My eyes are either too dry or too watery or blurry or bloodshot looking and many days than not just flat out painful. I see all kinds of floaters, flashes of lights and things or people that I think are moving in front of me when I am alone.... that could push us into another issue, just kidding, but all of these things going on with my eyes, while normal for most people, are more than likely due to having Ehlers-Danlos Syndrome
This is a very interesting article from Dr. Diana Driscoll a Therapeutic Optometrist, Optometirc Glaucoma Specialist
There is an amazing amount of collagen in
the eye (80% of ocular structures), but relatively, a surprising lack of vision
threatening Ehlers-Danlos Syndrome (EDS) related effects. EDS patients often
manifest numerous ocular symptoms. It is important to understand which
symptoms may be indicative of an urgent condition and which are merely
annoying. Additionally, it can be difficult to know when a symptom is EDS
related, or is an indication of a non-EDS condition.
This summary should help to guide both
patient and doctor with many pieces of the ocular puzzle, guiding both toward
conservative, but not unnecessary treatment and testing.1
An
incredible 27 different genes are responsible for making the collagen in the
structures of the eye.2 The category of EDS that most greatly
affects the eye is the rare Type VI- Kyphoscoliosis Type. In this
type, there is a lack of Lysyl Hydroxylase, making the eye structure weak.3 Thus, the eye can
perforate with very little trauma. Fortunately there are only about 60
reported cases of the Kyphoscoliosis Type VI worldwide.4
The following are common ocular signs, characteristics and symptoms for EDS
patients. Some patients will show many of these signs and symptoms and
some will show few, if any.
Dr.
Diana Driscoll
High
Myopia
Also known as near-sightedness,
myopia causes the patient
to have more difficulty seeing objects at a distance than objects up
close. Myopia is common in EDS and non-EDS patients. Myopia is
typically due to a slightly elongated eye or a very steep cornea, or both.5
In EDS, however, the corneas are often found to be fairly flat, meaning that
the near-sightedness is due primarily to elongation of the eye.6
Retinal
Detachments
EDS patients are prone to myopia and elongated eyes due to the stretching of
the collagenous sclera. The retina (neural tissue) doesn’t stretch with
the sclera but rather gets “pulled along for the ride” and can become thin
resulting in retinal holes, tears, staphylomas, retinal degenerations and
detachments. Dilation of the eyes is recommended annually, or any time the
patient notices a sudden increase in floaters, flashes of light (usually out to
the side of the vision), or immediately if it seems as if a curtain is coming
up over one eye. These can be symptoms of a retinal detachment and may
need to be treated on an urgent basis.7
Keratoconus
In this condition, the cornea (on the front part of the eye) bulges
outward in a cone shape, and gravity pulls the cone downward, blurring the
vision and making it difficult to see well with glasses or soft contact lenses.
Rigid contact lenses are usually tolerable for many years, but about 40% of
keratoconic patients will eventually need a corneal transplant as their rigid
contact lenses become less comfortable with progression of their keratoconus. Some new research (discussed
below) may radically reduce this percentage soon.
Early symptoms of keratoconus include vision that just doesn’t seem as clear to
the patient as it should be – even with use of new glasses or soft contact
lenses. It is usually worse in one eye than the other.
Corneal topography will indicate steepened corneal curvature, especially on the
inferior cornea. If topography indicates keratoconus this is a prime
opportunity to screen the patient for EDS. This screening need not
be extensive, but a quick Beighton scale, understanding that hypermobility is
more common in the metacarpo-phalngeal and wrist joints with keratoconic
patients, is a great place to start.8
In keratoconic patients, one eye is usually able to “cover for the other eye”
for months to years, thus no treatment beyond glasses or contacts may be
necessary during this time. When both eyes are involved to the point that
the patient is unable to see what he/she needs to see, then other options are
explored. This usually begins with gas permeable lenses, which may remain
comfortable for the patient for many years.
