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CASE REPORT
Year : 2014  |  Volume : 7  |  Issue : 2  |  Page : 69-71

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature


1 Jasti V Ramanamma Children's Eye Care Center, Hyderabad, India
2 Nimmagadda Prasad Children's Eye Care Center, LV Prasad Eye Institute, Vishakhapatnam, Andhra Pradesh, India

Correspondence Address:
Ramesh Kekunnaya
Department of Paediatric Ophthalmology, Strabismus and Neuro ophthalmology, Jasti V Ramanamma Childrens Eye Care Center, LV Prasad Eye Institute, KAR campus, LV Prasad Marg, Banjara Hills, Hyderabad - 500 034
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-620X.137149

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Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome.


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