Congenital Anomolies

Eye Disorders

Cryptophthalmos


  - A rare failure of lid differentiation
  - Skin over eye (no lids or palpebral fissure) that sometimes blends in with the cornea which is usually malformed.



Congenital Coloboma


  - Often well tolerated Involves primarily the upper lid
  - no keratopathy

Ankyloblepharon


  - Fusion of part or all lid margin: variant: Ankyloblepharon filiforme adnatum in which the lid margins are connected by fine strands.





Congenital Entropion


  - Usually involves the lower lid
  - Distal part of tarsus rotated inward
  - Lashes abrade the cornea causing keratopathy
  - Permanent corneal damage is uncommon



Epiblepharon


  - A horizontal fold of skin adjacent to either the upper or lower lid Tolerated well by the cornea
  - More commonly the lower lid
  - Often spontaneously resolves in the first years of life
  - Surgery only indicated for severe cases

Congenital Tarsal Kink


  - Child is born with the upper lid bent backwards often with a 180 degree fold in the upper tarsal plate
  - Corneal exposure and rubbing by the bent edge can result in ulceration

Distichiasis


  - An accessory row of lashes growing from the meibomian orifices or posteriorly
  - The lashes are thinner, shorter, less pigmented and frequently well tolerated

Euryblepharon


  - Enlargement of the lateral part of the palpebral aperture with downward displacement of the temporal 1/2 of the lower lid.



Epicanthus


  - Crescentic fold of skin running vertically between the lids and overlying the inner canthus. There are three types:
    - Inversus: If the fold is most prominent in the lower eyelid
    - Tarsalis: (Most people) The fold is most prominent in the upper eyelid
    - Palpebralis: If the fold is equally distributed in the upper and lower eyelids.

Telecanthus


  - Normal interpupillary distance but wide intercanthal distance i.e. Waardenburg's syndrome
  - not: Hypertelorism, which indicates increased distance between the bony orbits.



Blepharophimosis


  - Vertically and horizontally shortened Syndrome palpebral fissures
  - Epicanthus inversus
  - Telecanthus
  - Ptosis: with poor levator function and no lid fold
  - When should the Ptosis be repaired?
    - Frontalis slings are usually done early in life
    - Repairing telecanthus and epicanthus which may improve with age is delayed

Lipodermoid


  - Lipodermoids are epibulbar, developmental growths of normal adipose in an abnormal site, ie. near the lacrimal gland and extending between the superior rectus and lateral rectus muscles posteriorly.
  - Differentiation of benign lipodermoids from non-benign lesions is essential.
  - When other ocular anomalies or systemic conditions are found in conjunction with lipodermoids then Goldenhar-Gorlin syndrome must be considered.



Eyelid Disorders

Congenital Developmental Anomalies Affecting the Eye and Orbit

In the human embryo, the eyes are formed by a delicate and complex process. Problems in this process can lead to congenital (present at birth) eye malformations. These conditions are relatively rare, occurring in approximately five per 10,000 live births. Children with these problems need the kind of specialized experience found among the pediatric ophthalmologists at Children’s National Medical Center. Patients are regularly seen at Children’s National for these conditions.

Children’s has a special Ophthalmic Genetics Clinic, headed by Brian P. Brooks, MD, PhD, one of the few physicians nationwide who is board certified both as a pediatric ophthalmologist and a clinical geneticist. Dr. Brooks conducts an active scientific research program on inherited eye diseases at the National Eye Institute, a division of the National Institutes of Health.



What are congenital/developmental anomalies affecting the eye and orbit?

The human eye forms through a complex program during embryonic development. Problems in this developmental process can lead to congenital eye malformations, such as anophthalmia (no eye), microphthalmia (small eye), coloboma (failure of the optic fissure to close), aniridia (absent or partial iris), and optic nerve hypoplasia (underdeveloped optic nerve).







Congenital Ptosis

Congenital ptosis comprises of a group of cases in which the ptosis is due to a developmental dystrophy of the levator muscle characterized by fibrosis and deficiency and striated muscle fibers.
The ptosis may be mild - in which the lid partially covers the pupil; or severe - in which the lid completely covers the pupil.
The condition may be associated with anisometropia, strabismus and amblyopia higher position of the ptotic eyelid on downgaze.
Children with significant ptosis may need to tilt their head back into a chin-up position, lift their eyelid with a finger, or raise their eyebrows in an effort to see from under their drooping eyelid(s).