Treatment of Keratoconus
If the gas permeable lenses designed for keratoconus are not comfortable for
the patient, one of the new generations of contact lenses with a soft skirt and
a rigid center are becoming increasingly popular as manufacturers are learning
how to avoid the previously common splitting of the contact lens between the
rigid portion and the soft portion. Synergeyes™ lenses are one of the most
popular brands. Scleral lenses (rigid lenses that cover the entire cornea
and overlap onto the sclera) are making an impressive comeback with increased
comfort for the patient, as opposed to the first scleral lenses from decades
ago.
If these lenses are not tolerable, or if their comfort is unacceptable at any
time, other options can be considered, including:
- Intra-corneal
ring segment inserts, such as “Intacs™”. These are small
semi-circles that are inserted into the middle layer of the cornea,
usually on the inferior portion of the cornea and can often return the
patient to acceptable vision with glasses or contact lenses. They
are also removable should the need arise.
- Corneal
transplantation (or grafting): This may involve a penetrating
keratoplasty (a full thickness transplantation or graft) or a lamellar
keratoplasty (a partial thickness transplantation or graft). These
transplants are generally successful (over 90%) primarily because the
cornea does not have a vascular system which would normally transport the
cells to reject a transplant. It is possible to see a graft begin to
develop keratoconus, but this generally doesn’t begin to occur until at
least 18 years after surgery.9
- There is an
exciting new discovery that could change the prognosis and lives of
keratoconic patients everywhere. Researchers have learned that by
rinsing the cornea with riboflavin drops for about 30 minutes, then
shining UV-A rays on the cornea for about 30 minutes (CR3) the collagen
fibrils of the cornea develop stronger cross-links, strengthening the
cornea. This corneal strengthening is resulting in the halt and even
the reversal of keratoconic progression. The implications for the
treatment of Type VI EDS, and the use of riboflavin and UV-A on the skin
is also enticing for most researchers, and we eagerly await testing.10
- Please be aware that
patients with EDS, and especially those with signs of keratoconus, are not
candidates for radial
keratotomy or LASIK refractive correction. Because
of the abnormal structure of the collagen in the cornea, the patients are
more prone to poor healing, corneal ectasias (bulging of the corneas after
surgery), and a disappointing result. Orbscan and pachymetry results
usually indicate areas of corneal thinning (prior to surgery).
Although previous studies have indicated that the population of EDS patients
rarely shows keratoconus, the corollary indicates the opposite – approximately
40% of keratoconus patients have been shown to have EDS.11—
Blue
Sclera
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
Lens
Subluxation
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
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
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
This a picture of me and my Great Great Grandmother. We both have downwards slanting eyes. My Great Great Grandmother had and so do I Ehlers-Danlos Syndrome.
Dry
Eyes
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:
1.
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.
2.
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.
3.
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.
Medications
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
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 Occlusion
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.
Glaucoma
In glaucoma the drainage of aqueous humor (the liquid in the front part of the
eye) is inefficient, or the eye produces fluid too quickly to drain
effectively. This causes pressure on many structures of the eye,
including the optic nerve. The damaged optic nerve can result in
blindness if not treated. The most common type of glaucoma is called “primary
open angle glaucoma” or “POAG”. In cases of POAG, the drainage canal for
ocular fluid appears to be open.
A highly nearsighted individual has a greater risk association with POAG, and
nearsightedness is more common with EDS. The elongated eyeball, characteristic
of nearsightedness, allows a larger optic channel with the optic nerve fiber
becoming more susceptible to pressure and injury.19
Glaucoma can be congenital, for example, when the ducts responsible for fluid
drainage fail to form completely. Some infants are born with defects in the
angle of the eye that slow the normal drainage of aqueous humor, a condition
most often correctable with surgery if discovered early enough. This is
often seen in Type VI EDS, in conjunction with an abnormally small cornea
(“microcornea”) and the thin, blue sclera.
Individuals who have either Ehlers-Danlos syndrome or Marfan's syndrome, a
condition characterized by elongation of the bones, appear to have a higher
association with glaucoma.
