as a promising candidate with high translational potential. • MIF levels are markedly elevated in the vitreous of PVR patients. • MIF inhibition blocks key PVR processes: proliferation, EMT, migration, and contraction. • The MIF inhibitor, ibudilast, attenuates retinal gliosis and shows excellent safety. • Intravitreal ibudilast significantly reduces PVR severity in a rabbit model. • MIF inhibition offers a promising translational approach for PVR treatment.

  PublisherDOI

• High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome

  Journal of Neuro-Oncology · 2026-02-01

  articleOpen access

  BAP1-tumor predisposition syndrome (BAP1-TPDS) is associated with four main cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, additional cancers are found more rarely in BAP1-TPDS patients. The aim of this study was to investigate the association, clinical, and pathologic characteristics of meningioma in BAP1-TPDS. We conducted a retrospective chart review of meningiomas in two independent cohorts of patients with germline BAP1 pathogenic or likely pathogenic (P/LP) variants at The Ohio State University Wexner Medical Center and at the Memorial Sloan Kettering Cancer Center from October 1st, 2010 date to April 21st, 2025. Additionally, we conducted a literature review of meningioma case studies for individuals with germline BAP1 (P/LP) variants. In a cohort of 237 subjects with BAP1-TPDS, we identified 6.8% (16/237) with a history of meningiomas. The average age of diagnosis was 44.5 years (17–71). For patients with available pathology, 61.5% (8/13) of the tumors were grade 2/3. Patients with available tumor tissue 83.3% (5/6) showed evidence of BAP1 biallelic inactivation. Family history of meningioma was reported in 18.8% (3/16) of patients. Four cases of meningioma were identified during meningioma surveillance imaging, and five cases had recurrences after treatment. Published cases were consistent with the early age of onset, high-grade tumors, and clinical phenotype of tumors. This study provides additional evidence that high-grade brain and spinal meningiomas are part of the clinical spectrum of BAP1-TPDS. Craniospinal imaging surveillance in the BAP1-TPDS population should be considered starting around puberty, enabling early detection and management for individuals with BAP1-TPDS.

  PublisherOA PDFDOI

• “BAP1 Loss Induces Senescence and Enhances the Response to Radiation Therapy and Senolytics”

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-02-09

  articleOpen access

  Abstract Inactivating mutations in BRCA1-associated protein 1 ( BAP1 ) are observed in approximately 45% of primary and ∼85% of metastatic uveal melanoma (UM) cases and are strongly correlated with aggressive phenotypes and poor prognosis. However, the mechanistic contribution of BAP1 to tumor aggressiveness remains elusive. This study investigates the role of BAP1 loss in senescence and explores the potential therapeutic implications of targeting senescence pathway. Analysis of The Cancer Genome Atlas UM cohort revealed that BAP1-mutant tumors exhibited increased senescence pathway activity score, and elevated expression of multiple cytokines, chemokines, growth factors and matrix-remodeling enzymes related to senescence-associated secretory phase. Functional assays revealed that BAP1 loss promotes senescence hallmarks including upregulated p16, p21, and phospho-ATM proteins, increased β-gal positive cells, accumulated γH2AX foci, depleted lamin B1, and reduced PARP1 cleavage and Ki67 levels. These effects were further exacerbated following radiation exposure. Importantly, BAP1 knockdown, alone or in combination with ionizing radiation, sensitized UM cells to senolytic agents, dasatinib and quercetin. In conclusion, our findings identify BAP1 loss as a driver of senescence and suggest that BAP1 -mutant tumors may benefit from senolytics treatment.

  PublisherOA PDFDOI

• Corrigendum to “An overview of BAP1 biological functions and current therapeutics” [BBA - Reviews on Cancer 1880 (2025) 189267]

  Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · 2025-03-22 · 1 citations

  erratumOpen access
  PublisherDOI

• An overview of BAP1 biological functions and current therapeutics

  Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · 2025-01-21 · 8 citations

  reviewOpen access

  BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that was first identified in 1998. Germline loss-of-function variants in BAP1 are associated with a tumor predisposition syndrome with at least four cancers: uveal melanoma (UM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), and cutaneous melanoma (CM). Furthermore, somatic BAP1 mutations are important drivers for several cancers most notably UM, MMe, RCC, intrahepatic cholangiocarcinoma (ICC) and hepatocellular carcinoma (HCC). Emerging evidence substantiates the fundamental role of BAP1 in suppressing cancer initiation and progression by tuning DNA damage repair, apoptosis, ferroptosis, immune response, Warburg phenomenon, and metastasis. Multiple treatment strategies such as poly (ADP-ribose) polymerase (PARP) inhibitors, EZH2 inhibitors, alkylating agents, and immunotherapy have been used as potential therapies for BAP1-mutated tumors. Although these agents showed promising results in BAP1-mutated tumors in preclinical studies, the results of most clinical trials are still dismal. The objectives of this review are to summarize the current state of knowledge regarding the biological functions of BAP1, the implications of these functions in tumorigenesis, and the current progress in BAP1-targeted therapy.

