Unraveling ptosis: a comprehensive review of clinical manifestations, genetics, and treatment

Hao Deng; Qianling Zhang; Junhui Yi; Lamei Yuan

doi:10.1016/j.preteyeres.2024.101327

Unraveling ptosis: a comprehensive review of clinical manifestations, genetics, and treatment

Prog Retin Eye Res. 2024 Dec 24:101327. doi: 10.1016/j.preteyeres.2024.101327. Online ahead of print.

Authors

Hao Deng¹, Qianling Zhang², Junhui Yi³, Lamei Yuan⁴

Affiliations

¹ Health Management Center, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Disease Genome Research Center, Central South University, Changsha 410013, China; Department of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China. Electronic address: hdeng008@163.com.
² Health Management Center, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Department of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China. Electronic address: zql7217@163.com.
³ Department of Ophthalmology, the Third Xiangya Hospital, Central South University, Changsha 410013, China. Electronic address: 804270235@qq.com.
⁴ Health Management Center, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Disease Genome Research Center, Central South University, Changsha 410013, China. Electronic address: yuanlamei229@163.com.

PMID: 39725023
DOI: 10.1016/j.preteyeres.2024.101327

Abstract

Ptosis is defined as an abnormally low-lying upper eyelid margin on the primary gaze, generally resulting from a congenital or acquired abnormality of the nerves or muscles that control the eyelid. Ptosis can occur alone or concurrently as an ocular or systemic syndrome, and the prevalence of ptosis varies among different countries and populations. Isolated ptosis typically causes aesthetic problems in patients and can lead to functional ophthalmic problems in severe cases. In individuals with syndromic ptosis, ptosis can be a warning of serious medical problems. There are different approaches to classification, depending on the onset time or the etiology of ptosis, and the clinical characteristics of congenital and acquired ptosis also differ. Pedigree and genetic analysis have demonstrated that hereditary ptosis is clinically heterogeneous, with incomplete concordance and variable expressivity. A number of genetic loci and genes responsible for hereditary isolated and syndromic ptosis have been reported. Optimal surgical timing and proper method are truly critical for avoiding the risk of potentially severe outcomes from ptosis and minimizing surgical complications, which are challenging as the pathogenesis is still indistinct and the anatomy is complex. This review provides a comprehensive review of ptosis, by summarizing the clinical manifestations, classification, diagnosis, genetics, treatment, and prognosis, as well as the bound anatomy of upper eyelid.

Keywords: Clinical manifestations; Genetics; Ptosis; Treatment; Variant; ZFHX4.

Publication types

Review