With fewer than 100 peer-reviewed cases reported in the world to date, the underlying etiology of torpedo maculopathy has remained elusive. In this literature review, we provide new evidence to better support, reject and unify claims regarding cause, diagnosis, and proper clinical management of this disease. We reviewed 44 case reports and case series, which included 77 patients (after exclusions). We additionally introduced 3 new cases from our clinical practice for a total of 80 cases. Ages at presentation ranged from 6 months old to 73 years old (mean: 24.2 years old). The nasal aspects of torpedo maculopathy lesions pointed toward the optic disc and localized to a kite-shaped region of the temporal macula, correlating with the anatomic junction of the superior arcuate, inferior arcuate, and papillomacular bundles of retinal nerve fiber layer distribution. No patterns were observed among the temporal aspects of the lesions. These findings support a congenital etiology of torpedo maculopathy and a possible influence of the retinal nerve fiber layer in the development of mature retinal pigment epithelium.
Diffuse anterior retinoblastoma is a rare variant of diffuse infiltrating retinoblastoma which occurs in up to 1–2% of cases of retinoblastoma. In diffuse anterior retinoblastoma there is a small focus of tumor in the peripheral retina from which free tumor cells enter the aqueous humor and implant on the ciliary body, iris, lens and trabecular meshwork. Patients most commonly present with pseudouveitis, pseudohypopyon and increased intraocular pressure. The differential diagnosis is broad and all of the reported cases relied upon aspirates from the aqueous humor in order to make the diagnosis prior to proceeding with treatment. Treatment involves enucleation and, depending upon the extent of the tumor, may require systemic chemotherapy or external beam radiation. This review summarizes the 7 previously reported cases of diffuse anterior retinoblastoma, discusses pathologic features, and addresses the challenges of early diagnosis and future directions.