Abstract

P 306

Prenatal ocular findings in Goldenhar's syndrome

Karin U. Löffler1, Martina C. Herwig1, Frank G. Holz2, Annette M. Müller3
1Ophthalmopathologie, Universitäts-Augenklinik Bonn; 2Universitäts-Augenklinik Bonn; 3Institut für Pathologie, Universitätsklinikum Bonn

Purpose
Hemifacial microsomia in combination with microphthalmia can be diagnosed in a variety of congenital syndromes including the oculo-auriculo-vertebral spectrum (OAVS). Due to varying phenotypes, the diagnosis may be challenging. We report the ocular findings in a 22-week-old fetus (conceived by ICSI) with hemifacial microsomia supporting the diagnosis of Goldenhar’s syndrome.
Methods
Both fetal eyes were examined macroscopically and by serial section light microscopy. The fetus itself was investigated by standard pathology techniques including X-ray.
Results
Ultrasound imaging of the fetus at 22 weeks revealed unilateral microphthalmia and confusing features of the ribs and heart. Amniocentesis indicated a normal karyotype. Post mortem findings after pregnancy termination included left hemifacial microsomia with severe ipsilateral microtia, atresia of the acoustic meatus, microphthalmia and a ventricular septal defect. X-ray evaluation demonstrated hypoplasia of the left maxilla, mandibula and petrous bone, an accessory left lumbar rib and fused cervical ribs. Ophthalmopathologic examination of the affected eye revealed a scleral choristoma (cartilage) near the equator as well as a choroidal/RPE coloboma and staphyloma with displacement of retinal tissue outside the globe. The anterior segment at this stage of development showed no obvious abnormalities.
Conclusions
General pathology findings in conjunction with the ocular changes allowed for the diagnosis of Goldenhar’s syndrome. To our knowledge, a similar choristoma in Goldenhar's syndrome has as yet not been reported in the literature. Probably more ocular findings in Goldenhar’s syndrome can be seen when also prenatal findings in more advanced cases are included. Our case also confirms that occasionally, ophthalmopathologic investigation of fetal eyes can help in establishing the final diagnosis.

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