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Year : 2005  |  Volume : 53  |  Issue : 4  |  Page : 267-268

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

Department of Ophthalmology Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry - 605 006, India

Correspondence Address:
Vasudev Anand Rao
Department of Ophthalmology Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry - 605 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.18909

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How to cite this article:
Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome. Indian J Ophthalmol 2005;53:267-8

How to cite this URL:
Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome. Indian J Ophthalmol [serial online] 2005 [cited 2022 Dec 5];53:267-8. Available from: https://www.ijo.in/text.asp?2005/53/4/267/18909

In 1952, Goldenhar described a syndrome comprising of epibulbar dermoid, auricular appendages and pretragal fistulae. The cause of the syndrome is obscure. The basic defect lies in the development of the first and second branchial arches. Over the years, Goldenhar's syndrome has been found to be associated with a number of chromosomal anomalies, [1],[2],[3] and yet its occurrence in a Turner's syndrome has not been documented. Juvenile glaucoma though very rare has been reported with Turner's syndrome and not with Goldenhar's sequence.[4]

  Case report Top

A twenty-year-old girl presented to us for the first time with loss of vision in the left eye (OS) of 4 years duration. There was mild pain in OS but no history of use of any medications including topical steroids for the symptoms. On examination, she had a left divergent squint of 150sub with a best-corrected visual acuity of 6/9 in the right eye (OD) and no perception of light in OS. There was a lipodermoid at the outer angle of OS with fine hairs on the surface. The cornea, iris, and lens were normal in both eyes. There was a relative afferent pupillary defect in OS. Fundus examination revealed a cup-disc ratio of 0.5 in OD and glaucomatous optic atrophy in OS. The intraocular pressure (IOP) by applanation tonometry was 30 mm Hg in OD and 50 mm Hg in OS. Indirect gonioscopy with Goldmann mirror revealed Grade IV angle in both eyes (Becker-Schaffer grading) with no other abnormality. The retina and macula were normal. A preauricular appendage was present in front of right ear and a less prominent one over the left ear. There was no facial asymmetry or other anomalies. The presence of preauricular skin tags along with lipodermoid led to a diagnosis of Goldenhar's syndrome [Figure - 1]. Radiological examination of the skull and spine did not reveal any abnormality. A gynaecological examination for primary amenorrhoea disclosed imperforate hymen. An ultrasonography study of the abdomen revealed absence of uterus and the right kidney. Intravenous pyelography confirmed the absence of right kidney [Figure - 1]. The patient was diagnosed to have uterine agenesis and right renal agenesis. Chromosomal analysis was carried by short-term lymphocyte culture using RPMI-1640-GIBCO. Study revealed a mosaic pattern of 46XX and 45XO chromosomal complement (in the ratio of 9:7) [Figure - 2]. No numerical and structural autosomal aberrations were observed.

A full threshold Humphrey field analysis of the right eye was normal. The patient was started on anti-glaucoma therapy. The pressure reduced to 13 mm Hg in OD with topical 0.5% Timolol maleate and 2% Pilocarpine nitrate preparations. Adequate control of IOP was achieved in OS with standard trabeculectomy and Mitomycin C application. The lipodermoid was not cosmetically disfiguring for the patient and hence it was left alone.

  Discussion Top

The syndrome of Goldenhar consists of the complete triad of epibulbar dermoid, accessory auricular appendages and pretragal fistulae, but the diagnosis is further substantiated if there are coincidental vertebral anomalies.[5] The features in our patient suggesting Goldenhar sequence were lipodermoid at the outer canthus and preauricular appendages. The presence of such incomplete forms of the syndrome has been variously described by Sugar.[6]

Although most cases of Oculo-Auriculo-Vertebral spectrum are sporadic, both autosomal dominant and autosomal recessive inheritance have been reported.[2] Furthermore, reports of trisomy 7, 22 and other types of chromosomal anomalies associated with Goldenhar's syndrome have also been described in the literature. [1],[2],[3] Chromosomal studies done by Sugar and others have not revealed any abnormality either structurally or numerically.[6] To our knowledge the occurrence of Goldenhar's syndrome in a case of XO mosaicism (Turner's) has not been documented so far.

The cardinal features of Turner's syndrome are short stature, ovarian dysgenesis with primary amenorrhoea, sexual infantilism and sterility. Webbed neck, cubitus valgus, cardiovascular anomalies, hypertension and urinary anomalies are also seen in a considerable number of patients. Our patient had a Mullerian anomaly in the form of uterine agenesis and solitary kidney as the only manifestations of the syndrome. Many reports on ocular features associated with Turner's syndrome are described including amblyopia, strabismus, blepharoptosis, epicanthus, cataract, hypertelorism and colour blindness.[7] Our patient had none of these findings apart from juvenile glaucoma. To the best of our knowledge there has been only one report of Turner's syndrome associated with juvenile glaucoma.[4] Margolis and associates reported posterior pole findings in Goldenhar's syndrome, which included hypoplasia of the optic nerve and macula occurring with various degrees of microphthalmos.[8] But there has been no report of the association with juvenile glaucoma treatement in the literature. The relationship between 45XO/46XX mosaicism and Goldenhar's sequence is obscure, as does the relationship between juvenile glaucoma and either of the syndromes. To conclude, a thorough search for other ocular and systemic abnormalities and genetic analysis should be carried out in a case of Goldenhar's syndrome with phenotypic variations to disclose possible aetiological factor or coincidental findings.

  References Top

Stanojevic M, Stipoljev F, Koprcina B, Kurjak A. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9 : coincidental findings or etiological factor? J Craniofac Genet Dev Biol 2000;20:150-4.  Back to cited text no. 1
Pridjian G, Gill WL, Shapira E. Goldenhar sequence and mosaic trisomy 22. Am J Med Genet 1995;59:411-3.  Back to cited text no. 2
Wilson GN, Barr M Jr. Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar's syndrome. J Craniofac Genet Dev Biol 1983;3:313-6.  Back to cited text no. 3
Erez R. Juvenile Glaucoma in Turner's syndrome. Ophthalmologica 1970;161:264-8.   Back to cited text no. 4
Krause U. The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol 1970;48:494-9.   Back to cited text no. 5
Sugar HS. The oculoauriculovertebral dysplasia syndrome of Goldenhar. Am J Ophthalmol 1966;62:678-82.   Back to cited text no. 6
Adhikary HP. Ocular manifestations of Turner's syndrome. Trans Ophthalmol Soc UK 1981;101:395-6.   Back to cited text no. 7
Margolis S, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G. Retinal and optic nerve findings in Goldenhar-Gorlin syndrome. Ophthalmology 1984;91:1327-33.  Back to cited text no. 8


  [Figure - 1], [Figure - 2]

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