Title: Blepharophimosis Syndrome with Retinitis Pigmentosa (RP) A Rare Syndrome Complex
Authors: Sumera Zargar, Imran Mir, Renu Agarkherkar
DOI: https://dx.doi.org/10.18535/jmscr/v5i1.59
Abstract
Blepharophimosis is a congenital condition where the patient has severe bilateral, symmetric ptosis, telecanthus (an abnormally wide intracanthal distance with normal interpupillary distance), epicanthus inversus (skin fold arising from the lower eyelid that covers the medial canthus) and blepharophimosis (profound narrowing of the palpebral fissure).
Retinitis pigmentosa (RP) are a group of inherited disorders of the retina that are characterized by progressive dysfunction involving photoreceptors leading to eventual atrophy of several retinal layers .We report a patient with RP associated with blepharophimosis. We could find only one case of such features reported earlier.
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