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N. Pushker, P. Gupta, J. Kaur, M. S. Bajaj, R. Dada, S. Ghose, S. Kashyap, M. Tanwar, M. Chandra, M. Mehta; Clinical and Genetic Analysis of the Congenital Eyelid Anomalies in a Tertiary Care Hospital. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2298.
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To describe the pattern of congenital eyelid anomalies and its ocular and systemic associations at a tertiary care hospital. To do pedigree analysis and karyotyping.
Patients with congenital eyelid anomalies presented during one year period (Dec 2006 - Nov 2007) with complete clinical workup were included. Karyotyping from blood was done in all the patients.
A total of 20 patients were studied. The age ranged from 5 - 21 years. The congenital anomalies studied were blepharophimosis syndrome (9 cases), congenital eyelid coloboma with or without associated syndrome (6 cases), congenital distichiasis (2 cases), congenital eyelid hemangioma (2 cases) and congenital entropion (1 case). Among the patients with eyelid coloboma, 1 had isolated involvement, 2 had median facial cleft syndrome, 2 had Goldenhar syndrome and 1 had hemifacial microsomia. The ocular associations were mainly corneal opacity, lipodermoid, squint and microcornea. None of the blepharophimosis syndrome patient had ocular association. Facial dysmorphism was found in 7 patients and systemic associations in 2 patients, atrial septal defect in 1 blepharophimosis syndrome patient and lymphedema in a case of distichiasis. On pedigree analysis, 1 patient had positive family history. Karyotyping showed abnormality in 3 patients. Two patients of blepharophimosis syndrome had the abnormality i.e 46, XY[80%]/46, XYdel (5q31.3-5q33.2)[20%] chromosomal complement, and 46, XY del(3q28-qter)[60%]/46, XY del(3q26-q28)[40%]. Karyotyping analysis of a case of congenital entropion showed 46, XX[57%]/46, XX del (10q23-qter)[10%]/46, XX inv(9p13-q12)[33%].
We found patients of blepharophimosis syndrome and congenital eyelid coloboma with or without associated syndrome as a common congenital eyelid anomaly in our setup. Eyelid colobomas with associated syndrome were found to have significant ocular associations. In literature, most of the congenital eyelid anomalies show autosomal dominant inheritance, but in our study only one patient had positive family history. Karyotyping analysis showed abnormality in 3 patients.
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