Visual Function and Ocular Abnormalities in CHARGE Syndrome: A Comparative Study of Ophthalmic Features and Systemic Manifestations

Abstract

Background: CHARGE syndrome is a multifaceted genetic disorder characterized by systemic as well as ocular anomalies, which include craniofacial malformations, coloboma, optic nerve hypoplasia, and congenital heart defects.

Purpose: The aim of the study is to explore the visual function and ocular anomalies with a focus on understanding the correlation between ocular and systemic features.

Methods: A prospective study was conducted in the period from May 2022 to December 2023, which includes 74 subjects who are diagnosed with CHARGE syndrome. Data was collected from specialty clinics and special schools across Gujarat, including detailed ophthalmic evaluation such as visual acuity testing with Log MAR charts. Retinal imaging and fundus examination were performed in all subjects. Systemic anomalies like craniofacial malformations and congenital heart defects were recorded.

Results: Visual acuity score ranged from 0.1 to 1.2 LogMAR with an average score of 0.48., which indicates varied degrees of visual impairment. Ocular anomalies were more predominant with coloboma in 34% of subjects, optic nerve hypoplasia in 23%, and retinal thinning in 29%. Subjects with craniofacial malformations showed significant poor visual acuity, and those with congenital heart defects showed lower visual acuity. A moderate negative correlation was found between visual acuity and retinal thickness.

Conclusions: This study highlights the strong association between systemic manifestations and ocular anomalies in CHARGE syndrome. Craniofacial malformations and congenital heart defects were substantial predictors of visual impairment, emphasizing the need for early and comprehensive monitoring of systemic and ocular features. The findings of this study contribute to better understanding of the genetic and developmental mechanisms underlying this syndrome with implications for diagnostic and therapeutic approaches.

  • Page Number : 54-58

  • Published Date : 2024-04-20

  • Keywords
    CHARGE syndrome, Ocular abnormalities, Visual function, Systemic manifestations, Coloboma, Optic nerve hypoplasia

  • DOI Number
    10.15415/jmrh.2024.102008

  • Authors
    Partha Haradhan Chowdhury and Brinda Shah

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