RETINAL NEURONAL ECTOPIA: A NEW ENTITY IN THE DIFFERENTIAL DIAGNOSIS OF RETINOBLASTOMA.

BACKGROUND: To present a rare retinal disorder that should be considered in the differential diagnosis of retinoblastoma. METHODS: A 2-year-old boy presented with left ocular discomfort, leukocoria, and a left divergent squint. Examination of the left eye revealed abnormalities in the anterior segment, and fundoscopy showed an irregular white calcified mass with fibrosis and traction toward the lens. As the ocular discomfort worsened, enucleation of the left eye was performed. RESULTS: Histopathological and immunohistochemical assessment of the enucleated eye established the diagnosis of retinal neuronal ectopia. CONCLUSION: We believe that this case is unique in the human retina and highlights the need for specialist differential diagnosis. Although rare, retinal neuronal ectopia should be considered in the differential diagnosis of retinoblastoma.

MESECTODERMAL LEIOMYOMA OF THE CILIARY BODY PRESENTING AS ANTERIOR STAPHYOMA.

PURPOSE: To report two cases of mesectodermal leiomyoma of the ciliary body presenting as anterior staphyloma. METHODS: Two case reports with cytopathologic correlation. RESULTS: First patient (15-year-old boy) presented with a nodular lesion in the sclera. Second patient (31-year-old woman) was found to have a brown ciliary body mass. Growth of the lesion and extrascleral extension was noticed after several years of follow-up. Ultrasonography, light microscopy, and immunohistochemistry of both cases are described confirming mesectodermal leiomyoma of the ciliary body. CONCLUSION: Mesectodermal leiomyoma, despite its rarity, should be considered in the differential diagnosis of uveal tract tumors. Clinically, the diagnosis is difficult and histopathological and immunohistochemical assesment is necessary to avoid inappropriate diagnosis and erroneous treatment.

Visual outcomes following intraophthalmic artery melphalan for patients with refractory retinoblastoma and age appropriate vision.

BACKGROUND/AIMS: To determine the frequency and cause of visual loss following intra-arterial melphalan (IAM) in patients with retinoblastoma with age appropriate vision. METHODS: Assessment of patients with refractory retinoblastoma that had undergone systemic chemotherapy, with or without local treatment, and were subsequently treated with IAM. Eyes of patients with a healthy foveola were assessed. The main outcome measures included visual, macular (including Pattern Visual Evoked Potentials and Fundus Fluorescein Angiography) and retinal functions (Electroretinograms). RESULTS: Five of twelve eyes (42%) demonstrated severe visual loss following IAM at last follow-up (median 21 months). This was due to either retinal detachment (1 eye, 20%) or choroidal ischaemia involving the foveola (4 eyes, 80%). All 3 eyes that had technical difficulties or vasospasm during catheterisation suffered visual loss. 8 out of 10 eyes that had a non-age adjusted dose of melphalan suffered visual loss. Electroretinograms post-IAM deteriorated in 4 of 8 eyes (50%) and Pattern Visual Evoked Potentials deteriorated in 3 (37%), though only one of these 3 showed concomitant visual acuity loss. CONCLUSIONS: Structural and vascular damage to the foveola limited visual acuity. Complications associated with catheterisation and high doses of melphalan may be contributory factors to visual morbidity. Although visual loss is described, no patient developed metastases and most retained good vision.

Prospective study of sentinel lymph node biopsy for conjunctival melanoma.

BACKGROUND: To report our experience with sentinel lymph node biopsy for staging patients with conjunctival melanoma. METHODS: A prospective review of patients with conjunctival melanoma who underwent sentinel lymph node biopsy at St Bartholomew's Hospital from May 2008 to May 2012. The selection criterion for sentinel node biopsy depended on the tumour thickness (≥2 mm) and location of the conjunctival melanoma. The main outcome measures were the incidence of sentinel lymph node positivity and the procedure-related complications. RESULTS: In 4 years, 26 out of 70 patients met the selection criteria for sentinel lymph node biopsy. 4 patients declined and 22 patients consented for the procedure. Technetium-99m failed to identify a sentinel lymph node in four of the 22 patients (18%). Of the remaining 18 patients, two were found to have subclinical micrometastasis in regional lymph nodes. Median follow-up was 20 months (range 6-36 months). No false-negative events were observed. Complications of the procedure included transient blue staining of the epibulbar surface in five patients and transient facial nerve palsy in one patient. CONCLUSIONS: Sentinel lymph node biopsy is a safe procedure with minimal complications. It should be considered for the staging of conjunctival melanomas, especially melanomas in non-limbal location or conjunctival melanomas ≥2 mm thick.