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Subepithelial mucinous corneal dystrophy (SMCD) is a rare form of corneal dystrophy. It was first described in 1993 by Feder et al. Anterior to Bowman layer, deposits of glycosaminoglycan were detected and identified as chondroitin-4-sulfate and dermatan sulfate.
Dermatochalasis is sometimes confused with blepharochalasis, but these are two different conditions.
Blepharochalasis results from recurrent bouts of painless eyelid swelling, each lasting for several days. This is thought to be a form of localized angioedema, or rapid accumulation of fluid in the tissues. Recurrent episodes lead to thin and atrophic skin. Damage to the levator palpebrae superioris muscle causes ptosis, or drooping of the eyelid, when the muscle can no longer hold the eyelid up.
Brown atrophy of the heart is atrophy of the heart muscle (or myocardium) commonly found in the elderly. It is described as brown because fibers become pigmented by intracellular lipofuscin deposits (mostly around the cell nucleus) a type of lipochrome granule.
It has no known effect on function, and is described as being expected or normal in aging.
Other types of brown atrophy include brown atrophy of neuronia and brown atrophy of the liver.
Cornea verticillata, also called Fleischer vortex, vortex keratopathy or whorl keratopathy, is a condition characterised by corneal deposits at the level of the basal epithelium forming a faint golden-brown whorl pattern. It is seen in Fabry disease or in case of prolonged amiodarone intake.
Neurocutaneous melanosis is associated with the presence of either giant congenital melanocytic nevi or non-giant nevi of the skin. It is estimated that neurocutaneous melanosis is present in 2% to 45% of patients with giant congenital melanocytic nevi. Patients with non-giant congenital melanocytic nevi seem to have a much lower, but undefined risk. Of these patients, only a small number are symptomatic, usually displaying symptoms before the age of 2.
These symptoms are the result of melanocytic lesions being present in the leptomeninges of the central nervous system.
Symptoms can include:
- Papilledema
- Cranial palsies
- Headache
- Vomiting
- Seizures
Others symptoms may also exist that are related to an increase in intracranial pressure. These symptoms seem to be present regardless of the malignancy of the melanin deposits within the central nervous system.
Approximately 10% of patient with neurocutaneous melanosis also present the Dandy–Walker syndrome and associated Dandy-Walker malformation. This malformation involves an enlargement of the posterior fossae and fourth ventricle along with agenesis of the cerebellar vermis. The abnormalities of the leptomeninges during fetal development due to neurocutaneous melanosis may be the cause of this increased incidence of the Dandy-Walker malformation. The development of hydrocephalus is the most common symptom associated with a combination of neurocutaneous melanosis and a Dandy-Walker malformation, occurring in about two out of three patients.
Fleischer rings are pigmented rings in the peripheral cornea, resulting from iron deposition in basal epithelial cells, in the form of hemosiderin. They are usually yellowish to dark-brown, and may be complete or broken.
They are named for Bruno Fleischer.
Fleischer rings are indicative of keratoconus, a degenerative corneal condition that causes the cornea to thin and change to a conic shape.
The cause of the rare condition of tumoral calcinosis is not entirely understood. It is generally characterized by large, globular calcifications near joints.
Focal proliferative nephritis is a type of glomerulonephritis seen in 20% to 35% of cases of lupus nephritis, classified as type III. As the name suggests, lesions are seen in less than half of the glomeruli. Typically, one or two foci within an otherwise normal glomerulus show swelling and proliferation of endothelial and mesangial cells, infiltration by neutrophils, and/or fibrinoid deposits with capillary thrombi. Focal glomerulonephritis is usually associated with only mild microscopic hematuria and proteinuria; a transition to a more diffuse form of renal involvement is associated with more severe disease.
Metastatic calcification involves a systemic calcium excess imbalance, which can be caused by hypercalcemia, kidney failure, milk-alkali syndrome, lack or excess of other minerals, or other causes.
Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity, in severe cases requiring corneal transplants. Abnormal cholesterol metabolism has been noted in other cell types of affected patients (skin fibroblasts) suggesting that this may be a systemic disorder with clinical manifestations limited to the cornea.
In Ollier disease isolated enchondromas are present without the presence of hemangiomas.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly afflicted.
Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%).
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.
Symptoms of pterygium include persistent redness, inflammation, foreign body sensation, tearing, dry and itchy eyes. In advanced cases the pterygium can affect vision as it invades the cornea with the potential of obscuring the optical center of the cornea and inducing astigmatism and corneal scarring. Many patients do complain of the cosmetic appearance of the eye either with some of the symptoms above or as their major complaint.
Filamentous opacities appear in the cornea with intertwining delicate branching processes. During an eye examination, the doctor sees these deposits in the stroma as clear, comma-shaped overlapping dots and branching filaments, creating a lattice effect. Over time, the lattice lines will grow opaque and involve more of the stroma. They will also gradually converge, giving the cornea a cloudiness that may also reduce vision. The disease is bilateral, usually noted before the end of the first decade of life. Although lattice dystrophy can occur at any time in life, the condition usually arises in children between the ages of two and seven.
