Ocular and adnexal anomalies in craniofacial microsomia: a systematic review

Abstract

Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in order to estimate the need for ophthalmological screening in CFM patients. Online databases were searched, and data on the number of patients, type and incidence of ocular anomalies, and visual acuity were extracted. Four subgroups of ocular and adnexal anomalies were identified, to provide an overview of the different anomalies. Twenty-five papers analysing 1419 patients in total were included. Ocular anomalies were documented in 6.7-100% of patients. The most reported type I ocular anomalies were eyelid coloboma, lipodermoids, and orbital dystopia. The most reported type II ocular anomalies were epibulbar dermoid, microphthalmia, and anophthalmia. Ptosis and strabismus were the most reported type III anomalies, and irregular astigmatism was the most reported type IV ocular anomaly. Visual impairment in general was reported in 8-71.4% of patients, with severe visual impairment in 11.1-71.4% and amblyopia in 16.3%. This study provides a detailed overview of ocular anomalies in CFM and their prevalence. Furthermore, we propose a new classification to organize ocular anomalies into four clinically relevant subtypes. Finally, the high prevalence of ocular anomalies and visual impairment in this study suggests that CFM patients should undergo ophthalmological screening at least once during the sensitive period.

Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study

“…The results of this study are mostly similar to the results of previous research regarding the prevalence of specific ocular anomalies. 14 However, the overall prevalence of ocular anomalies in this study is greater than the reported 17-24% in other relatively large patient cohorts 13,18,25,26 ; nevertheless, it should be noted that the aim of these previous studies was not always to report the prevalence of ocular anomalies. Furthermore, these studies did not report whether the patients underwent screening for ocular anomalies by an ophthalmologist.…”

“…This study is unique in that it describes ocular anomalies in the largest cohort of patients with CFM to date, thereby offering a detailed overview of the types and prevalence of ocular anomalies. Furthermore, this original study is novel in categorizing ocular anomalies using the classification proposed by our research group, 14 which offers a relatively concise separation of the anomalies and the impact they may have on the patient.…”

“…Incidences of the associated ocular anomalies are highly variable throughout the literature and remain unknown for many ocular and adnexal anomalies in patients with CFM. 14 This is likely due to the relatively small numbers of patients in previous research. Furthermore, the effect of ocular and adnexal anomalies on visual acuity is mostly unknown for CFM patients.…”

“…Ocular and adnexal anomalies were categorized into four different categories based on the classification for ocular anomalies in CFM as proposed previously by our research group 14 . Type I ocular anomalies were defined as anatomical ocular or adnexal anomalies that in general do not tend to impair vision.…”

“…Ocular and adnexal anomalies, both structural and functional, are frequently observed in patients with CFM. 14 Structural ocular anomalies range from lipodermoids to anophthalmia. [15][16][17][18] Functional ocular anomalies range from visual impairment to Duane syndrome.…”