38.1 Features

Cancer-associated retinopathy (CAR) is a photoreceptor degenerative disorder, representing a remote effect of various types of tumors and is associated with presence of various types of antiretinal antibodies in the blood, such as recoverin. This condition typically presents with bilateral, often asymmetric, progressive vision loss over days to years. It typically affects both cones and rods. There may be arteriolar attenuation, arteriolar sheathing, and periphlebitis later in some cases. Melanoma-associated retinopathy (MAR) commonly presents after the melanoma has been diagnosed, often at the stage of metastases. It is typically seen in patients with metastatic cutaneous or uveal melanoma and is more common in men than in women. Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic syndrome resulting in bilateral vision loss. This is generally associated with a systemic cancer, which may not be recognized at the time of the ocular signs and symptoms. Non-paraneoplastic autoimmune retinopathy (npAIR) is the most common form of AIR and can be similar in phenotype and electrophysiological findings to CAR. Patients need to be fully investigated for an occult malignancy before a diagnosis of npAIR can be considered. Onset has been reported at a younger age than CAR, and there is often a strong family or medical history of autoimmune disease.

38.1.1 Common Symptoms

CAR

Photoaversion, prolonged glare after light exposure, reduced visual acuity, decreased color perception, and central scotomas are all indicators of cone dysfunction; nyctalopia, prolonged dark adaptation, midperipheral (ring) scotomas, and more extensive peripheral visual field deficits are indicators of rod dysfunction. The visual symptoms are typically worse than the clinical signs.

MAR

Sudden onset of shimmering, flickering, pulsating photopsias, difficulty seeing in the dark, and progressive visual loss over several months. There is peripheral visual field depression or midperipheral visual field loss.

BDUMP

Bilateral vision loss.

npAIR

Progressive, painless visual deterioration, scotomas, and visual field defects. Very similar symptoms to CAR.

38.1.2 Exam Findings

CAR

Fundus initially appears normal. Optic disc pallor is often not seen in early disease and is much more likely in established disease (▶ Fig. 38.1).

MAR

Fundus appearance ranging from normal to optic nerve pallor, vessel attenuation, retinal pigment epithelium (RPE) changes, and the presence of vitreous cells.

BDUMP

Bilateral, multiple, subtle round, or oval subretinal patches in the RPE; multiple elevated pigmented and nonpigmented uveal melanocytic tumors with diffuse uveal tract thickening; exudative retinal detachments; and rapid cataract development.

npAIR

Clinically, very similar to CAR, but the onset has been reported at a younger age, and there is often a strong family or medical history of autoimmune disease.

38.2 Key Diagnostic Tests and Findings

38.2.1 Optical Coherence Tomography

CAR/npAIR

Spectral domain optical coherence tomography (SD-OCT) has shown loss of outer-retinal structures such as the ellipsoid zone (i.e., EZ, previously referred to as the inner segment/outer segment junction), the external limiting membrane, and the outer nuclear layer (▶ Fig. 38.1). Mild cystic spaces and occasionally mild schisis-like changes may be present. Generalized atrophy may also be present. The mild schisis-like changes in the setting of outer retinal atrophy is highly suspicious for pathologic antiretinal antibodies.

MAR

MAR may be associated with serous or vitelliform detachments of the neurosensory retina and subretinal accumulation of hyperreflective material in the posterior pole.

BDUMP

Choroidal and RPE thickening may be present with variable subretinal fluid and macular edema (▶ Fig. 38.2).

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