Cryptophthalmos | |
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Other names | Cryptophthalmia |
Specialty | Medical genetics, ophthalmology |
Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of palpebral fissures and presence of eyelashes. [1] It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with multiple other malformations collectively referred to as Fraser syndrome. [2] Along with microphthalmia (small or underdeveloped globe), it may be associated with a tuft of hair. [1]
Complete cryptophthalmos is the most severe form of Cryptophthalomos. Complete cryptophthalmos is characterized by complete occlusion of the eye sockets and fusion of the skin on the forehead and cheeks. Those with Complete cryptophthalmos have no eyebrows, gland structures, or eyelashes. They also lack a connjunctival sac and the overlying skin fuses with the cornea. Other deformities of the globe are often seen alongside Complete cryptophthalmos. [3]
Those with incomplete cryptophthalmos still have rudimentary eyelids as well as laterally placed small conjunctive sacs. Undeveloped parts of the eyelid still fuse to the malformed globe. The eye globe is typically smaller and covered by skin. In incomplete cryptophthalmos, the palpebral fissure is about a third of the typical length. [3]
Occular cysts can develop in both complete and incomplete forms of cryptophthalmos. [3]
Abortive cryptophthalmos is characterized by the absence of the upper eyelid as well as 75% of the cornea adhered to and covered by the forehead skin. The eye globe size often varies in Abortive cryptophthalmos. [3]
Ultrasound technology is able to detect cryptophthalmos around 18 weeks of gestation. Ultrasound will show a lack of palpebral fissure between the lower and upper eyelids. The skin from the cheek and forehead appears continuous on an ultrasound. [3]
There is not much potential for perfect vision in cryptophthalmos, therefore treatment is mostly focused on the reconstruction of the eye. Surgery can be used to separate fused eyelids and restore some function. When surgery is not possible prosthetic eyelids may be used. [3]
Eye surgery, also known as ophthalmic surgery or ocular surgery, is surgery performed on the eye or its adnexa. Eye surgery is part of ophthalmology and is performed by an ophthalmologist or eye surgeon. The eye is a fragile organ, and requires due care before, during, and after a surgical procedure to minimize or prevent further damage. An eye surgeon is responsible for selecting the appropriate surgical procedure for the patient, and for taking the necessary safety precautions. Mentions of eye surgery can be found in several ancient texts dating back as early as 1800 BC, with cataract treatment starting in the fifth century BC. It continues to be a widely practiced class of surgery, with various techniques having been developed for treating eye problems.
Blepharitis, sometimes known as "granulated eyelids," is one of the most common ocular conditions characterized by inflammation, scaling, reddening, and crusting of the eyelid. This condition may also cause swelling, burning, itching, or a grainy sensation when introducing foreign objects or substances to the eye. Although blepharitis by itself is not sight-threatening, it can lead to permanent alterations of the eyelid margin. The primary cause is bacteria and inflammation from congested meibomian oil glands at the base of each eyelash. Other conditions may give rise to blepharitis, whether they be infectious or noninfectious, including, but not limited to, bacterial infections or allergies.
An eyelid is a thin fold of skin that covers and protects an eye. The levator palpebrae superioris muscle retracts the eyelid, exposing the cornea to the outside, giving vision. This can be either voluntarily or involuntarily. "Palpebral" means relating to the eyelids. Its key function is to regularly spread the tears and other secretions on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. A set of specialized hairs known as lashes grow from the upper and lower eyelid margins to further protect the eye from dust and debris.
The lacrimal glands are paired exocrine glands, one for each eye, found in most terrestrial vertebrates and some marine mammals, that secrete the aqueous layer of the tear film. In humans, they are situated in the upper lateral region of each orbit, in the lacrimal fossa of the orbit formed by the frontal bone. Inflammation of the lacrimal glands is called dacryoadenitis. The lacrimal gland produces tears which are secreted by the lacrimal ducts, and flow over the ocular surface, and then into canals that connect to the lacrimal sac. From that sac, the tears drain through the lacrimal duct into the nose.
Trichiasis is a medical term for abnormally positioned eyelashes that grow back toward the eye, touching the cornea or conjunctiva. This can be caused by infection, inflammation, autoimmune conditions, congenital defects, eyelid agenesis and trauma such as burns or eyelid injury.
Microphthalmia, also referred as microphthalmos, is a developmental disorder of the eye in which one or both eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present.
