Tony Tsai

Masquerade syndromes: malignancies mimicking inflammation in the eye.

The term masquerade syndrome first appeared in the ophthalmic literature in 1967 to describe a conjunctival carcinoma that had presented as chronic conjunctivitis. Since then, the masquerade syndrome label has been applied to a group of disorders that mimic ocular inflammatory disease. Although some benign conditions can be considered masquerade syndromes, most often the term refers to malignant entities. Ocular oncology, the subspecialty that concerns itself with ocular and orbital malignancies, is by nature a field of uncommon disorders. A discussion of the masquerade syndromes, therefore, becomes a study in uncommon presentations of uncommon diseases. Nevertheless, the subject deserves wide attention because, in many cases, the diseases that masquerade are not only vision-threatening but potentially fatal. Significant morbidity and mortality can be averted by early recognition and diagnosis of the masquerade. This end point can be achieved only when an examiner is familiar with these uncommon presentations and maintains an appropriate index of suspicion. This brief review concentrates on six malignant conditions that can masquerade as ocular inflammation: sebaceous gland carcinoma, intraocular lymphoma, periocular lymphoma, retinoblastoma, ocular melanoma, and ocular metastases. The aim is to emphasize epidemiological and clinical features that should raise an examiner’s suspicion for a masquerade syndrome and then to highlight maneuvers that may assist in making the diagnosis. For brevity, discussions regarding therapeutic choices have been avoided. For these six and many of the rarer masquerade syndromes, the best initial step to therapeutic success is early definitive diagnosis.

Extrascleral extension of a choroidal melanoma after argon photocoagulation and transpupillary thermotherapy

The optimal management of small posterior choroidal melanomas remains controversial, especially for tumours located near the optic disc and fovea. Although with increasing rarity, argon laser photocoagulation continues to be used in the primary treatment of small tumours, despite data suggesting that other therapeutic methods may be more successful.1–4 More recently, transpupillary thermotherapy (TTT) has emerged as a therapeutic option for the primary treatment of small choroidal melanomas.5, 6 Initial results are promising, but like any new treatments, more widespread use and longer follow up are needed for a thorough assessment of its efficacy. As a cautionary reminder that additional study is required to define the potential complications of these treatments, we present a case of choroidal melanoma in which treatment with primary argon photocoagulation followed by TTT was associated with extrascleral extension of the tumour. A 38 year old woman presented with decreased visual acuity in her right eye. An ophthalmologist noted a pigmented choroidal lesion with associated subretinal fluid. The lesion was initially treated with argon laser photocoagulation, but within a month the decision was made to re-treat the lesion with TTT. Over the next 7 months, visual acuity deteriorated to 20/200. The lesion exhibited persistent elevation and subretinal fluid. …

Fundus image fusion in EYEPLAN software: an evaluation of a novel technique for ocular melanoma radiation treatment planning.

PURPOSE The purpose of this study is to evaluate a novel approach for treatment planning using digital fundus image fusion in EYEPLAN for proton beam radiation therapy (PBRT) planning for ocular melanoma. The authors used a prototype version of EYEPLAN software, which allows for digital registration of high-resolution fundus photographs. The authors examined the improvement in tumor localization by replanning with the addition of fundus photo superimposition in patients with macular area tumors. METHODS The new version of EYEPLAN (v3.05) software allows for the registration of fundus photographs as a background image. This is then used in conjunction with clinical examination, tantalum marker clips, surgeons mapping, and ultrasound to draw the tumor contour accurately. In order to determine if the fundus image superimposition helps in tumor delineation and treatment planning, the authors identified 79 patients with choroidal melanoma in the macular location that were treated with PBRT. All patients were treated to a dose of 56 GyE in four fractions. The authors reviewed and replanned all 79 macular melanoma cases with superimposition of pretreatment and post-treatment fundus imaging in the new EYEPLAN software. For patients with no local failure, the authors analyzed whether fundus photograph fusion accurately depicted and confirmed tumor volumes as outlined in the original treatment plan. For patients with local failure, the authors determined whether the addition of the fundus photograph might have benefited in terms of more accurate tumor volume delineation. RESULTS The mean follow-up of patients was 33.6 +/- 23 months. Tumor growth was seen in six eyes of the 79 macular lesions. All six patients were marginal failures or tumor miss in the region of dose fall-off, including one patient with both in-field recurrence as well as marginal. Among the six recurrences, three were managed by enucleation and one underwent retreatment with proton therapy. Three patients developed distant metastasis and all three patients have since died. The replanning of six patients with their original fundus photograph superimposed showed that in four cases, the treatment field adequately covered the tumor volume. In the other two patients, the overlaid fundus photographs indicated the area of marginal miss. The replanning with the fundus photograph showed improved tumor coverage in these two macular lesions. For the remaining patients without local failure, replanning with fundus photograph superimposition confirmed the tumor volume as drawn in the original treatment plan. CONCLUSIONS Local control was excellent in patients receiving 56 GyE of PBRT for uveal melanomas in the macular region, which traditionally can be more difficult to control. Posterior lesions are better defined with the additional use of fundus image since they can be difficult to mark surgically. In one-third of treatment failing patients, the superposition of the fundus photograph would have clearly allowed improved localization of tumor. The current practice standard is to use the superimposition of the fundus photograph in addition to the surgeons clinical and clip mapping of the tumor and ultrasound measurement to draw the tumor volume.

Simethicone Retinopathy in an Immature Infant

The authors describe retinal findings in an immature infant consuming simethicone, a common over-the-counter drug used in the treatment of colic. The lesions are most consistent with an embolic phenomenon possibly from systemic absorption of a medication such as simethicone.

Efficacy of low-dose topical mitomycin C treatment for primary acquired melanosis

Primary acquired melanosis (PAM) with atypical cytological features has nearly a 50% chance of progressing to malignant melanoma. Surgical excision with cryotherapy has been the mainstay of treatment, but topical treatment with mitomycin C (MMC) is an increasingly common alternative treatment. Since PAM is relatively rare and MMC is a new treatment option, publications are limited to case reports and a few small series. Optimum doses, duration and timing of treatment cycles have not been established. Two patients were diagnosed with PAM with atypia and were treated with either primary or adjuvant treatment of 0.02% MMC for approximately 10 days for three cycles, which is the lowest dose protocol published to date for the treatment of PAM. Both patients showed stable partial response and only experienced temporary ocular drug toxicity.

Retinoblastoma and Hypochondroplasia: A Case Report of Two Germline Mutations Arising Simultaneously

Purpose: To report a rare case of a patient with two germline mutations arising de novo resulting in bilateral retinoblastoma and hypochondroplasia. Design: A brief review about retinoblastoma and hypochondroplasia; a case report with genetic mutational analysis results. Case report: We report a patient manifesting the clinical features of both bilateral retinoblastoma and hypochondroplasia. Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-703129del) in one allele of the retinoblastoma gene (RB1) and the N540K (C1620C > A) mutation in one allele of the fibroblast growth factor 3 (FGFR3) gene, a frequent mutation in hypochondroplasia. Neither parent has a personal or family history of cancer or ocular tumors. Only the patients mother is short in stature, and her genetic analysis revealed no FGFR3 mutations. Conclusions: Although the probability of both germline mutations occurring in a single individual is exceedingly low, the etiology and mechanism are unknown in this patient. To the best of our knowledge, this is the first report of two clinically distinct heritable germline mutations arising de novo in an individual.