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Vikas Khetan, Kummamuri Sreelakshmi, Ruchika Lakra, Krishnakumar Subramanian, Gopal Lingam; Choroidal melanoma in the young a reason for misdiagnosis a large case series of a rare condition from a rare population. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3641.
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Choroidal melanoma is the most common intraocular tumour in adults and clinical examination can establish diagnosis with accuracy in most cases. It is often misdiagnosed when it presents in the younger population. Choroidal melanoma is relatively less commonly seen in the Indian population, more so in the younger age group. The purpose of this study was to evaluate patients with choroidal melanoma presenting to our center who are 30 years or younger and also to establish the reason for misdiagnosis.
This was a retrospective case series. Case records were reviewed for diagnosis of choroidal melanoma and patients who were younger than 30 years of age at diagnosis were selected for the study. Demographic data and data on clinical features, investigations, treatment and histopathological records were noted. Clinical, ultrasound and MRI features were categorized as typical or atypical. Histopathologically, tumours were classified as epithelioid, mixed or spindle cell types.
There were 25 cases i in the study. The average age was 21.4 ±7.6 years. The referral diagnosis was not consistent with choroidal melanoma in 24/25 cases. Clinical features were typical and enabled clinical diagnosis of tumour in 16 (64%) of 25 eyes. Ultrasound features were typical in 15 (93.8%) of 16 eyes with typical clinical features and in 5 (55.6%) of 9 eyes with atypical clinical features (p=0.022). Ultrasound and MRI features were both atypical in 3 (33.3%) of 9 eyes with atypical clinical features. Fine needle aspiration cytology was performed in 4 (16%) of 25 eyes and was diagnostic in one (25%) eye. Enucleation was performed in 23 (92%) of 25 eyes. On comparing clinical presentation with the histopathological type of tumour, 9 (75%) of 12 tumours with spindle cells, 4 (80%) of 5 tumours with mixed cell type and 2 (33.3%) of 6 tumours with epithelioid cells had typical clinical features on presentation (p=0.159).
Melanomas with typical clinical features are likely to have typical findings on ultrasound and MRI. Tumours with atypical clinical features show atypical ultrasound and MRI features in about 1/3rd of cases. Tumours with epithelioid cells had atypical clinical features in 2/3rd of cases. A high index of suspicion is essential to diagnose atypical cases.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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