History of present illness
A 13-month-old boy is referred to a pediatric ophthalmologist because his mother noticed that his left eye “turns out” intermittently. The child was born full term weighing 8 pounds, 12 ounces. No other physical abnormalities are present, and the child is developing normally. No family members have any ocular abnormalities or history of strabismus.
Ocular examination findings
Central steady fixation was present in each eye. Motility examination revealed straight eyes and full ocular versions. Cycloplegic refraction was +1.00 sphere bilaterally. Dilated fundus examination showed normal discs, blood vessels, and peripheral retinas. In the left fundus there was a hypopigmented lesion temporal to the fovea ( Fig. 50.1 ).
Imaging
Color fundus photographs were taken of each eye. The right eye was normal. The left eye showed a pointed, elliptically shaped 1.5-disc-diameter lesion on the temporal edge of the fovea ( Fig 50.1 ). The lesion was flat and nonpigmented. The underlying choroidal vessels were visible.
Questions to ask
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Any history of infections during pregnancy? TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes simplex) and Zika viral infections appear as congenital lesions. Some of these harbor more pigmentation and may appear to be more of a scar than simply hypopigmentation.
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No
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Was there any trauma to the infant during delivery? Rarely chorioretinal lesions can result from trauma.
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No
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Has the child had any developmental delay? Infectious causes (TORCH) may be associated with various levels of developmental delay.
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No
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Is there any history of fever or skin lesions?
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No
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Is the lesion calcified? Calcified lesions increase the concern for TORCH lesions and retinoblastoma.
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No
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Assessment
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A healthy 13-month-old child with an elliptically shaped, pointed, flat, nonpigmented lesion in the left eye adjacent to the fovea.
Differential diagnosis
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Congenital toxoplasmosis chorioretinal scar
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Traumatic lesion associated with birth
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Congenital hypertrophy of retinal pigment epithelium (hypopigmented)
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Idiopathic lesion—torpedo maculopathy
Working diagnosis
Torpedo maculopathy
Multimodal testing
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Fundus photographs of torpedo maculopathy usually show a hypopigmented lesion of 1 to 2 disc diameters with a pointed end toward the fovea and a blunt end on the temporal side. Hyperpigmentation of the border and particularly the temporal end may be present.
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Optical coherence tomography (OCT) of the lesion may show (1) attenuation of the outer layers of the retina and pigment epithelium with transmission into the choroid, or (2) neurosensory elevation with attenuation of the ellipsoid zone and interdigitation zone.
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Fluorescein angiography demonstrates a hyperfluorescent window defect of the zone of retinal pigment epithelium (RPE) thinning without late leakage.
Management
Torpedo retinopathy is stable without treatment, but a few reports have shown choroidal neovascularization can occur and threaten central vision.
Gardner syndrome is a subgroup of familial adenomatous polyposis with ocular findings of multiple ellipsoid hypopigmented and hyperpigmented lesions, usually in both eyes. These lesions may resemble a “torpedo” but are usually located outside the macula and may be more pigmented. Any patient with more than one torpedo or lesions outside the temporal macula should be worked up for Gardner syndrome.
Algorithm 50.1 : Algorithm for torpedo maculopathy