Entropion is a medical condition in which the eyelid folds inward. It is very uncomfortable, as the eyelashes continuously rub against the cornea causing irritation. Entropion is usually caused by genetic factors. This is different from when an extra fold of skin on the lower eyelid causes lashes to turn in towards the eye (epiblepharon). In epiblepharons, the eyelid margin itself is in the correct position, but the extra fold of skin causes the lashes to be misdirected. Entropion can also create secondary pain of the eye. The upper or lower eyelid can be involved, and one or both eyes may be affected. When entropion occurs in both eyes, this is known as "bilateral entropion". Repeated cases of trachoma infection may cause scarring of the inner eyelid, which may cause entropion. In human cases, this condition is most common to people over 60 years of age.
Blepharoplasty is the plastic surgery operation for correcting defects, deformities, and disfigurations of the eyelids; and for aesthetically modifying the eye region of the face. With the excision and the removal, or the repositioning of excess tissues, such as skin and adipocyte fat, and the reinforcement of the corresponding muscle and tendon tissues, the blepharoplasty procedure resolves functional and cosmetic problems of the periorbita, which is the area from the eyebrow to the upper portion of the cheek. The procedure is more common among women, who accounted for approximately 85% of blepharoplasty procedures in 2014 in the US and 88% of such procedures in the UK.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
The orbicularis oculi is a muscle in the face that closes the eyelids. It arises from the nasal part of the frontal bone, from the frontal process of the maxilla in front of the lacrimal groove, and from the anterior surface and borders of a short fibrous band, the medial palpebral ligament.
The ophthalmic nerve (CN V1) is a sensory nerve of the head. It is one of three divisions of the trigeminal nerve (CN V), a cranial nerve. It has three major branches which provide sensory innervation to the eye, and the skin of the upper face and anterior scalp, as well as other structures of the head.
The lacrimal nerve is the smallest of the three main branches of the ophthalmic nerve (CN V1) (itself a branch of the trigeminal nerve (CN V)).
The infraorbital nerve is a branch of the maxillary nerve. It arises in the pterygopalatine fossa. It passes through the inferior orbital fissure to enter the orbit. It travels through the orbit, then enters and traverses the infraorbital canal, exiting the canal at the infraorbital foramen to reach the face. It provides sensory innervation to the skin and mucous membranes around the middle of the face.
Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.
Oculoplastics, or oculoplastic surgery, includes a wide variety of surgical procedures that deal with the orbit, eyelids, tear ducts, and the face. It also deals with the reconstruction of the eye and associated structures.
Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
Anophthalmia is the medical term for the absence of one or both eyes. Both the globe and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. It can also be associated with other syndromes.
Epiblepharon is a condition characterised by a congenital horizontal fold of skin near the margin of the upper or lower eyelid caused by the abnormal insertion of muscle fibres.This extra fold of skin redirects the lashes into a vertical position, where they may contact the globe of the eye, affecting the cornea or the conjunctivae. This is found most commonly in Asian individuals, especially children. One estimate puts the percentage of affected Asian children aged 7–14 years old at 12.6%.
The accessory visual structures are the protecting and supporting structures (adnexa) of the eye, including the eyebrow, eyelids, and lacrimal apparatus. The eyebrows, eyelids, eyelashes, lacrimal gland and drainage apparatus all play a crucial role with regards to globe protection, lubrication, and minimizing the risk of ocular infection. The adnexal structures also help to keep the cornea moist and clean.
OCT Biomicroscopy is the use of optical coherence tomography (OCT) in place of slit lamp biomicroscopy to examine the transparent axial tissues of the eye. Traditionally, ophthalmic biomicroscopy has been completed with a slit lamp biomicroscope that uses slit beam illumination and an optical microscope to enable stereoscopic, magnified, cross-sectional views of transparent tissues in the eye, with or without the aid of an additional lens. Like slit lamp biomicroscopy, OCT does not penetrate opaque tissues well but enables detailed, cross-sectional views of transparent tissues, often with greater detail than is possible with a slit lamp. Ultrasound biomicroscopy (UBM) is much better at imaging through opaque tissues since it uses high energy sound waves. Because of its limited depth of penetration, UBM's main use within ophthalmology has been to visualize anterior structures such as the angle and ciliary body. Both ultrasound and OCT biomicroscopy produce an objective image of ocular tissues from which measurements can be made. Unlike UBM, OCT biomicroscopy can image tissues with high axial resolution as far posteriorly as the choroid.