Pediatric and Teen CL Care

Making a Difference in the Lives of Patients With Special Needs

By Mary Lou French, OD, MED, FAAO

Neither Treacher-Collins Syndrome nor craniofacial microsomia are syndromes we learned about in optometry school, or if we did, we filed them away in some recess of our brains for board questions. Which of these is hereditary or both or either? What do you do when a patient presents with this syndrome in your office?

Challenges and Opportunities

Because my practice is largely pediatric and because I do work quite a bit with children who have special needs, such rare syndromes actually show up in my office with some regularity. When this occurs, most of the parents are very conversant with the variations of their children's syndromes. My opportunity is to reference what the visual impact is on these patients.

In Gabby's case, the only visual manifestation relative to her specifically was refractive amblyopia of one eye. Normal intelligence, generally healthy, negative pregnancy, and normal labor and delivery are presented in her case history. She has been my patient since age 4.

Over the past five years, Gabby has required more than 13 surgeries to correct the facial abnormalities. Some of the surgeries were for cochlear implants because one of the major deformities in the syndrome involves hearing and the absence of an external ear.

Because of the amblyopia, we have attempted to fit her with glasses since she was 5 years old. Needless to say, it has been a struggle to find the appropriate frames to fit her face, involving the poorly formed external ears, the cochlear implants after the hearing aids, and above all of that the cosmetic issues of the facial deformities.

I have to share that this child is blessed with wonderful parents and family. It so happens that she has this major facial deformity, but you would be hard pressed to notice it once you spend any time at all with her. Bubbly, lovely sense of humor, strong willed, and bright, Gabby just happens to have a condition that may result in some people judging her strictly on how she looks.

Ready for Contact Lens Wear

At her visit this year, age 9, she is tired of the major struggles we have had to fit her with glasses. Her parents understand the importance of the vision correction to correct the amblyopia, which, by the way, with due diligence on the parents' part to get her to wear her glasses no matter how difficult it has been, is maintained at 20/30. This year Gabby wants contact lenses.

Of the many patients I have, Gabby is an excellent candidate for contact lenses. She does well in school, is compliant with all of her other medical treatments and she is really tired of trying to balance glasses and hearing aids.
And yet Gabby does understand the importance of her vision correction. With the introduction of excellent daily wear lenses for astigmatism, I can offer her the best vision correction possible. Her amblyopic eye is hyperopic with astigmatism and her other eye is spherical.

Gabby is now successfully wearing her contact lenses, successfully using her cochlear implants, and she will eventually have a wonderful smile thanks to her excellent surgeons.

Making an Impact

I presented this patient to demonstrate the small part that we can play in patients who present with syndromes that do not have direct visual impairment, but whom we can help in some small way. CLS