Ptosis Jaw-Wink


  - Marcus Gunn Jaw wink ptosis is an example of synkinesis (an abnormal innervation connecting two groups of normally UNRELATED muscles)
  - Marcus Gunn Jaw-wink ptosis does not generally improve with time, but children do tend to learn how to minimize the appearance
  - The phenomena is thought to be due to a congenital misdirection of the fifth cranial nerve fibers into a branch of the third cranial nerve that supplies levator muscle.



Features


  - Marcus Gunn Jaw wink ptosis is an example of synkinesis (an abnormal innervation connecting two groups of normally UNRELATED muscles)poor levator function
  - This causes the eyelid to open (increase in the palbebral fissure) with movements of the mouth
  - Marcus Gunn Jaw-wink ptosis does not generally improve with time, but children do tend to learn how to minimize the appearance



Causes


  - While the cause of Congenital ptosis is often unclear, the most common reason is improper development of the levator muscle. The levator muscle is the major muscle responsible for elevating the upper eyelid.
  - Children with Congenital ptosis may also have amblyopia ("lazy eye"), strabismus (eyes that are not properly aligned or straight), refractive errors, astigmatism, or blurred vision. In addition, drooping of the eyelid may result in an undesired facial appearance.





Evaluation of the Patient


  - complete ophthalmic exam with particular attention to visual acuity.
    - In a series of Congenital ptosis cases incidence of amblyopia was measured to be 20% of which 3% was attributable to droopy eyelid.
    - In the past, the chin elevation posturing was considered a sign of fusion and, thus, indicating a low risk for amblyopia.
    - However, it has recently been shown that the chin elevation does not rule out the presence of significant amblyopia.

  - thorough motility examination is essential
    - in a series of a 113 patients, 31% were found to have strabismus and of these, 3% of the cases were believed to be caused by ptosis that disrupted binocular fusion.
    - because the superior rectus is often involved, full extraocular motion needs to be carefully evaluated.

Concurrent Anatomic Abnormalitites


  - Blepharophimosis may require medial canthal tendon plication5
  - Physiologic defects such as jaw-winking ptosis may require transection of the levator muscle as well as frontalis suspension.
  - Because of the levator aponeurosis resection, children needs to be performed under general anesthesia, a formula is used to determine the amount of levator aponeurosis resection.

Marcus-Gunn Jaw-winking Ptosis


  - In 1883 Marcus Gunn reported an unusual type of congenital ptosis with with a peculiar associated movement of the affected lid." Previous authors have reported Marcus-Gunn phenomena to occur in 2 to 13% of patients with "Congenital ptosis .
  - The phenomena is thought to be due to a Congenital lmisdirection of the fifth cranial nerve fibers into a branch of the third cranial nerve that supplies levator muscle.
  - Patients are classified according to the degree of two parameters:A 3 x 3 matrix is constructed which gives 9 combinations of ptosis (mild, moderate, severe), in jaw-winking (mild, moderate, severe). Different positions of the matrix correspond to one of several operations which are abdicated for the correction of this defect.
    - ptosis     - jaw-winking   - Beard reported 76% of his patients with Marcus-Gunn syndrome had an associated weakness of the superior rectus.
  - Incidence of amblyopia in patients with Marcus-Gunn jaw-winking ptosis is reported to be approximately 35%.
  - In a study in 1984 of 64 patients with jaw- winking ptosis, 60% were found to have amblyopia, 60% were found to have strabismus and 25% were found to have anisometropia. Twenty-five percent were found to have a double elevator palsy.
  - It has been proposed that the Marcus-Gunn phenomena is secondary to supranuclear etiology. The prevalence of double elevator palsy in this study tends to support the theory of a supranuclear lesion. In this study of 1984, of 71 patients followed for approximately 5 years, they were unable to document any objective improvement in any of their patients1 However, they felt that adults were able to control their lid position in excursion of masquerading their jaw-winking phenomena.