In some people, these abnormal protein fibers can accumulate under the cornea's outer layer—the epithelium. This can cause erosion of the epithelium. This condition is known as recurrent epithelial erosion. These erosions alter the cornea's normal curvature, resulting in temporary vision problems, and expose the nerves that line the cornea, causing severe pain. Even the involuntary act of blinking can be painful.
In systemic cases, kidney failure, heart failure and neuropathy such as facial nerve palsy, laxity of the skin may be noted.
Conjunctival suffusion is an eye finding occurring early in Weil’s disease, which is caused by "Leptospira interrogans". Conjunctival suffusion is characterized by redness of the conjunctiva that resembles conjunctivitis, but it does not involve inflammatory exudates. Swelling of the conjunctiva (chemosis) is seen along the corners of the eye (palpebral fissures).
About 30 percent of patients with Weil's disease develop conjunctival suffusion. When it does occur, it develops towards the end of the early phase of the illness. Even in severe cases, the suffusion occurs in the first phase of the illness.
Conjunctival suffusion may also occur in patients with a Hantavirus infection. In a 1994 study of 17 patients with Hantavirus infections, 3 had conjunctival suffusion.
Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.
Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and anterior stroma.
A pinguecula is a common type of conjunctival degeneration in the eye.
Membranoproliferative glomerulonephritis ("MPGN"), also known as mesangiocapillary glomerulonephritis, is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane (GBM) thickening, activating complement and damaging the glomeruli.
MPGN accounts for approximately 4% of primary renal causes of nephrotic syndrome in children and 7% in adults.
It should not be confused with membranous glomerulonephritis, a condition in which the basement membrane is thickened, but the mesangium is not.
Bitot's spots are the buildup of keratin located superficially in the conjunctiva, which are oval, triangular or irregular in shape. These spots are a sign of vitamin A deficiency and are associated with conjunctival xerosis. In 1863, Pierre Bitot (1822-1888), a French physician, first described these spots.
In ancient Egypt, this was treated with animal liver, which is where vitamin A is stored.
Neurotrophic keratitis (NK) is a degenerative disease of the cornea caused by damage of the trigeminal nerve, which results in impairment of corneal sensitivity, spontaneous corneal epithelium breakdown, poor corneal healing and development of corneal ulceration, melting and perforation.
Neurotrophic keratitis is classified as a rare disease, with an estimated prevalence of less than 5 in 10,000 people in Europe. It has been recorded that on average, 6% of herpetic keratitis cases may evolve to this disease, with a peak of 12.8% of cases of keratitis due to herpes zoster virus.
The diagnosis, and particularly the treatment of neurotrophic keratitis are the most complex and challenging aspects of this disease, as a satisfactory therapeutic approach is not yet available.
Some confusion exists between Fleischer rings and Kayser-Fleischer rings. Kayser-Fleischer rings are caused by copper deposits, and are indicative of Wilson's disease, whereas Fleischer rings are caused by iron deposits. One example of a medical condition that can present with Fleischer rings is Keratoconus.
Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. These lesions may occur in the amygdala, cerebellum, cerebrum, pons, and spinal cord of patients. Although typically asymptomatic, malignancy occurs in the form of leptomeningeal melanoma in over half of patients. Regardless of the presence of malignancy, patients with symptomatic neurocutaneous melanosis generally have a poor prognosis with few treatment options. The pathogenesis of neurocutaneous melanosis is believed to be related to the abnormal postzygotic development of melanoblasts and mutations of the NRAS gene.
It results from cholesterol deposits in or hyalinosis of the corneal stroma, and may be associated with ocular defects or with familial hyperlipidemia. It is common in the apparently healthy middle aged and elderly; a prospective cohort study of 12,745 Danes followed up for a mean of 22 years found that it had no clinical value as a predictor of cardiovascular disease.
It can be a sign of disturbance in lipid metabolism, an indicator of conditions such as hypercholesterolemia, hyperlipoproteinemia or hyperlipidemia.
Unilateral arcus is a sign of decreased blood flow to the unaffected eye, due to carotid artery disease or ocular hypotony.
People over the age of 60 may present with a ring-shaped, grayish-white deposit of phospholipid and cholesterol near the peripheral edge of the cornea.
Younger people with the same abnormality at the edge of the cornea would be termed arcus juvenilis.
Conjunctival concretions are generally asymptomatic. Common symptoms include eye discomfort, eye irritation, and foreign body sensation. Sometimes, the larger, harder or multiple concretions make the rubbing off of the superficial layers of the conjunctiva or eyelids to cause conjunctival abrasion, especially prominent when upon blinking. In severe cases, dysfunction or inflammation of the Meibomian (Meibomianitis, an inflammation of the tarsal glands) glands may occur.