  PublisherDOI

• Exceptional Response of Therapy-Resistant SF3B1 Mutant Conjunctival Melanoma to Nivolumab/LAG3 Inhibitor Relatlimab Combination Therapy: A Case Report

  Case Reports in Oncology · 2025-02-25 · 1 citations

  articleOpen access

  Introduction: Patients with conjunctival melanoma face high rates of recurrence and metastasis, leading to significant morbidity and mortality. Previous reports have shown successful responses to either anti-PD-1, anti-CTLA-4, or combination therapy for metastatic conjunctival melanoma. However, effective new treatments are needed due to inadequate disease response or adverse effects to therapy. Case Presentation: A 43-year-old male was diagnosed with right eye conjunctival melanoma and underwent resection. The melanoma was confirmed in the right lower conjunctiva, eyelid, and the right inferior parotid lymph node was positive for SF3B1 mutation-positive metastatic melanoma. The patient was started on nivolumab monotherapy, but developed local and systemic recurrence. Subsequent treatment with ipilimumab and nivolumab combination therapy had to be discontinued shortly after due to colitis. Nivolumab/relatlimab combination therapy was initiated and resulted in an exceptional response, leading to regression of the conjunctival melanoma, shrinkage of metastatic lymph nodes, and stabilization of lung disease. Conclusion: To our knowledge, this is the first reported case demonstrating nivolumab/relatlimab efficacy in treating therapy-resistant conjunctival melanoma after failing nivolumab single therapy.

  PublisherOA PDFDOI

• Multigene Panel Testing Outcomes in Patients with Uveal Melanoma: Implementation of National Guidelines

  medRxiv · 2025-12-04

  articleOpen access

  Abstract This study aimed to evaluate the outcome of germline clinical genetic testing in uveal melanoma (UM) patients who met the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing. A retrospective chart review was conducted on UM patients seen in The Ohio State University Cancer Genetics Clinic between 5/1/2021-9/19/2025. Seventy individuals underwent clinical genetic testing, primarily via large multi-gene panels. Ten UM patients, including two related individuals, had pathogenic or likely pathogenic (P/LP) variants in known cancer genes ( BAP1, BRCA1, BRCA2, MBD4, MUTYH, POT1, XRCC2) . Among unrelated individuals, the positive rate was12.9% (8/70). Excluding carrier genes, the rate was10% (7/70) Eight patients would have been missed if only tested for BAP1 per ASCO 2024 recommendations. There was no association between tumor size, stage and germline P/LP variants. In summary, NCCN guidelines are useful in the prioritization of UM patients for genetic testing. Additionally, large panel testing, rather than BAP1 single gene testing, is recommended.

  PublisherOA PDFDOI

• Ibudilast Protects Retinal Bipolar Cells From Excitotoxic Retinal Damage and Activates the <scp>mTOR</scp> Pathway

  Glia · 2025-02-06 · 1 citations

  articleOpen accessSenior authorCorresponding

  Ibudilast, an inhibitor of macrophage migration inhibitory factor (MIF) and phosphodiesterase (PDE), has been recently shown to have neuroprotective effects in a variety of neurologic diseases. We utilize a chick excitotoxic retinal damage model to investigate ibudilast's potential to protect retinal neurons. Using single cell RNA-sequencing (scRNA-seq), we find that MIF, putative MIF receptors CD74 and CD44, and several PDEs are upregulated in different retinal cells during damage. Intravitreal ibudilast is well tolerated in the eye and causes no evidence of toxicity. Ibudilast effectively protects neurons in the inner nuclear layer from NMDA-induced cell death, restores retinal layer thickness on spectral domain optical coherence tomography (SD-OCT), and preserves retinal neuron function, particularly for the ON bipolar cells, as assessed by electroretinography. PDE inhibition seems essential for ibudilast's neuroprotection, as AV1013, the analogue that lacks PDE inhibitor activity, is ineffective. scRNA-seq analysis reveals upregulation of multiple signaling pathways, including mTOR, in damaged Müller glia (MG) with ibudilast treatment compared to AV1013. Components of mTORC1 and mTORC2 are upregulated in both bipolar cells and MG with ibudilast. The mTOR inhibitor rapamycin blocked accumulation of pS6 but did not reduce TUNEL positive dying cells. Additionally, through ligand-receptor interaction analysis, crosstalk between bipolar cells and MG may be important for neuroprotection. We have identified several paracrine signaling pathways that are known to contribute to cell survival and neuroprotection and might play essential roles in ibudilast function. These findings highlight ibudilast's potential to protect inner retinal neurons during damage and show promise for future clinical translation.