Treatments


  - In general, if the visual axes are not obscured by the ptotic lid, it is best to defer treatment until the child is age 3 or 4.
  - The surgical procedure is determined by the amount of levator function present and the severity of ptosis. Function is typically categorized as poor (less than 4 mm), fear (5 to 7 mm) and good (more than 8 mm). In cases of severe ptosis in less than 2 mm of levator function, suspension of the lid to frontalis muscle is the procedure of choice.Congenital Ptosis is treated surgically, with the specific operation based on the severity of the ptosis and the strength of the levator muscle.If the ptosis is not severe, surgery is generally performed when the child is between 3 and 5 years of age (the "pre-school" years).However, when the ptosis interferes with the child's vision, surgery is performed at an earlier age to allow proper visual development.
    - Conjunctival-muellers resection
    - Levator resection
    - Frontalis sling
      - Silicone
      - Fascia (autogenous or donor)
      - Supramid
  - Congenital ptosis is most often treated by ophthalmic plastic and reconstructive surgeons who specialize in disease and conditions affecting the eyelids, lacrimal (tear) system, the orbit (bone cavity around the eye), and adjacent facial structures.






Procedures
Anophthalmos
- Anophthalmia is a medical term used to describe the absence of the globe and ocular tissue from the orbit. - This was first reported more than 400 years ago, yet it is only recently that significant reconstructive options became available. - There are many reasons why one might lose an eye. - Surgeries which result in anophthalmos
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Blepharoplasty
What is Blepharoplasty?
- Your eyes including your eyelids, are perhaps one of the first things people notice in you. This makes your eyes and eyelids one of the most important components for an appealing facial expression and aesthetic appearance. Any visible change in the shape or size of the orbital or periorbital region can spoil the look of your face.
- As you age and grow older, your eyelids may become ‘droopy’ or ‘baggy’ due to the stretching of your eyelid skin and gradually decreasing tone of your eyelid muscles. Your droopy eyelids and brow together cut a sorry figure for your face making you look tired, sleepy and haggard, further leading to eyelid or brow straining or both. In extreme cases, your saggy, baggy eyelids can even obstruct your vision, particularly peripheral vision causing difficulty in reading or driving.
- Blepharoplasty ensures cosmetic or functional corrections to the area around your eyes to enhance your look or to correct any abnormalities in function.
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Blepharospasm
- Blepharospasm is defined as an abnormal, involuntary, sustained and forceful closure or twitching of the eyelids. It is derived from the Greek word ‘blepharon’ which means eyelid, and ‘spasm’ which is an uncontrolled muscle contraction. Blepharospasm is usually associated with headache, eyebrow strain and occasionally loss of vision.
- Isolated blepharospasm is rare and represents a minority of patients presenting with blepharospasm. Blepharospasm is commonly associated with lower facial spasms as part of a syndrome or disease complex. Some examples are:
   - Meige Syndrome: Characterized by spasm of the eyelids and midface.
    - Brueghel’s Syndrome: Presents with blepharospasm and marked spasms in the lower face and neck.
    - Segmental Cranial Dystonia: In addition to the usual spasms of the eyelids and facial muscles it is associated with spasms along distribution of various cranial nerves, most frequently involving the Facial Nerve.
    - Generalized Dystonia: Presents with spasms across various body parts in addition to blepharospasm and facial spasms.
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Brow Lift
A forehead lift, also known as a browlift or browplasty, is a cosmetic surgery procedure used to elevate a drooping eyebrow that may obstruct vision and/or to remove the deep worry lines that run across the forehead and may portray to others anger, sternness, hostility, fatigue or other unintended emotions
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Congenital
Congenital anomolies include :
- Eyelid Disorders
- Orbital Disorders
- Congenital Ptosis
- Congenital Nasolacrimal Duct Obstruction

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Dry Eye
What is Dry Eye?
- Dry eye is a reduction in your eye’s ability to produce sufficient natural tears.
- Insufficient tear production can lead to irritation and pain, and even scarring of the cornea (the transparent part of the eye that covers the pupil and iris).
- Many people will experience dry eye symptoms at some point in their lives.
- Often due to environmental factors such as indoor heating or air conditioning, it can also be caused by occupational factors such as prolonged computer use.
- Dry eye symptoms can affect anyone.
- Some of the symptoms of dry eye include a burning sensation or gritty feeling in the eyes. You may also experience decreased tolerance to contact lens wear or sensitivity to light.
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Eyelid Laxity
- Eyelids protect your eyes from any foreign bodies while keeping them lubricated throughout. Any alteration in the shape, position or function of your eyelids can predispose your eyes to a plethora of ailments or interfere with our vision.
Our eyelid is a complex structure consisting of three theoretical layers:
   - Anterior Layer contains the skin and orbicularis muscle
   - Middle Layer contains the orbital septum and eyelid retractors
   - Posterior Layer contains tarsus and conjunctiva.