Treatment for glaucoma (POAG) begins with eye drops and/or pills to lower the
pressure. If the glaucoma is due to a defect in the drainage canal, argon
laser surgery is usually indicated to open a few areas for the fluid to
drain. As in any surgical treatment for EDS patients, special care is
taken to traumatize the eye as little as possible.20
Symptoms of POAG don’t appear until it may be too late to save the vision in
that eye. Annual eye exams including routine checks of intraocular
pressure (with pachymetry or Orbscan for accuracy of diagnosis) and early
treatment when warranted are the best ways to thwart glaucoma and its damaging
ocular effects.21
Strabismus
Strabismus (crossed eyes or eye drifting outwards, upwards, or downwards) can
also be found in EDS patients and non-EDS patients.
Strabismus occurs when the six extra-ocular muscles that control eye movement
are not in balance. Not dissimilar to the loose joints in the EDS
patient, one or more of the extra-ocular muscles is looser than the others,
resulting in the eye drifting or crossing.
Extra effort may be needed to keep proper alignment of the eyes, causing eye
fatigue. Multifocal lenses (bifocals or trifocals) can help to balance
the muscle activity associated with changing focus from faraway to close up and
back to distance. Prism in prescription glasses can be helpful in
directing light to the correct spot on the retina, so that the eyes do not need
to work so hard to do so. Surgical repair of a strabismus may be
complicated because sutures may be difficult to place in thinned sclera of EDS,
especially in Type VI. As in any muscle or ligament surgery on the EDS
patient, some surgical results may not have lasting effects.22
Macular
Degeneration
The macula is the part of the retina that is used for central vision. In macular
degeneration,
loss of proper functioning of the macula results in blindness of the central
vision (peripheral vision is usually left intact). It is the leading
cause of blindness in those Americans over the age of 55 years, and it affects
over 10 million Americans.
The cause of macular degeneration is not yet fully understood, but it does
appear that EDS patients are more prone to developing this condition.
Macular degeneration can be divided into two types – atrophic (or the “dry”
form) and the more damaging “exudative” (or “wet” form). Because the
macula is physically supported by the collagen of the eye and receives
nutrients through the network of blood vessels in the area, it is easy to
hypothesize how a collagen and/or vessel abnormality could contribute to
macular degeneration. More research will need to be done, however, to
effectively treat or prevent this condition
A major National Eye Institute study, Age Related Eye Disease Study (AREDS),
has produced strong evidence that certain nutrients such as beta carotene
(vitamin A) and vitamins C and E in conjunction with zinc and Omega – 3 fatty
acids may help prevent or slow progression of dry macular degeneration.23
Until recently the only available treatment to seal leaking vessels in the
exudative form of macular degeneration was with laser photocoagulation.24
This was followed by Photodynamic Therapy (PDT) with Visudyne® (a drug injected
intravenously and used to help direct the laser to the affected area) and is
not suitable for all types of lesions.25
Recently, it was discovered that there is a protein in the eye which encourages
the development of blood vessels. Given the name "vascular
endothelial growth factor" (VEGF), researchers have been working to
develop treatments to inhibit VEGF by trapping it or preventing it from binding
with elements which will stimulate growth. Chemically synthesized short strands
of RNA (nucleic acid) called "aptamers" prevent the binding of VEGF
to its receptor. Presently three types of VEGF inhibitors are in use: Lucentis, Macugen and Avastin. All
are given by intraocular injection.26
Posterior
Staphyloma
Because of the inherent weakness of the sclera in EDS, these patients are more
susceptible to developing posterior staphylomas. This is usually seen in
conjunction with high myopia. Binocular indirect ophthalmoscopy or fundus
photography are both good screening tools for staphylomas.27
Carotid-Cavernous
Sinus Fistulas
A carotid-cavernous sinus fistula is the rupture of a blood vessel that
subsequently bleeds into a sinus cavity and/or some part of the eye. The blood
flow can cause serious structural damage to the eye and is considered a true
emergency. Individuals often report hearing their pulse in their temple
and having a frontal headache on one side or the other. Sometimes the eye on that
side is proptotic (it seems to be more prominent than the other eye) and it can
become very red. 28
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