A 35-year-old female from Brazil presented with a chief complaint of blur at distance OU with her current glasses. Her last eye exam was 7 years ago, she had no relevant health history and was on no medications. The patient also denied any family history of ocular disease.

Pupils, Confrontation visual field and EOM were normal.

Current glasses:

OD -0.50-0.75×113    20/40

OS -0.75-0.50×071    20/50

Today’s refraction:

OD -1.25-1.00×105   20/20

OS -1.75-0.25×060   20/20

Anterior segment was WNL OU

IOP: 15/15

Fundus evaluation: 

Dilated fundus examination was within normal limits OD and revealed a hypopigmented lesion temporal to the macula OS which appeared hypo autofluorescent on FAF with a slight ring of hyper. The patient was unaware of this finding and was also asymptomatic. Amsler grid showed mild distortion nasally OS. OCT and 10-2 VF were performed, see below.

The scan shows attenuation of the outer retina without obvious outer retinal cavitation. There is no appreciable subretinal fluid or choroidal neovascularization.

Interestingly enough, one of the scans did show some level of retinal cavitation. The 3 dimensional representation highlights the overall area of indentation.

 

10-2 Visual field OD was WNL, OS showed a faint defect nasally that matches the area of the lesion.

The patient was diagnosed with Torpedo maculopathy of the left eye.

Discussion:

Torpedo maculopathy is a rare congenital anomaly of the RPE that involves disruption of the outer retina classically located temporal to the macula. It presents as a single hypopigmented area, often with a characteristic torpedo-like shape pointing towards the fovea, hence the name.

Despite its recognition, detailed data on torpedo maculopathy, including its prevalence, demographics, and exact causes are still limited. The underlying mechanism leading to the development of this condition remains unknown.

One of the distinctive features of torpedo maculopathy is its asymptomatic nature. Patients typically do not experience any visual symptoms and the lesion is usually detected during routine eye examinations or incidentally when investigating other eye conditions.

Differential diagnosis may include Congenital hypertrophy of the retinal pigment epithelium (CHRPE), Choroidal nevus, old toxoplasmosis scar and macular dystrophies (However, these typically have a different clinical presentation and characteristic features).

Diagnostic testing:

Fundus Autofluorescence: Will often appear hypo autofluorescent centrally due to the lack of RPE cells, and hyper fluorescent at the edges due to accumulation of lipofuscin produced by dysfunctional RPE under metabolic stress.

OCT: Will show attenuation of outer retinal structures (RPE and photoreceptor loss) with or without retinal cavitation. Although rare, it is important to note the presence or absence of CNVM.

OCTA: A non invasive way to monitor for the development of CNVM.

Management of torpedo maculopathy typically involves regular monitoring of the lesion to assess for any changes over time. Patients should be provided with an at home Amsler grid to self-monitor for change. Since the condition is usually asymptomatic and does not affect vision, treatment is not typically necessary however, a rare yet potential complication does exist and includes the development of choroidal neovascularization. Periodic follow-up visits are essential to monitor for any complications or changes in the lesion.

Overall, while torpedo maculopathy is a rare condition with much still to be understood about its causes and natural history, it generally has a benign course and does not significantly impact vision or overall eye health.