- Eyelid malpositions include any unnatural or incorrect positioning and orientation of eyelids due to various factors that influence any of the three layers of the eyelids. They may be caused due to ageing, trauma, scarring, birth defects or medical disease involving any or all of the three layers.
- The most common forms of eyelid malposition are eyelid retraction, ptosis, entropion and ectropion.
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Face
The world of cosmetic surgery has advanced tremendously over the last two decades. New procedures have emerged that can make an individual look and feel younger in a matter of a few minutes. Amongst the vast number of cosmetic procedures currently available, the face lift is a commonly performed one that is sought after by both men and women. Here we shall take a look at this procedure in a little more detail.

- What is a face lift?    - A face lift is called a rhytidectomy in the world of medicine. It involves tightening the muscles of the face and smoothening of the skin so that the face appears younger.    - However, it must be remembered that a face-lift is not an anti ageing solution.
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Lacrimal System
- The lacrimal gland produces tears which enter into the "duct" that drain the tears from the eye into the nose. The most common symptoms are If one has a plugged up "tear duct," not only will tears spill over the eyelids and run down the face, but the stagnant tears within the system can become infected.    (1) excess tearing (tears may run down the face) and    (2) mucous discharge - This may lead to recurrent red eyes and infections. - The excessive tearing can also produce secondary skin changes on the lower eyelids.
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Lagophthalmos
Patients with lagophthalmos have an inability to close eyelids. This may occur, for instance, in patients with Thyroid eye disease.
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Latisse
LATISSE® makes lash growth possible because of its active ingredient: bimatoprost. Although the precise mechanism of action is not known, research suggests that the growth of eyelashes occurs by increasing the percent of hairs in, and the duration of, the anagen (or growth) phase. Lashes can grow longer, thicker and darker because bimatoprost can also prolong this growth phase.
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Orbital Tumors
- Orbital Tumor is any tumor that occurs within the orbit of the eye. The orbit is a bony housing in the skull about 2 inches deep that provides protection to the entire eyeball except the front surface. It is lined by the orbital bones and contains the eyeball, its muscles, blood supply, nerve supply, and fat.
- Tumors may develop in any of the tissues surrounding the eyeball and may also invade the orbit from the sinuses, brain, or nasal cavity, or it may metastasize (spread) from other areas of the body. Orbital tumors can affect adults and children. Fortunately, most are benign.
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Ptosis
- Ptosis is an abnormally low position (drooping) of the upper eyelid
- Ptosis occurs when the muscles that raise the eyelid (levator and Müller's muscles) are not strong enough to do so properly.
- It can affect one eye or both eyes and is more common in the elderly, as muscles in the eyelids may begin to deteriorate.
- Compare with dermatochalsis (extra skin and fat)
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Skin Rejuvination
A radiant, smooth, youthful skin is the essence of beauty and trendy looks. Skin care routine highly contributes in the slowing down of rate of aging of the skin. Choosing the right skin care products for your skin type enhances your beauty keeping the skin cleansed, moisturized and well toned. Use of superficial skin resurfacing treatments to counter fine lines and wrinkles, acne scars and blemishes before they deepen ensures skin rejuvenation.
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Skin Tumors
Cancer of the eyelid, like any other cancer, can be a worrying thing. Treatments are variable and depend on the type of cancer. In this article, we shall take a brief look at the different kinds of eyelid tumors.
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Symblepharon
A symblepharon is a fibrous tract that connects bulbar conjunctiva to conjunctiva on the eyelid.
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Thyroid
Graves' disease is an autoimmune disease.
It most commonly affects the thyroid, causing it to grow to twice its size or more (goiter), be overactive, with related hyperthyroid symptoms such as increased heartbeat, muscle weakness, disturbed sleep, and irritability. It can also affect the eyes, causing bulging eyes (exophthalmos).
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Trauma
Eye injuries are extremely common with over 2 million cases reported every year that require medical treatment. Blindness in one eye is most commonly due to cataract and this is followed closely by eye injuries. In addition, in children, injury to the eye is a recognized as the most common cause of blindness in one eye that is not due to a birth defect.
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