Mallipatna, Ashwin MD; Marino, Meghan MS; Singh, Arun D. MD
Abstract: Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the precursor retinal cell are essential, with one mutation that may be germline or somatic and the second one that is always somatic. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of nonocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Genetic testing and genetic counseling are therefore essential components of care for all children diagnosed with retinoblastoma. The American Joint Committee on Cancer has acknowledged the importance of detecting this heritable trait and has introduced the letter “H” to denote a heritable trait of all cancers, starting with retinoblastoma (in publication). In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma.
Catherine S. Choi, MD, Pedram Hamrah, MD, Nora Laver, MD
An 8-year-old Brazilian girl presented with a pigmented conjunctival lesion of her right eye since birth that had been progressively enlarging in size and darkening in pigmentation (Fig 1A). Anterior segment optical coherence tomography (OCT) (Fig 1B) was concerning for possible scleral invasion. The lesion was excised and histopathologic analysis (H&E) demonstrated cystic compound melanocytic nevus with nests of nevus cells in the junctional and subepithelial layers (Fig 1C). There was no evidence of malignancy based on Mart-1, Ki-67, and MITF-1 stains.
E. Bensoussan, S. Baillif, C. Maschi, J.P. Caujolle, J. Thariat
To evaluate proton beam therapy (PBT) as a mean to preserve the eye and spare some vision while not deteriorating survival in patients with large choroidal melanomas.
This is a retrospective, consecutive cohort study of patients with T3-4 choroidal melanomas according to the 7th edition of the American Joint Cancer Classification treated with PBT over a 24-year period.
492 patients were included. Mean tumor thickness and diameter were 8.77 (2–15) mm and 14.91(7–24.1) mm, respectively. Mean macular and optic disc distance were 4.56 (0–19.9) mm and 4.59 (0–22.1) mm, respectively. Mean follow-up was 61.9 months. Rates of neovascular glaucoma (NVG) and enucleation (mainly for local recurrence or NVG) were 27.0 and 19.5%, respectively. Enucleation rates decreased over time. The five-year local control was 94%. Mean baseline visual acuity was 20/63, and visual acuity ≥20/200 was preserved in 20% of patients. At five years, 25% of T3 patients presented with metastasis, overall and specific survival rates were 65 and 75%, respectively.
Local control after PBT remained good with increasingly manageable complications and fewer secondary enucleations over time for these large melanomas. As PBT does not seem to deteriorate survival in these patients having a high risk of metastasis, PBT may be considered as a safe and efficient alternative to enucleation in patients with large choroidal melanoma, and may help to spare some vision.
Adel H Alsuhaibani, Yasser H Al-Faky
Purpose: To report a unique technique to repair lower eyelid retraction using resorbable polydioxanone implants. Patients and Methods: This was a retrospective, consecutive, nonrandomized interventional case series. Patients with lower eyelid retraction after trauma repaired facial fracture, thyroid eye disease, lower eyelid blepharoplasty, and long-standing facial palsy were treated with middle lamellar spacer using absorbable polydioxanone implant. All patients were recruited from the King Abdulaziz University Hospital, Riyadh, Saudi Arabia. Only patients with minimum follow-up of 12 months were included in the study. Results: Eight patients (4 males and 4 females) underwent lower eyelid retraction repair using absorbable polydioxanone implant. The mean age was 43 years (range, 23-63 years). All patients noted improved ocular surface symptoms. The improvement in eyelid retraction ranged from 1.5 to 4 mm with an average of 2.7 mm postoperatively. The implant was well tolerated with no major complications. Conclusions: Several options for spacer materials are available. Absorbable polydioxanone implants seem to be an effective middle lamellar spacer that is a good alternative for repairing middle lamella related lower eyelid retraction and lower eyelid support.
Raffaele Piscopo MD, Mary Romano MD, Alessandra Di Maria MD, Riccardo Vinciguerra MD & Paolo Vinciguerra MD
Introduction: Paraneoplastic clinical signs are characterized by a large and heterogeneous variety of manifestations due to several possible underlying neoplasms. Paraneoplastic pemphigus (PNP) is a particular paraneoplastic variety that usually primarily affects the dermic and/or oral mucosa and is characterized by a high rate of mortality (90%). Therefore, it is important to recognize its possible signs early. This report describes a case of ocular paraneoplastic pemphigus (PNP) presenting with recalcitrant eyelid ulceration and hyperemic conjunctivitis caused by an undiagnosed prostate cancer.
Methods: A 77-year-old man was admitted to our department because of recalcitrant hyperemic conjunctivitis in both eyes, complicated with large ulceration of both upper eyelids in spite of topical therapy. After 3 weeks, oral mucositis and bullous dermatitis on the chest and arms developed.
Results: Complete slit lamp ocular study, conjunctival swabs, routine hematologic tests, serum neoplasm markers, indirect immunofluorescence study, immunoblotting, and oral mucose biopsy with direct immunofluorescence were performed under the hypothesis of a paraneoplastic sign. Total body computed tomography scan and ultrasound-guided needle prostate biopsy completed the diagnostic process and confirmed the diagnosis of prostate PNP. Complete remission of ocular clinical signs was achieved by treatment of the prostate malignancy with systemic immunosuppressive therapy and chemotherapy.