History of present illness
A 17-year-old female patient presents for a retinal examination given skin findings, referred by dermatology. She has no ocular history. There are skin lesions on her face, neck, trunk, and lower extremities.
Questions
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What is her medical history?
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Are there any known hereditary ocular conditions?
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Is there a family history of genetic or inflammatory conditions?
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Are the retinal spots single or multifocal?
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Are the retinal spots unilateral or bilateral?
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In which layer(s) of the retina are the lesions located?
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Is there associated ocular inflammation?
Medical history
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Multiple skin lesions: ash leaf spots on trunk and lower extremities, angiofibromas on face
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Asthma
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No history of seizures
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Normal intelligence
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Medications: none
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Family history: unremarkable
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Examination:
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Visual acuity: right eye (OD), 20/20-; left eye (OS), 20/25 +3
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Pupils: no relative afferent pupillary defect
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Intraocular pressure: OD, 19 mm Hg; OS, 19 mm Hg
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Anterior segment exam (ASE): within normal limits (WNL)
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Posterior segment exam (PSE): (see Figs. 66.1–66.3 )
Fig. 66.1
Multiple retinal astrocytic hamartomas in the right eye, along the inferotemporal arcade and the nasal retina.
Fig. 66.2
Multiple retinal astrocytic hamartomas in the left eye, along the inferotemporal arcade, nasal retina, and midperiphery.
Fig. 66.3
Optical coherence tomography through a retinal astrocytic hamartoma demonstrates glial proliferation in the nerve fiber layer.
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Assessment
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Young female patient with an undiagnosed genetic condition who presents with skin and retinal lesions. The retinal lesions are multifocal, bilateral, and superficial, without calcifications. There is no associated ocular inflammation or retinal vascular abnormalities.
Differential diagnosis
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Myelinated nerve fiber layer
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Cotton wool spot
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Pseudoneoplastic gliosis of the retina
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Presumed solitary circumscribed retinal astrocytic proliferation
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Retinoblastoma
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Astrocytoma
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Astrocytic hamartoma
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Related to tuberous sclerosis complex (TSC) 1–3
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Related to neurofibromatosis (NF)
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Sporadic occurrence
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Workup
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Brain magnetic resonance imaging (MRI): multiple cortical hamartomas with one calcified subependymal nodule
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Retroperitoneal ultrasound: bilateral angiomyolipomas
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Cardiac workup and genetics evaluation were pending
Diagnosis
Astrocytic hamartomas in a patient with TSC
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Glial proliferative in the retinal nerve fiber layer (RNFL)
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Three variants based on fundus appearance:
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Type 1: flat, white and translucent, found above the retinal vessels
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Type 2: raised, yellow, calcified “mulberry” lesions
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Type 3 (mixed lesion): flat, translucent base with elevated, calcified center
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Typically has no associated vascular abnormalities
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Four variants based on optical coherence tomography (OCT) findings:
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Type 1: Flat and confined within the RNFL
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Type 2: Elevated with associated retinal traction
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Type 3: “Moth-eaten” appearance related to calcification
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Type 4: Optically empty cavities within lesions
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Atypical lesions
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They may grow in size.
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They can transform from type 1 to type 2 variant.
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Rarely have been associated with retinal exudation, serous retinal detachment, choroidal neovascularization, vitreous hemorrhage, and even neovascular glaucoma. These lesions may be more properly classified as giant cell astrocytoma, rather than astrocytic hamartoma.
Multimodal imaging
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Fundus autofluorescence: lesions may either exhibit hyper- or hypo-autofluorescence (hyper-AF if calcifications are present).
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Fluorescein angiography: early, hypofluorescence with late mild leakage
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OCT angiography: plexus of capillary vessels within lesions, rarely associated with a feeder vessel
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B scan: medium internal reflectivity tumors, with high internal reflectivity if calcification is present
Management
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Workup and referrals to other medical subspecialties for associated genetic disorder (dermatology, neurology, nephrology, pulmonary, cardiology, and genetic counseling). Obtain appropriate imaging (such as brain MRI, abdominal MRI, electroencephalogram, pulmonary function test, echocardiogram).
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Serial monitoring for retinal lesion growth and transformation.
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Treatment with laser photocoagulation or photodynamic therapy may be necessary for associated retinal exudation and/or cystoid macular edema.
Algorithm 66.1 : Algorithm for retinal white spot
