Megalocornea | |
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Specialty | Ophthalmology |
Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching or exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22). [1] The X-linked form is more common and males generally constitute 90% of cases. [1]
It may be associated with Alport syndrome, craniosynostosis, dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon syndrome, megalocornea mental retardation syndrome, etc. [1] [2]
Eyes are usually highly myopic. [3] There may be 'with the rule' astigmatism. [1] Lens may be luxated due to zonular stretching. [3] In rare cases, it might be associated with intellectual disabilities.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Keratoconus (KC) is a disorder of the eye that results in progressive thinning of the cornea. This may result in blurry vision, double vision, nearsightedness, irregular astigmatism, and light sensitivity leading to poor quality-of-life. Usually both eyes are affected. In more severe cases a scarring or a circle may be seen within the cornea.
Parathyroid glands are small endocrine glands in the neck of humans and other tetrapods. Humans usually have four parathyroid glands, located on the back of the thyroid gland in variable locations. The parathyroid gland produces and secretes parathyroid hormone in response to low blood calcium, which plays a key role in regulating the amount of calcium in the blood and within the bones.
A pterygium of the eye is a pinkish, roughly triangular tissue growth of the conjunctiva onto the cornea of the eye. It typically starts on the cornea near the nose. It may slowly grow but rarely grows so large that it covers the pupil and impairs vision. Often both eyes are involved.
Far-sightedness, also known as long-sightedness, hypermetropia, and hyperopia, is a condition of the eye where distant objects are seen clearly but near objects appear blurred. This blur is due to incoming light being focused behind, instead of on, the retina due to insufficient accommodation by the lens. Minor hypermetropia in young patients is usually corrected by their accommodation, without any defects in vision. But, due to this accommodative effort for distant vision, people may complain of eye strain during prolonged reading. If the hypermetropia is high, there will be defective vision for both distance and near. People may also experience accommodative dysfunction, binocular dysfunction, amblyopia, and strabismus. Newborns are almost invariably hypermetropic, but it gradually decreases as the newborn gets older.
Xerophthalmia is a medical condition in which the eye fails to produce tears. It may be caused by vitamin A deficiency, which is sometimes used to describe that condition, although there may be other causes.
Ocular melanosis (OM) is a blue-gray and/or brown lesion of the conjunctiva that can be separated into benign conjunctival epithelial melanosis (BCEM) and primary acquired melanosis (PAM), of which the latter is considered a risk factor for uveal melanoma. The disease is caused by an increase of melanocytes in the iris, choroid, and surrounding structures. Overproduction of pigment by these cells can block the trabecular meshwork through which fluid drains from the eye. The increased fluid in the eye leads to increased pressure, which can lead to glaucoma. In humans, this is sometimes known as pigment dispersion syndrome.
Scleritis is a serious inflammatory disease that affects the white outer coating of the eye, known as the sclera. The disease is often contracted through association with other diseases of the body, such as granulomatosis with polyangiitis or rheumatoid arthritis. There are three types of scleritis: diffuse scleritis, nodular scleritis, and necrotizing scleritis. Scleritis may be the first symptom of onset of connective tissue disease.
Iridocorneal endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. ICE syndromes are predominantly unilateral and nonhereditary. The condition occurs in predominantly middle-aged women.Iridocorneal Endothelial (ICE) syndrome presents a unique set of challenges for both patients and ophthalmologists, and effective treatment of this group of rare ocular diseases requires a combination of diagnostic and therapeutic complexity. It's important to understand.
Axenfeld–Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Epikeratophakia is a refractive surgical procedure in which a lamella of a donor cornea is transplanted onto the anterior surface of the patient's cornea. A lamellar disc from a donor cornea is placed over the de-epithelialized host cornea and sutured into a prepared groove on the host cornea. Indications include treatment of keratoconus, refractive errors like myopia and high hypermetropia including aphakia, which cannot be corrected with conservative methods.
A pinguecula is a common type of conjunctival stromal degeneration in the eye. It appears as an elevated yellow-white plaque in the bulbar conjunctiva near the limbus. Calcification may also be seen occasionally.
Angioid streaks, also called Knapp streaks or Knapp striae, are small breaks in Bruch's membrane, an elastic tissue containing membrane of the retina that may become calcified and crack. Up to 50% of angioid streak cases are idiopathic. It may occur secondary to blunt trauma, or it may be associated with many systemic diseases. The condition is usually asymptomatic, but decrease in vision may occur due to choroidal neovascularization.
Blurred vision is an ocular symptom where vision becomes less precise and there is added difficulty to resolve fine details.
Primary juvenile glaucoma is a subtype of primary congenital glaucoma that develops due to ocular hypertension and is diagnosed between three years of age and early adulthood. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.
Corneal opacification is a term used when the human cornea loses its transparency. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term corneal blindness is commonly used to describe blindness due to corneal opacity.
Tear break-up time (TBUT) also known as tear film break-up time (TFBUT) is the time taken for the first dry spot to appear on the cornea after a complete blink. TFBUT measurement is an easy and fast method used to assess the stability of tear film. It is a standard diagnostic procedure in the dry eye clinics. The volume of tear in the eye depends on two factors, drainage through the lacrimal passages and evaporation. Factors like decreased tear production, increased evaporation rate, tearfilm instability, tear hyperosmolarity, inflammations, ocular surface damages etc. can cause dryness to the eyes.
Indocyanine green angiography (ICGA) is a diagnostic procedure used to examine choroidal blood flow and associated pathology. Indocyanine green (ICG) is a water soluble cyanine dye which shows fluorescence in near-infrared (790–805 nm) range, with peak spectral absorption of 800-810 nm in blood. The near infrared light used in ICGA penetrates ocular pigments such as melanin and xanthophyll, as well as exudates and thin layers of sub-retinal vessels. Age-related macular degeneration is the third main cause of blindness worldwide, and it is the leading cause of blindness in industrialized countries. Indocyanine green angiography is widely used to study choroidal neovascularization in patients with exudative age-related macular degeneration. In nonexudative AMD, ICGA is used in classification of drusen and associated subretinal deposits.
Exposure keratopathy is medical condition affecting the cornea of eyes. It can lead to corneal ulceration and permanent loss of vision due to corneal opacity.
Mucus fishing syndrome is a rare condition caused by repeated self damage to the conjunctiva.