|Year : 1980 | Volume
| Issue : 1 | Page : 37-38
TA Joseph, KS Chakravarthy
Department of Ophthalmology Medical College, Calicut, India
T A Joseph
Department of Ophthalmology Medical College, Calicut
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Joseph T A, Chakravarthy K S. Waardenburg's syndrome. Indian J Ophthalmol 1980;28:37-8
The rare disease of Waardenburgs syndrome is genetically determined and transmitted in a dominant autosomal manner with varying degrees of penetrance of the individual abnormalities. From sixteen family pedigrees Waardenburg concluded that the syndrome has an autosomal dominant inheritance with variable penetrance of the individual components Two cases of this syndrome is documented in a family.
| Methods materials and observations|| |
A thirty eight year old muslim male from Palghat brought his two children with the complaints of abnormal ocular findings to the ophthalmic outpatient department of Calcutta Medical College in August 1979.
His wife was 28 years old. Both were healthy, married from different families. They did not remember anybody else among their relatives with similar complaints.
They have five children, 3 females and 2 males. Eldest child (female) aged II years and a male child aged 4 years were affected by Waardenburg's syndrome [Figure - 1]. Other children were healthy.
The affected children had normal vision. No abnormality was detected in the Fundi. They presented with the following signs of Waardenburg's syndrome:
(i) Lateral displacement of medial canthi.
(ii) Lateral displacement of lacrimal puncta.
(iv) broad root of nose.
(v) eye brows extend across the root of nose.
(vi) hypertrichosis of medial portion of eye brow.
(vii) white fore-lock.
(viii) heterochromia irides and
(ix) deaf mutism.
| Discussion|| |
The more generalized anomalies were attributed to developmental fault in the neural crests which could account for the absence of organ of corti, the aplasia of the spinal ganglion aad the pigmentary changes. Waardenburg put forward the possibility that the anomaly of the medial canthi represents an arrest of the development since the configuration corresponds to the embryonic condition at about the beginning of the third month of gestation.
It has been estimated that approximately 2 percent of congenital deafness is due to this disorder. Recognition of this syndrome in affected families should lead to early detection of hearing impairment.
Goldberg observed that the characteristic variation in iris pigmentation in Waardenburg's syndrome are paralleled by the patterns of the pigmentation in the fundus.
Other ocular findings are widened interpupillary distance, aniridia, hypoplasia of caruncle, retina and optic nerve. Less frequently under development of the orbits, thicknening of the tarsus and epicanthus are seen. Convergent squint and strabismic amblyopia are isolated findings.
Since dominant traits characteristically show incomplete penetrance and variable expressivity, the presence of all features of the syndrome in anyone person is not essential to the diagnosis.
| Summary|| |
Two cases suffering from waardenburg's syndrome in a family are presented.
| References|| |
Duke Elder, S., 1967, System of Opthalmology Vol. III Part 2 Congenital deformities p. 1141.
Goldberg, K.G., 1966, Arch. Ophthalmol., 76:797.
Ruben, R.J., 1971, Trans. Pac. Acad. Ophthalmol., Otolaryngol 24:121.
Walter, J., 1979, Ocular syndrome 3:451.
Walter, B., 1979, Clinic.il Neurophthalmology Vol. IP 792 W.B. Saunders.
[Figure - 1]