Ophthalmic manifestations of Chiari malformation: a systematic review

Chiari malformation (CM) comprises congenital or acquired hindbrain herniations (>5-mm cerebellar tonsillar descent below the foramen magnum) that disrupt cerebrospinal fluid flow and compress neural structures. While neurological symptoms are well recognized, ophthalmic manifestations, such as papilledema, diplopia, and nystagmus, which are uncommon in the overall CM population but may serve as important diagnostic clues when present, remain undersynthesized. This systematic review summarizes the ophthalmic manifestations of CM to identify symptom patterns, mechanisms, and implications for early diagnosis and interdisciplinary management.

EMBASE and MEDLINE databases were searched in June 2024, following PRISMA guidelines. English-language articles describing ophthalmic findings in patients with CM, presented as case study/series, or literature review were included.

Thirty-two articles met the inclusion criteria, representing 41 individual patient cases. The most common ophthalmic symptoms were diplopia (37%), decreased visual acuity (22%), and visual field loss (28%). Diplopia often resulted from esotropia secondary to 6th nerve palsy, whereas visual acuity and field loss were secondary to papilledema. Among reported cases, the most frequently reported ophthalmic signs were papilledema (44%), nystagmus (32%), and esotropia (29%). In pediatric patients (n = 15), the symptoms of diplopia occurred in 53% of the cases and the sign of esotropia occurred in 53%; usually from the 6th nerve palsy. Papilledema was reported in 27% of the pediatric cases but was the predominating finding among adults (n = 26).

CM demonstrates distinct age-related ophthalmic patterns. In symptomatic patients, targeted neuro-ophthalmic evaluation may aid earlier diagnosis and guide management. Further prospective studies are needed to clarify pathophysiology and optimize interdisciplinary management.