To describe the clinical features and management of ocular choristomas in mosaic RASopathy patients. We performed a retrospective single-center case review of all mosaic RASopathy patients. We evaluated for the presence of corneal and epibulbar choristomas and conducted a comprehensive analysis of the imaging, including operative microscope images, slitlamp images, and optical coherence tomography images. In doing so, we provide a precise description for these types of choristomas. Nine patients with mosaic RASopathies, 7 men and 2 women (3 with clinical diagnoses of Linear Sebaceous Nevus Syndrome, 5 with Oculoectodermal Syndrome, and 1 with Encephalocraniocutaneous Lipomatosis), were evaluated. Fourteen eyes with ocular choristomas were identified among the 9 patients-bilaterally in 5 and unilaterally in 4. Molecular confirmation was available in 6 cases, and pathogenic variants in the KRAS gene were identified in all 6. None of the choristomas presented as discrete raised lesions at the limbus alone; they were all relatively flat, very vascularized, and in 4 of the 14 eyes, there was involvement of the visual axis, with 6 having extension with vascularization onto the cornea. All of them extended into the conjunctiva and into the sclera posteriorly. Ocular choristomas with conjunctival and scleral extension, often with concomitant corneal vessels, should alert the clinician to the possibility of a mosaic RASopathy. Management can be complicated and includes measures such as optical iridectomy, anti-VEGF injections, and refractive correction with occlusion therapy, and corneal transplantation may also be considered. Hemifacial microsomia, also known as unilateral otomandibular dysostosis or lateral facial dysplasia, is a congenital malformation characterized by asymmetry of the first and second branchial arches. This condition is the 2nd most common craniofacial anomaly after cleft lip and palate. The terms "hemifacial microsomia" and "craniofacial microsomia" are often used interchangeably. However, craniofacial microsomia refers more broadly to any asymmetrical development of the craniofacial skeleton, including ipsilateral skull base hypoplasia. In contrast, hemifacial microsomia most commonly describes maxillary-mandibular hypoplasia involving the pharyngeal arch structures described. For consistency, this activity will use the term hemifacial microsomia (HFM) throughout. Patients typically present with unilateral hypoplasia of the ear, facial skeleton (including the maxilla, mandible, zygoma, and temporal bones), and surrounding soft tissue, although bilateral cases have been reported (see Image. Bilateral Hemifacial Microsomia). HFM and Goldenhar syndrome, also known as Goldenhar-Gorlin syndrome, are considered variants within the same clinical continuum of disorders, termed the oculoauriculovertebral spectrum. Goldenhar syndrome includes HFM phenotypes along with epibulbar dermoid and vertebral anomalies.

Goldenhar syndrome, a variant of hemifacial microsomia, is a rare congenital condition characterized by mandibular hypoplasia, epibulbar dermoids, preauricular tags, and vertebral anomalies. This article discusses the case of a young boy presenting with classical signs of Goldenhar syndrome along with bilateral mandibular second premolar (BMSP) agenesis. While this syndrome can lead to significant physical and functional difficulties, timely recognition and tailored management are pivotal in enhancing the patient's quality of life and long-term health outcomes.

This study characterized the ocular manifestations and associated pathological features in a large cohort of patients diagnosed with Goldenhar syndrome (GS). Patients diagnosed with GS at the Department of Ophthalmology at Shanghai Ninth People's Hospital between 2014 and 2023 were retrospectively identified. Each patient underwent a standardized ophthalmological assessment and relevant tests. Epibulbar choristomas and eyelid colobomas were further categorized into different clinical groups, and their incidence rates and associated pathological features were evaluated. A total of 72 patients diagnosed with GS (98 affected eyes) were included. The most prevalent ocular manifestations were epibulbar choristoma (94.44%) and upper eyelid coloboma (50%). Epibulbar choristomas were classified into four groups, with group II epibulbar choristomas being the most common (29.79%). The pathological features of the epibulbar choristomas varied significantly with location (p < 0.001): the choristomas located at the limbus were all dermoids (100%); lipodermoid was the most prevalent type located at the conjunctiva (40%); and dermoid was the predominant type of choristoma involving both the limbus and conjunctiva (50%), followed by lipodermoid (27.27%) and complex choristoma (22.73%). Upper eyelid colobomas were predominantly unilateral, with mild, moderate, and severe defects in 32.5%, 52.5%, and 15% of the cases, respectively. There was a significant coincidence and severity association between upper eyelid colobomas and epibulbar choristomas (p < 0.05). Our study represents the largest reported case series of GS to date and highlights the prevalence of epibulbar choristomas and upper eyelid colobomas. While the predominant pathological type of epibulbar choristomas overall is dermoid, distinct pathological features have been correlated with their anatomic location or clinical group. Upper eyelid colobomas tended to be located on the inner side, often presenting as mild-to-moderate defects and frequently co-occurring with epibulbar choristomas.

The objective was to evaluate the growth, management, and outcomes of epibulbar dermolipomas over a 5-year follow-up period. This was a retrospective chart review of epibulbar dermolipoma patients with a minimum follow-up of 5 years, which analyzed the changes in size, refractive errors (spherical equivalent), best-corrected visual acuity, histology, and surgical outcomes. A total of 61 eyes of 53 patients (32 females) with an average presenting age of 4.4 years were included. Eight patients had bilateral involvement, and 22 (41.5%) had Goldenhar syndrome. Forty-one eyes had corneal and conjunctival involvement, and 12 had only conjunctival involvement. Forty-five eyes (73.7%) had refractive errors, and 39 (63.9%) were amblyopic. The average lesion size was 8.3 ± 6.1 by 7.4 ±4.9 mm and 7.1 ± 5 by 7.5 ±5.4 mm in operated and unoperated eyes, respectively. Of 61 eyes, 30 underwent simple surgical excision with conjunctival autograft (3), amniotic membrane graft (7), partial thickness corneal transplant (18), and amniotic membrane graft plus limbal epithelial transplant (2). Fifty-five (90%) of operated eyes had better cosmesis and a significant change in refractive error ( p = 0.003). The best-corrected visual acuity improved in operated eyes by 0.4 logMAR units ( p = 0.05). A mean size increase of 0.4 ± 0.8 by 0.4 ± 0.9 mm occurred in 31 eyes managed conservatively, with improved best-corrected visual acuity but no change in refractive errors. Amblyopic eyes showed improvement in best-corrected visual acuity of 0.7 ( p = 0.007) after occlusion therapy in 13 unoperated and 26 operated eyes. Epibulbar dermolipomas often have associated refractive errors and amblyopia. Timely surgical excision improves cosmesis and refractive errors. Occlusion therapy for amblyopic eyes should be offered to help improve vision.

Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed. Here we describe a patient referred for exome sequencing for a complex congenital heart defect and Hirschsprung disease found by exome sequencing to be heterozygous for a loss of function variant, c.945dup (p.Val316SerfsTer5), in SF3B2. This variant was inherited from a parent with an isolated cardiac defect. Interestingly, neither have the defining craniofacial features or other dysmorphisms. This report further illustrates the degree of phenotypic variability seen in SF3B2-related disease and expands the spectrum to include Hirschsprung disease.