Etiology of congenital ptosis - literature review

Abstract

Karolina Ridikaitė1, Dovilė Bučaitė1, Dalia Jarušaitienė1, 2 1Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania 2Lithuanian University of Health Sciences Kauno klinikos, Department of Ophthalmology, Kaunas, Lithuania Abstract Background. Ptosis is abnormal drooping of the upper eyelid (> 2 mm). It is divided into two categories: congenital ptosis, which is present at birth, and acquired ptosis. The pathogenesis of congenital ptosis is thought to be due to a disorder of muscle development and damage to the innervation of the muscles. In contrast, there is currently no precise description of the pathogenesis of congenital eyelid ptosis. Aim. To present the main clinical manifestations of congenital ptosis, based on the available scientific literature. Material and methods. A literature review was conducted in the “PubMed” database using the terms “congenital ptosis” and “myogenic congenital ptosis” and “neurogenic congenital ptosis” from 2010 to 2023. Inclusion criteria was represented by articles relevant to these searches. Results. 1) Myogenic ptosis occurs when the development of the muscle responsible for elevating the upper eyelid is affected and replaced with other tissues. The condition is commonly seen as isolated congenital ptosis or blepharophimosis-ptosis-inverse epicanthal syndrome. 2) Neurogenic ptosis is characterized by an interruption in the nerve signals that control the muscles responsible for elevating the upper eyelid. The condition commonly presents as congenital fibrosis of the extraocular muscles, Marcus Gunn syndrome, Duane syndrome, Moebius syndrome, hereditary congenital facial paresis, Horner’s syndrome and congenital III cranial nerve palsy. Conclusions. Myogenic and neurogenic ptosis are most commonly described in the literature, with a higher prevalence in childhood. In contrast, the underlying mechanism of etiopathogenesis remains unclear. Keywords: congenital ptosis, myogenic congenital ptosis, neurogenic congenital ptosis Full article https://doi.org/10.53453/ms.2023.5.12