CASE REPORT
A 4-year-old female child with bilateral compound myopic astigmatism was referred to a retina clinic for the evaluation of a hypopigmented lesion in her right fundus. Under cycloplegia, her best-corrected visual acuity was 6/12 in both eyes (refractive correction right eye – 10.5 DS/−2.50 DC at 180°, left eye – 11 DS/−2.00 DC at 180°).
She had no remarkable medical history of any systemic or ocular disease. Pupils were round, equal, and reactive to light with no afferent pupillary defect.
Biomicroscopy of the anterior segment was unremarkable. Noncontact tonometry measured an intraocular pressure of 14 and 16 mmHg in the right and left eye, respectively.
On fundus examination, a flat, hypopigmented, fusiform chorioretinal lesion with well-defined margins and a tip pointing toward the fovea located at the temporal portion in the right eye was seen. The lesion had a fraying tail toward the temporal aspect.
The peripheral retina was normal and devoid of any chorioretinal lesions bilaterally. The retinal examination of the left eye was unremarkable. Optical coherence tomography (OCT) revealed inner segment-outer segment irregularity with RPE thinning and hyperreflectivity of the underlying choroid in the area of torpedo maculopathy.
Based on the characteristic clinical picture and location of the lesion, a diagnosis of torpedo maculopathy was made.
DISEASE
Torpedo maculopathy (TM), also known as solitary hypopigmented nevus of the retinal pigment epithelium (RPE), paramacular albinotic spot syndrome, congenital hypomelanotic freckle, or atypical macular coloboma was first described as a rare congenital anomaly of the RPE that produces a disruption of outer retinal layers.
So far, short series and scarcely any data about prevalence, demographics, or incidence have been reported. The pathogenesis remains unknown and the typical lesion is a single hypopigmented area in the macula, asymptomatic, temporal to the fovea, and with a characteristic torpedo shape.
The pathognomonic lesion on funduscopic examination is solitary, hypopigmented, oval-shaped with hints of a bullet or a torpedo and a wedge-shaped tail extending peripherally and pointing toward the foveolar region along the horizontal raphe.
MANAGEMENT of Torpedo maculopathy
In general, TM is a congenital condition that remains stable over the years with minimal risk of vision loss. Nevertheless, periodic monitoring of these patients has been recommended due to the rare possibility of CNV or progression.
Patients can self-monitor with an Amsler grid, although in cases of large lesions or the presence of pigment clumping, more frequent observation may be indicated.
Would you have interest in taking retina images by smartphone?
Fundus photography is superior to fundus analysis as it enables intraocular pathologies to be photo-captured and encrypted information to be shared with colleagues and patients.
Recent technologies allow smartphone-based attachments and integrated lens adaptors to transform the smartphone into a portable fundus camera and Retinal imaging by smartphone.
RETINAL IMAGING BY YOUR SMARTPHONE
REFERENCES
- Roseman RL, Gass JD. Solitary hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol. 1992; 110:1762.
- Shirley K, O’Neill M, Gamble R, Ramsey A, McLoone E. Torpedo maculopathy: disease spectrum and associated choroidal neovascularization in a pediatric population. Eye. 2018; 32:1315-20.
- Pian D, Ferrucci S, Anderson SF, Wu C. Paramacular coloboma. Optom Vis Sci. 2003; 80:556-63.
- Teitelbaum BA, Hachey DL, Messner LV. Torpedo maculopathy. J Am Optom Assoc. 1997; 68:373-6.
- Papastefanou VP, Vázquez-Alfageme C, Pearse AK et al. Multimodality imaging of Torpedo maculopathy with swept-source, en face optical coherence tomography and optical coherence tomography angiography. Retin Cases Brief Rep. 2016 Oct 19 ([Epub ahead of print]).
