Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease

Abstract

Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases. We discuss eyelid disorders, such as ptosis, eyelid retraction, abnormal spontaneous and reflexive blinking, blepharospasm, and eyelid apraxia in the context of the neuroanatomic pathways that are affected. We also review the literature regarding the prevalence of eyelid abnormalities in different neurologic diseases as well as treatment strategies (Table 1).

Epalrestat improves motor symptoms by reducing oxidative stress and inflammation in the reserpine induced mouse model of Parkinson’s disease

“…Palpebral ptosis refers to reduced eyelid elevation due to abnormal function of the levator palpebrae superioris, the primary muscle responsible for upper eyelid elevation . In Parkinson's disease, spontaneous eye blink rate was found to be reduced substantially .…”

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

“…Congenital isolated ptosis most often occurs sporadically but can also be familial, and several loci and candidate genes have been suggested, including 1p32‐1p34.1, Xq24‐27.1, and the ZFH4 gene at 8q21.12 . Congenital ptosis can be part of numerous genetic syndromes, some examples are congenital fibrosis of the extraocular muscles ( KIF21A , PHOX2A , TUBB3 ), SIX2 haploinsufficiency, various types of myopathy, neurogenetic diseases, and mitochondrial diseases . The 1p36.13‐1p36.12 microdeletion syndrome presented here is a new syndrome with ptosis as a distinct feature.…”

Molecular Mechanisms and Clinical Manifestations of Catecholamine Dysfunction in the Eye in Parkinson’s Disease As a Basis for Developing Early Diagnosis

“…Кроме того, вследствие гипокинезии при БП снижаются частота моргания, сила сокращения гладких мышц (круговая мышца глаза), окружающих мейбомиевы протоки и способствующих выделению секрета мейбомиевых желез, а также, возможно, изменяется отток слезной жидкости, в результате чего изменяется эвакуация липидного секрета. Поэтому у данных больных могут чаще воспаляться мейбомиевые железы, находящиеся в веках, что может приводить к блефариту и вызывать изменения в роговице [71,72].…”

“…The tear fluid outflow may also change, thus altering the evacuation of lipid secretum. Therefore, in these patients, the meibomian glands located in the eyelids can often become inflamed, which may cause blepharitis and corneal changes [ 71 , 72 ].…”