  PublisherDOI

• Ocular Therapeutic Delivery and Advanced Tissue Retrieval in Adult Rats

  Journal of Visualized Experiments · 2025-05-23

  article

  Therapeutic delivery to the posterior segment of the eye, including the retina and optic nerve, is complicated by the presence of blood-brain and blood-retinal barriers. Small animal models, such as rats, are utilized for studying various ocular pathologies. While therapeutic delivery to the posterior eye is challenging, achieving it is essential for treating ocular disorders, many of which require validation in small animal models for translational relevance. Therefore, two posterior therapeutic delivery techniques are presented: intravitreal injection (IVI) and retrobulbar injection (RBI) for use in adult rats. Additionally, a method for the en bloc removal of the eyes and optic nerves is introduced for various histological and molecular analysis techniques. The dissection protocol enables full observation of the neuro-visual system while minimizing post-mortem injury to retinal and optic nerve tissues. Successful delivery of the therapeutic cyclosporine to the retina and optic nerve was achieved, with detectable concentrations observed twenty-four hours after injection using both IVI and RBI. Furthermore, en bloc retina and nerve samples were successfully extracted for full eye histological tissue analysis, facilitating comprehensive observation of the retina and the wider neuro-visual system.

  PublisherDOI

• High Frequency and Unique Subtypes of Meningioma in Patients with BAP1 Tumor Predisposition Syndrome

  medRxiv · 2025-12-04

  articleOpen access

  Abstract Background BAP1 -tumor predisposition syndrome ( BAP1 -TPDS) is associated with four main cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, there are additional cancers found more rarely in BAP1 -TPDS patients. The aim of this study was to investigate the association, clinical, and pathologic characteristics of meningioma in BAP1 -TPDS. Methods We conducted a retrospective chart review of meningiomas in two independent cohorts of patients with germline BAP1 pathogenic or likely pathogenic (P/LP) variants at The Ohio State University Wexner Medical Center and at the Memorial Sloan Kettering Cancer Center from October 1 st , 2010 date to April 21 st , 2025. Additionally, we conducted a literature review of meningioma case studies for individuals with germline BAP1 (P/LP) variants. Results In a cohort of 237 subjects with BAP1 -TPDS, we identified 6.8% (16/237) with history of meningiomas. The average age of diagnosis was 45.8 years (17-71). For patients with available pathology, 61.5% (8/13) of the tumors were grade II/III. Patients with available tumor tissue 83.3% (5/6) showed evidence of BAP1 biallelic inactivation. Family history of meningioma was reported in 18.8% (3/16) of patients. Three cases of meningioma were identified during meningioma surveillance imaging. Published cases were consistent with the early age of onset, high-grade tumors, and clinical phenotype of tumors. Conclusions This study provides additional evidence that high-grade brain and spinal meningiomas are part of the clinical spectrum of BAP1 -TPDS. Craniospinal imaging surveillance in the BAP1 -TPDS population should be considered starting around puberty, enabling early detection and management for individuals with BAP1 -TPDS. Key Points High frequency of patients in our BAP1-TPDS cohort had meningiomas (6.8%) BAP1-TPDS meningiomas had rhabdoid and papillary histologic subtypes and high WHO grades These patients were diagnosed at a younger age compared to the average population There was a female predominance of meningioma in BAP1-TPDS patients BAP1-TPDS related meningiomas are at risk for higher rates of local recurrence, particularly rhabdoid histology Importance of the Study BAP1-tumor predisposition syndrome ( BAP1 -TPDS) is a rare syndrome which is associated with four cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, our group has observed additional cancers in these patients, including meningioma. Here, we present a retrospective chart review of 16 patients with germline pathogenic BAP1 variants and meningioma, representing 6.8% of our entire cohort of BAP1 -TPDS cases. We report that BAP1-TPDS patients are at higher risk of developing high-grade meningiomas and are diagnosed at an earlier age than the general population. Three meningiomas and one meningothelial cyst were observed during surveillance imaging in asymptomatic patients. Patient and family cancer history included other BAP1 -TPDS associated cancers, but only three patients had relatives with meningioma. Our findings indicate a need for routine craniospinal imaging in BAP1 -TPDS patients, and surveillance should include patients without family history of meningioma and patients under the age of 30.

  PublisherOA PDFDOI

Recent grants

• NIH Grant K08EY022672

  NIH · $1.1M · 2018

Frequent coauthors

• Mohamed H. Abdel‐Rahman

  Assiut University

  108 shared

• Andrew D. Cherniack

  103 shared

• Hai Hu

  Fuzhou University

  84 shared

• Galen F. Gao

  79 shared

• Huihui Fan

  Huzhou Central Hospital

  76 shared

• Joshua M. Stuart

  University of California, Santa Cruz

  71 shared

• Robert Pilarski

  70 shared

• Thomas J. Giordano

  65 shared

Labs

• Ophthalmology - Retina, OphthalmologyPI

Awards & honors

• Castle Connolly list of 'America's Top Doctors'
• Best Doctor in America (2010-present)
• Top Cancer Doctors in the U.S., Newsweek (2015)