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Despite being the most common primary intraocular malignancy, uveal melanoma is rare, with an incidence of only eight per million per year.1 Familial cases account for only 0.6% of patients.2 We report two members of the same family who were both independently found to have choroidal melanoma on the same day.
CASE 1
A healthy 45 year old woman presented to her general practitioner with a 1 month history of photopsia and visual field defect. She was found to have a choroidal tumour in the right eye and referred to a general ophthalmologist, who she saw on 11 November 1999. The diagnosis of choroidal melanoma was confirmed and she was referred to our clinic, where she was seen on 22 November 1999. At our clinic the visual acuity was 6/9 with the right eye and 6/5 with the left eye. Both anterior segments and the left fundus were normal. The right fundus showed a superotemporal pigmented choroidal melanoma with a collar stud configuration and extending within two disc diameters of the fovea (Fig 1). It measured 12.2 mm in diameter and was 5.1 mm thick. The patient was treated with proton beam radiotherapy.
Patient 1. Fundus photograph of right eye. A choroidal melanoma was observed superotemporal to the macula.
CASE 2
On 7 November 1999, the patient’s 65 year old mother presented to her general practitioner in a different city with a 2 week history of blurred vision in the right eye. She was referred to her primary ophthalmologist who she saw on 11 November 1999, then to our clinic where she was given an appointment on 22 November 1999. Our assessment showed that the visual acuity was 6/36 with the right eye and 6/12+ with the left eye. Both anterior segments and the left fundus were normal. There was a pigmented choroidal tumour inferonasally extending from the disc to the ciliary body, measuring 19.2 mm in diameter and 6.0 mm in thickness (Fig 2). The patient was treated by enucleation.
Patient 2. Fundus photograph of the right eye. A choroidal melanoma was observed inferonasal to the optic nerve.
Neither patient had a history of cutaneous melanoma or atypical naevi, nor could they recall any relevant family history of ocular or other disease. The mother’s only sibling and three of four of the daughter’s siblings have had a normal ocular examination elsewhere.
COMMENT
We report on the simultaneous presentation of mother and daughter each with uveal melanoma in the right eye with both individuals being seen by their ophthalmologist and by us on the same day.
Uveal melanoma is a rare disease, and instances of both parent and child being affected are even rarer. In one series of 4500 patients 17 kindreds were identified in which a first degree relative was also affected.3 Singh et al reported on a single case of concurrent presentation with father and son presenting within 3 months of each other.4 Our two patients presented within only a few hours of each other. The chance of such simultaneous presentation must be extremely remote, but our report demonstrates that coincidence can occur in any disease.