Maumenee syndrome


Maumenee syndrome: A rare inherited disorder characterized by deafness at birth and corneal dystrophy which impairs vision.


* Corneal edema at birth * Milky corneal opacities * Corneal thickening * Impaired vision * Progressive sensorineural deafness


* Vestibular –Peripheral (horizontal rotary nystagmus, slow phase toward hypoactive side, latency, fatigability, and accompanied by vertigo, tinnitus, or deafness): Etiologies include labyrinthitis, vestibular neuronitis, Ménie're's disease, migraine, BPV –Central (asymmetric, rotary nystagmus that changes direction in different gazes, no latency, not fatigable): Etiologies include lesions of cerebellum, pons, or cerebellopontine angle –Horizontal * Gaze-evoked –Physiologic: Fixing on objects with eyes when head is turned (e.g., ballerinas) –Pathologic (asymmetric): Etiologies include toxic-metabolic lesions, cerebellar or pontine lesions * Dissociated (different nystagmus between eyes): Etiologies include internuclear ophthalmoplegia of multiple sclerosis or cerebral disease * Periodic alternating nystagmus (cervicomedullary junction) * Downbeat (cervicomedullary junction, characteristic of syringobulbia) * Upbeat (brainstem or cerebellum when present in primary gaze; drug effect if only present in upgaze) * Drug-induced (e.g., anticonvulsants, sedatives, alcohol) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) –Latent nystagmus (occurs only when one eye is viewing, and is always associated with strabismus) –Nystagmus blockage syndrome (convergence, esotropia, and head turn) –Spasmus nutans: Onset 4–14 months, resolves by age 5; head nodding, torticollis, see-saw


Prognosis of Maumenee syndrome: static or slowly progressing vision impairment


* Treat the underlying etiology if possible * Remove offending medications/toxins if possible * Medications to treat the nystagmus (e.g., meclizine for BPV) have varying success * BPV: Otolith repositioning maneuvers (Epley's, Semont's) * Botulinum toxin injection to the appropriate extraocular muscles may be used for severe disabling nystagmus * Congenital nystagmus: Maximize vision by refractive lenses, treat amblyopia (“lazy eye”) if indicated, prism, and/or eye muscle surgery * Vestibular: Vestibular suppressant (meclizine, diazepam), vestibular adaptation exercises * Baclofen may be useful in periodic alternating nystagmus and some congenital nystagmus * Clonazepam for downbeat nystagmus