[Torpedo macu-lopathy (clinical case)].

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Torpedo maculopathy is a rare, congenital retinal disorder.
• It is hypothesized to arise from developmental anomalies during retinal fissure closure.
• The condition typically presents asymptomatically in children and adolescents during routine eye exams.

Observation:

• Clinical presentation of a case of torpedo maculopathy.
• Detailed ophthalmic examination findings in affected pediatric and adolescent patients.
• Assessment of visual function, which is usually preserved.

Findings:

• Optical coherence tomography (OCT) revealed absence of the retinal pigment epithelium (RPE) at the affected site.
• Evidence of photoreceptor damage and significant thinning of the outer nuclear layer.
• Fundus autofluorescence demonstrated abnormalities consistent with RPE dysfunction.

Implications:

• Understanding the pathogenesis of torpedo maculopathy provides insight into early retinal development.
• Early detection through routine screenings is crucial for identifying this condition.
• Further research into RPE development may elucidate mechanisms underlying congenital retinal anomalies.