Ocular Aspects of Goldenhar's Syndrome

Major structural abnormalities of the eye in neonates include anophthalmos (no ocular tissues), microphthalmos (small, disorganized eye), nanophthalmos (small but relatively normally structured eye) and buphthalmos (whole eye is enlarged). Major eyelid defects in neonates include complete fusion of the upper and lower eyelids and a “hidden” eye (cryptophthalmos), focal fusion of the upper and lower eyelids (ankyloblepharon), focal defects in either or both eyelids (eyelid coloboma), or abnormal shape of the lower eyelid (euryblepharon). Causes of a narrowed palpebral fissure (space between the eyelids) with or without upper eyelid drooping (ptosis) in neonates include blepharophimosis, congenital ptosis, or congenital Horner syndrome. There are a number of known genetic causes for many of the above disorders, which are discussed throughout the chapter. In some cases these anomalies may occur sporadically and/or in isolation, whereas in other instances they may point to and help guide workup of a number of underlying systemic conditions. Management is challenging and case dependent. Consultation with an ophthalmologist is advisable prenatally if the condition is identified on prenatal imaging or soon after birth. Overarching principles include creating a clear visual axis to optimize visual development and restoring functional eyelids to help cover the eye and avoid corneal scarring and/or exposure.

The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial microsomia (CFM) and to determine their prevalence. In addition, the relationship between the OMENS-Plus and Pruzansky–Kaban classification for each patient and the presence of ocular anomalies was investigated. A total of 881 patients with CFM from four different craniofacial centres were included. Data on ocular anomalies were gathered from the patient charts. Ocular anomalies were present in 33.9% of patients. Four subgroups of ocular and adnexal anomalies were identified. Type I ocular anomalies were present in 22.2%, type II in 19.0%, type III in 18.4%, and type IV in 14.5%. Several potentially preventable and treatable ocular anomalies were identified. Higher OMENS-Plus classification orbit and soft tissue scores and Pruzansky–Kaban classification mandible scores were associated with an increased risk of ocular anomalies. Based on these results and the clinical implications ocular anomalies may have, we underline the importance of targeted ophthalmological screening in CFM. Healthcare professionals should be aware of the possibility of ocular anomalies in these patients, especially during the critical period for visual development.

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.

This paper presents a possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from Haffjarðarey, Western Iceland (1200–1563 CE) and a brief review of associated terminology.

The skeletal remains of a single adult female (HFE-A-34, 18–24 years old), excavated in 1945 by the National Museum of Iceland.

We carried out macroscopic examination of the cranium and mandible in 2017.

Right side unilateral asymmetric craniofacial dysplasia was identified on the cranium and mandible of HFE-A-34.

This individual presents with anomalous craniofacial asymmetry consistent with a clinical diagnosis of FAVs.

This paper offers a visually distinct case of an under-represented and under-documented congenital condition for future identification within paleopathology.

Infra-cranial skeletal manifestations of FAVs would strengthen this possible diagnosis, but at this time it is not possible to definitively link the cranium and mandible of HFE-A-34 to any of the infra-cranial remains excavated from Haffjarðarey.

In addition to further clarifying the variable nature of FAVs in archaeological remains, a detailed discussion of disability and the perception of disabled individuals within the medieval North Atlantic is necessary in order to understand the lived experiences of affected individuals.

A 12-month-old male infant, noted from birth to have a diffuse right temporal epibulbar thickening that encroached on the limbus inferotemporally, was found to manifest stigmata of Goldenhar syndrome, including a limbal dermoid with vellus hairs, esotropia, astigmatism, fullness and ectropion of the lower eyelid, preauricular skin tag, agenesis of the right kidney, and a supernumerary rib. In the excised epibulbar specimen, in addition to a solid dermoid, lobules of lacrimal gland tissue were interpreted as a portion of the palpebral or orbital lobes. This tissue displayed a unique histopathologic finding. Within some of the lobules were cuffs of eosinophilic squamous (epidermoid) cells that surrounded the intralobular ductules and made variable incursions into, with replacement of, the acinar units. Immunohistochemistry disclosed that the normal acinar and lumen-forming ductular cells were intermediate weight cytokeratin7-positive. The acinar cells were additionally gross cystic disease fluid protein-15 positive. The cells of the squamous cuffs were heavy weight cytokeratin 5/6-positive. The outermost basal cells of the cuffs were cytokeratin 14-positive, in common with the myoepithelial cells of the acini. The intraacinar squamous cells were negative for smooth muscle actin and gross cystic disease fluid protein-15. These findings suggest, but do not prove, that the source of the periductular and acinar squamous metaplasia was the germinal transitional cells where the acinar myoepithelium interfaces and imperceptibly converts into ductular basal cells. The foregoing findings are evaluated in the context of the panoply of ocular, facial, and visceral anomalies manifested in Goldenhar spectrum.