Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome

Rao, Vasudev Anand; Kaliaperumal, Subramanyan; Subramanyan, Thanikachalam; Rao, Kotapalli ramachandra; Bhargavan, Rajesh; Kaliaperumal, Subashini
December 2005
Indian Journal of Ophthalmology;Dec2005, Vol. 53 Issue 4, p267
Academic Journal
journal article
A case of Goldenhar's syndrome in a twenty-year-old female having the features of epibulbar dermoid and preauricular appendages, associated with juvenile glaucoma, uterine and right renal agenesis is described. Genetic study of lymphocyte culture revealed a mosaic pattern of 46XX and 45XO chromosomal complement (in the ratio of 9:7). Although the association of Goldenhar's syndrome with different types of chromosomal anomalies has been described in the past, its occurrence in a Turner's syndrome has not been documented in the literature. The patient had a relative afferent pupillary defect and glaucomatous optic atrophy in left eye. Lowering of the intraocular pressure, which is usually a challenge in the refractory glaucoma seen in these patients, was achieved in the left eye with standard Trabeculectomy with Mitomycin C application. Juvenile glaucoma, a rare association, has been reported with Turner's and not with Goldenhar's sequence.


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