Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide ...

A coloboma is an eye abnormality present at birth that results from the absence of some tissues in certain parts of the eye. One or both eyes may be affected. The most obvious presentation of a ...

In eyelid coloboma a piece of either the upper or lower eyelid is absent. Eyelid coloboma may be part of a genetic syndrome, or happen as a result of a disruption of eyelid development in a baby. A ...

A young woman in Poland is getting attention after speaking out on Instagram with claims that she may be Madeline McCann, the British toddler who has been missing since 2007. McCann, in case you’re ...

Goldenhar syndrome: A syndrome with diminution in size of one half of the face, along with dermolipoma and dermoid (tumors on the surface of the eyeball) and ear abnormalities. Treacher-Collins ...

Isolated coloboma can follow all possible patterns of single gene inheritance, namely autosomal dominant, autosomal recessive and X-linked.In one family, however, coloboma will follow only one pattern ...

Ocular coloboma is an abnormality of the eye resulting from its defective development. One or both eyes may be affected by holes or gaps in the cornea, iris, ciliary body, lens, choroidal layer, lens, ...

An iris coloboma can be simple, partial, or complete. In a simple coloboma of the iris, one or more anatomical layers of the iris are absent in the affected area. If the defect includes the pupillary ...

To determine the validity of laser photocoagulation as a prophylactic treatment in the prevention of rhegmatogenous retinal detachment (RRD) in a group of paediatric patients presenting with ...