Intermittent and Unilateral Chorioretinal Folds due to Combined Chiari 1 Malformation and Basilar Invagination

Abstract

We report the case of a 35-year-old female with combined Chiari 1 malformation and basilar invagination, who presented with intermittent conjunctival chemosis and unilateral chorioretinal folds that were temporally correlated. She denied any flashes, floaters, eye redness, or pain. She also denied nausea or vomiting. Clinical exam and optical coherence tomography imaging revealed conjunctival chemosis and chorioretinal folds in the left eye. Subsequent magnetic resonance imaging of the brain and the orbits were consistent with combined Chiari 1 malformation and basilar invagination. The unilateral and intermittent chorioretinal folds and conjunctival chemosis presentation of combined Chiari 1 malformation and basilar invagination is unusual. To the best of our knowledge, this is the first case to be reported with this unique clinical presentation. It is most important to be aware that unilateral and intermittent chorioretinal folds associated with conjunctival chemosis may be signs of intracranial disease.

Keywords: Basilar invagination; Chiari 1 malformation; Intermittent chorioretinal folds.

Fig. 1

Color fundus photo (a) and optical coherence tomography foveal B-scan of the right eye (b): blurred optic disc margin, normal macular and foveal contour.

Fig. 2

Color fundus photos (a, c) of the left eye: alternating yellow and dark bands, coarse and radially oriented striations (chorioretinal folds), mostly pronounced on the temporal macula and mid-periphery. Corresponding SD-OCT foveal B-scan image (b) showing broad full-thickness chorioretinal undulations.

Fig. 3

Color fundus photo and optical coherence tomography B-scan of the left eye displaying intermittent fluctuations in CRFs. Chorioretinal undulations on images (a, b, e, f) and normal macula and fovea on images (c, d, g, h). Images a, b were taken at presentation; c, d at 6 weeks; e, f at 13 weeks; and g, h at 15 weeks of follow-up.

Fig. 4

Optic nerve head photo of the right (a) and left eye (c). Corresponding optical coherence tomography B-scan of right (b) and left (d) eyes: pink optic discs, blurred and raised neuroretinal rims (nasal) in both eyes suggestive of Fresnel grade I papilledema. No vascular changes are seen.

Fig. 5

MRI of brain report: Peg-like cerebellar tonsillar herniation 2 cm below the foramen magnum (CM1) as indicated by red arrow, associated with BI of the tip of odontoid process projecting 5 mm (green line) above the Chamberlain's line (yellow line). Otherwise no sign of hydrocephalus or intracranial mass.