Distribution patterns of torpedo maculopathy: Further evidence of a congenital retinal nerve fiber layer-driven etiology

Abstract

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.

Keywords: BCVA, best corrected visual acuity; CHRPE, congenital hypertrophy of the retinal pigment epithelium; Congenital; Distribution; Embryology; Hypopigmentation; IOP, intraocular pressure; Nerve fiber layer; OCT, optical coherence tomography; RPE, retinal pigment epithelium; Torpedo.

Fig. 1

A. Patient 1 color fundus photo of torpedo maculopathy originating in the superonasal macula of the left eye. B. Patient 1 OCT revealing retinal nerve fiber layer irregularity, mild choroidal excavation, and cavitation resembling subretinal fluid at the level of the RPE and outer retina. C. Patient 2 color fundus photo of choroidal melanoma of the right eye. D. Patient 2 color fundus photo of a small temporal torpedo lesion in the left eye. E. Patient 3 laser scanning pseudo-color image of torpedo maculopathy with a satellite lesion in the right eye. F. Patient 3 autofluorescence image showing hypoautofluorescence corresponding to the torpedo lesion. G. Patient 3 OCT revealing mild disorganization at the level of the ellipsoid zone and RPE.

Fig. 2

A. Right eye distribution map of 38 nasal torpedo maculopathy origins transposed on a normal reference eye. B. Left eye distribution map of 29 nasal torpedo maculopathy origins transposed on a normal reference left eye.

Fig. 3

Schematic of the retinal nerve fiber layer. Reprinted with permission of Robert N. Weinreb, MD.