Let’s talk about the connection between Epidermal Nevus and ocular abnormalities. Right out of the gate I  want to clarify that a diagnosis of Epidermal Nevus in any form without one or more of the potential abnormalities is the disease itself. To be classified as having the syndrome you must have additional abnormalities. Additionally, there are different types of syndromes depending on what form of epidermal nevus one has and what abnormalities are present. This has caused a lot of confusion and controversy in the medical world. I see the term used interchangeably all the time, causing additional anxiety but have clarified with multiple physicians that the absence of any abnormalities does not classify as the syndrome. I for one, am the first person to recognize that the diagnosis itself carries enough anxiety provoking elements and issues without any abnormalities that making sure I understood the difference was vital.

It is also important to remember that the sydromes are rare and chances increase with wide spread lesions.

Ocular abnormalities may include Colobomas of the pupil, iris or eyelid and Cataracts.

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born.

Colobomas are sometimes referred to as keyholes due to their shape. They can effect one or both eyes.

There can also be an association with colobomas of the eyelid. This would be the result of incomplete cell migration and present at birth.

A cataract is a clouding of the lens of the eye that can make it harder for you to see. Cataracts happen when protein builds up in the lens of your eye, making it cloudy. This prevents light from passing clearly through the lens, causing some loss of vision. There are many causes including, age related, from trauma, congenital – meaning born with it, or secondary – which can be due to other medical conditions.

I have searched and searched and cannot seem to find a solid answer to whether or not cataracts would be present at birth only or can develop at a later age but I have an upcoming appointment and will be sure to ask.

Oregon Health and Science University told us that it is recommended to have eyes of nevus owners checked by age one. Where some of the abnormalities would be obvious to the naked eye, others are not.

I downloaded a pediatric neurology book that speaks in more detail about the syndromes and hope to find more valuable information to share soon.

To all our new followers and newly diagnosed nevus owners we hope you find this useful!

Thanks for walking with us today,

Mermaid’s Mommy