| Presentation preference | Oral presentation |
| Title | Bilateral diffuse uveal melanocytic proliferation with no evidence of underlying malignancy – is there a non-paraneoplastic autoimmune cause? |
| Purpose | Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a very rare disease, first reported in 1982 as a paraneoplastic condition. The pathogenesis is unclear but is thought to be due to an oncogenic stimulus causing growth of both uveal melanocytes and systemic carcinoma. The severity of clinical signs presents as a spectrum, and a primary malignancy may not be apparent at first presentation. We propose that in rare cases, there may be a non-paraneoplastic autoimmune cause for this condition. |
| Methods | We present two cases of BDUMP which have been followed-up for >5 years with no primary cancer identified, and with a history of autoimmune posterior uveitis and autoimmune systemic disease; as well as a review of the medical literature. |
| Results | Case 1 is a 60 year old female, diagnosed with birdshot chorioretinopathy 19 years ago. Case 2 is a 36 year old woman, diagnosed with ocular sarcoidosis 8 years ago. Both have Optos colour imaging from 2017 revealing extensive BDUMP which has progressed on imaging done in 2023, but maintain good visual function, with no evidence of some of the features originally described in BDUMP found on examination or on multimodal imaging in either patient. Investigation has not identified a primary malignancy in either patient. We identified 115 cases of BDUMP in the literature, 4 of which had no evidence of malignancy at 10-50 month follow up. |
| Conclusion | We hypothesise that a minority of patients with BDUMP may have a non-paraneoplastic autoimmune aetiology causing proliferation of uveal melanocytes. Whether BDUMP may be non-paraneoplastic is unknown and long term ophthalmic surveillance is needed in these patients. |
| Conflict of interest | No |
Authors 1
| Last name | RAMSEWAK |
| Initials of first name(s) | S |
| Department | Medical Eye Unit, St Thomas’ Hospital |
| City | London |
| Country | United Kingdom |
Authors 2
| Last name | Narang |
| Initials of first name(s) | U |
| Department | Medical Eye Unit, St Thomas’ Hospital |
| City | London |
| Country | United Kingdom |
Authors 3
| Last name | Riga |
| Initials of first name(s) | V |
| Department | Medical Eye Unit, St Thomas’ Hospital |
| City | London |
| Country | United Kingdom |
Authors 4
| Last name | Virgo |
| Initials of first name(s) | J |
| Department | Medical Eye Unit, St Thomas’ Hospital |
| City | London |
| Country | United Kingdom |
Authors 5
| Last name | Hay |
| Initials of first name(s) | G |
| Department | Ocular Oncology Service, Moorfields Eye Hospital |
| City | London |
| Country | United Kingdom |
Authors 6
| Last name | Braithwaite |
| Initials of first name(s) | T |
| Department | Medical Eye Unit, St Thomas’ Hospital |
| City | London |
| Country | United Kingdom |
