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
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