This is a fairly subjective finding, but EDS patients tend to have thin scleras (the underlying “white part” of the eye). Thus, the darker underlying layer, the choroid, shines through with a blue- grey tinge. Most children normally have bluish scleras, but as we age the sclera thickens. This is easiest to see in a very dim room with a bright light shining on the temporal cornea (while the patient looks nasally).12
This is most commonly seen in Marfan’s syndrome or in EDS patients with marfanoid phenotype (appearance), or those with EDS Type VI. The intraocular lens of the eye is held in place by thin zonules that can break easily in Marfan’s and cause the lens to subluxate. If this happens, the patient may notice double vision out of that eye. The lens is surgically removed with as little trauma to the eye as possible.13
Angioid streaks can be seen during ophthalmoscopy (best seen with the binocular indirect ophthalmoscope), and are seen in some EDS patients and patients with other conditions such as thalassemia, sickle cell anemia, Paget disease of bone, tumoral calcinosis, hyperphosphatemia, lead poisoning and PXE - pseudoxanthoma elasticum).14
Angioid streaks can be easily overlooked if the eye is examined with too much magnification. Angioid streaks appear as mud cracks in the fundus. These are actually breaks in one of the layers of connective tissue in the eye (Bruch’s membrane). If angioid streaks are seen on examination, the search should begin for a systemic cause.15 Generally, the streaks themselves are harmless. They should be monitored on an annual basis to check for abnormal blood vessel formation in the cracks which may need to be treated with a laser. Otherwise, they are mainly an indication of a systemic irregularity such as EDS, causing the condition.16
Epicanthal folds are often recorded in the literature as a frequent sign of EDS, however a study of the literature reveals that “epicanthal folds” are often misdiagnosed, and true epicanthal folds are actually fairly rare in EDS.
An epicanthal fold is a fold of skin that comes down across the inner angle (canthus) of the eye. The epicanthal fold is fairly common in children with Down’s Syndrome, and many healthy babies and toddlers have epicanthal folds that they typically outgrow by the age of 3-5 years. True epicanthal folds sometimes make it appear as if the child has “crossed eyes”. This is easily differentiated from esotropia by gently pinching back the skin near the nose, and verifying that the child’s eyes are tracking properly.
What is common in the eyes and lids of EDS patients, however, is redundant skin on the upper lids, easy eversion of the upper lids and downward slanting eyes (the temporal portion of the eyelids slant down a bit). Again, perfectly harmless, but this appearance can be another piece of the puzzle for the doctor.17
Dry eyes are a common finding in EDS patients (and not uncommon in non-EDS patients). There are numerous effective treatments and medications for this symptom, which can become debilitating in some patients if left untreated.
First, the eye doctor will need to determine why the eyes are dry (and ironically, the patient’s main complaint may be watery eyes – due to reflex tearing from the corneal dryness. Unfortunately, reflex tears do not contain all three layers of tears and thus provide no therapeutic benefit to the patient).
Normal tears that cover the corneal surface are comprised of three basic components:
- The lipid, or oil component, which is the outer layer of the tear film and helps prevent the lacrimal layer beneath it from evaporating or overflowing onto the lower eyelid.
- The lacrimal, or watery component, provides the bulk of the tears and contains salts, proteins, and an enzyme called lysozyme that protects and nourishes the eye.
- The mucoid, or mucus component - the bottom (base) layer of tears. This component tends to cause the tears to adhere to the eye and prevents evaporation.
All three components of the tears in proper balance, are necessary for effective lubrication.
A complete dry-eye work-up is needed to determine the cause of the dryness, and thus the effective treatment. Fluorescein, together with other dyes (lysamine green or rose bengal) will indicate the extent of cell dryness and damage. A Schirmer Test can measure the lacrimal (“watery”) tear production, usually performed with anesthetic over 5 minutes.
Treatment of Dry Eye Syndrome
Treatment of dry eye syndrome primarily consists of one or more of the following; medications, nutritional supplements, artificial tears and punctal occlusion. Dry eye therapy must be tailored to the specific cause of the patients symptoms. Often a stepwise approach for dry eye treatment is beneficial.
The prescription medication Restasis can help eyes increase tear production, and a topical steroid drop can reduce the inflammation that often results from a chronic dry eye (this is usually used initially, then tapered and discontinued as symptoms improve). Equally important is the avoidance of medications that can cause or exacerbate dry eyes – antihistamines and diuretics, for example.
Another treatment option is the use of Lacriserts® - tiny discs made of hydroxypropyl cellulose that are inserted by the patient into the inferior cul-de-sac of the lower lid. These small discs “melt” throughout the day, providing a continuous source of moisture for the patient.
Ointments at night-time can be used (unpreserved ointments are preferred), and are especially helpful if the patient does not sleep with their eyes completely closed (“nocturnal lagophthalmus”, a fairly common condition). It is also recommended that the patient sleep without their ceiling fans.
Essential Omega 3 Fatty Acids
A critical aspect of dry eye treatment involves the use of the essential fatty acids also known as the Omega 3 fatty acids. Eicosapentaenoic acid and docosahexaenoic acid, more commonly known ad EPA and DHA are the essential fatty acids that are known to improve the tear break up time by making the tears oily, thus decreasing their evaporation rate.
Punctal plugs are effective in retaining the patient’s own tears. These silicone plugs are (painlessly) inserted into the lower, and sometimes the upper and lower puncta (the opening of the tear drain, if you will). It is similar to putting a cork in the drain. These plugs are also removable, should they cause the retention of too many tears. It is generally not advisable for EDS patients to have their puncta surgically closed because of the risk of poor healing, and the common reopening of the surgically closed puncta