Abstract
BackgroundA partial or complete failure in the involution of the primary optic vesicle resulting in the formation of a cyst is an extremely rare anomaly known as congenital cystic eye. The primary optic vesicle is formed but instead of the anterior part of the vesicle involuting to lie in apposition with the posterior part, a cyst persists at birth and replaces the eye.Case PresentationWe report a case of congenital cystic eye associated with multiple dermal appendages in a 1-day-old female child. This condition presented at birth as a large orbital mass in the left orbit that bulged forwards and stretched the eyelids. No globe or any other ocular structures were identified in the orbit. Multiple dermal appendages were present in the adjacent part of the face below the left orbit and on the upper part of the neck.ConclusionsCongenital cystic eye is an extremely rare condition and with only 28 previous cases reported in the literature. We present the second case of congenital cystic eye with multiple dermal appendages of the face and neck.
Highlights
A partial or complete failure in the involution of the primary optic vesicle resulting in the formation of a cyst is an extremely rare anomaly known as congenital cystic eye
Congenital cystic eye is an extremely rare condition and with only 28 previous cases reported in the literature
We present the second case of congenital cystic eye with multiple dermal appendages of the face and neck
Summary
A partial or complete failure in the involution of the primary optic vesicle resulting in the formation of a cyst is an extremely rare anomaly. The term congenital cystic eye was coined by Mann [1] to describe a case of this rare ocular malformation. We in this study present a 1-day-old infant with congenital cystic eye associated with multiple skin tags. Case Report A 1-day-old female child presented with a large mass in the left orbital region and multiple skin appendages on the face and upper part of neck on the left side. Examination disclosed a large erythematous mass that virtually filled the entire left orbit The appendages measured 5– 10 mm in size, were nontender and were covered by normal skin. Optic nerve, extraocular muscles or any other orbital structure were present No identifiable ocular structures or optic stalk were present. Examination of the facial dermal appendages disclosed normal epidermal and dermal elements. No cartilaginous or bony structures were present in the appendages
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