Achromatopsia, also known as Rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.

Reference
Wiki: Achromatopsia

    A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.

Reference
DiseaseOntology: age related macular degeneration

    Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur. Macular degeneration typically occurs in older people, and is caused by damage to the macula of the retina. Genetic factors and smoking may play a role. The condition is diagnosed through a complete eye exam. Severity is divided into early, intermediate, and late types. The late type is additionally divided into "dry" and "wet" forms, with the dry form making up 90% of cases. The difference between the two forms is categorized by the change in the macula. Those with dry form AMD have drusen, cellular debris in their macula that gradually damages light-sensitive cells and leads to vision loss. In wet form AMD, blood vessels grow under the macula, causing blood and fluid to leak into the retina. Exercising, eating well, and not smoking may reduce the risk of macular degeneration. There is no cure or treatment that restores the vision already lost. In the wet form, anti-VEGF medication injected into the eye or, less commonly, laser coagulation or photodynamic therapy may slow worsening. Dietary antioxidant vitamins, minerals, and carotenoids do not appear to affect the onset; however, dietary supplements may slow the progression in those who already have the disease. Age-related macular degeneration is a main cause of central blindness among the working-aged population worldwide. As of 2020, it affects more than 190 million people globally with the prevalence expected to increase to 288 million people by 2040 as the proportion of elderly persons in the population increases. It affects males and females equally, and it is more common in those of European or North American ancestry. In 2013, it was the fourth most common cause of blindness, after cataracts, preterm birth, and glaucoma. It most commonly occurs in people over the age of fifty and in the United States is the most common cause of vision loss in this age group. About 0.4% of people between 50 and 60 have the disease, while it occurs in 0.7% of people 60 to 70, 2.3% of those 70 to 80, and nearly 12% of people over 80 years old.

Reference
Wiki: Age-related macular degeneration

    Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder that is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with some ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome (kidney nephroblastoma (Wilms tumour), genitourinary anomalies and intellectual disability), or Gillespie syndrome (cerebellar ataxia).

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Wiki: Aniridia

    An eye disease where one or both eyeballs are abnormally small.

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DiseaseOntology: Anophthalmia and microphthalmia

    An eye disease where one or both eyeballs are abnormally small.

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DiseaseOntology: Anophthalmia-microphthalmia syndrome

    A congenital nystagmus characterized by autosomal recessive inheritance.

Reference
DiseaseOntology: autosomal recessive congenital nystagmus

    Axenfeld¨CRieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld¨CRieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis. Although the exact classification of this set of signs and symptoms is somewhat confusing in current scientific literature, most authors agree with the classification cited here. Axenfeld Anomaly is known as the development of a posterior embryotoxon, associated with strands of the iris adhered to a Schwalbe line that has been displaced anteriorly, which when added to glaucoma is called Axenfeld Syndrome. Rieger's Anomaly is defined by a universe of congenital anomalies of the iris, such as iris hypoplasia, corectopia or polycoria. When systemic findings are added to Rieger's anomaly, such as bone, facial and/or dental defects, it is known as Rieger syndrome. The combination of both entities gives rise to the Axenfeld-Rieger Anomaly when there are no systemic abnormalities and Axenfeld-Rieger Syndrome when there are. Axenfeld-Rieger Syndrome, is a rare disease that affects the eye bilaterally, with an estimated prevalence of 1/200,000 people, without gender predilection, and is characterized by autosomal dominant inheritance with complete penetrance of variable expressivity. The genes that have been identified in approximately 50% of cases are PITX2 and FOXC1. Given the important hereditary factor, it is important to evaluate the most direct members of the family. To explain the ocular alterations, there is a theory of the mechanism postulated by Shields et al., which implies an arrest in the migration of neural crest cells towards the third trimester of gestation, which leads to the persistence of primordial endothelial tissue in the iris and anterior chamber angle. Contraction of these membranes after birth lead to the progressive changes seen in some patients. This primordial endothelium also generates an excessive and atypical basement membrane, especially near the limbal corneal junction, which accounts for the prominent Schwalbe line. In the case of secondary glaucoma, it would be the consequence of dysgenesis in the chamber sinus.

Reference
Wiki: Axenfeld-Rieger syndrome

    Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram. Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma. It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11, and it has been described in less than 20 individuals from 10 families worldwide.

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Wiki: Bestrophinopathy

    Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive eye disease named after G. B. Bietti. BCD is a rare disease and appears to be more common in people with Asian ancestry.

Reference
Wiki: Bietti crystalline corneoretinal dystrophy

    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 (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.

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Wiki: Blepharophimosis

    A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.

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DiseaseOntology: Cataract

    B?rjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.

Reference
Wiki: Cataract-intellectual disability-hypogonadism syndrome

    Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,[2] the light-detecting tissue of the eye.[3] It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children.[4][5]

Reference
Wiki: Childhood cancer retinoblastoma

    Uveal melanoma is a type of eye cancer in the uvea of the eye.[3] It is traditionally classed as originating in the iris, choroid, and ciliary body, but can also be divided into class I (low metastatic risk) and class II (high metastatic risk).[3] Symptoms include blurred vision, loss of vision or photopsia, but there may be no symptoms.[4]

Reference
Wiki: Choroidal melanoma

    A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

Reference
DiseaseOntology: cone-rod dystrophy

    Congenital cataracts are a lens opacity that is present at birth. Congenital cataracts occur in a broad range of severity. Some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. Congenital cataracts may be unilateral or bilateral. They can be classified by morphology, presumed or defined genetic cause, presence of specific metabolic disorders, or associated ocular anomalies or systemic findings. Treatment options depend on the severity of the condition. For children under the age of two years old whose vision is affected by the cataracts in both eyes, surgical options include intraocular lens implantation or a lensectomy. Congenital cataracts are considered to be a significant cause of childhood blindness. This condition is considered 'treatable' with early intervention and compared to other types of childhood visual loss problems, however, in parts of the world where treatment options are not available such as some low-income countries, the condition may go untreated and the person may lose their vision. Early in life treatment is important, especially during development, in order that the person's eyes and visual system develops normally.

Reference
Wiki: Congenital cataract

    Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with CSNB often have difficulty adapting to low light situations due to impaired photoreceptor transmission. These patients may also have reduced visual acuity, myopia, nystagmus, and strabismus. CSNB has two forms -- complete, also known as type-1 (CSNB1), and incomplete, also known as type-2 (CSNB2), which are distinguished by the involvement of different retinal pathways. In CSNB1, downstream neurons called bipolar cells are unable to detect neurotransmission from photoreceptor cells. CSNB1 can be caused by mutations in various genes involved in neurotransmitter detection, including NYX. In CSNB2, the photoreceptors themselves have impaired neurotransmission function; this is caused primarily by mutations in the gene CACNA1F, which encodes a voltage-gated calcium channel important for neurotransmitter release. CSNB has been identified in horses and dogs as the result of mutations in TRPM1 (Horse, "LP"), GRM6 (Horse, "CSNB2"), and LRIT3 (Dog, CSNB). Congenital stationary night blindness (CSNB) can be inherited in an X-linked, autosomal dominant, or autosomal recessive pattern, depending on the genes involved. Two forms of CSNB can also affect horses, one linked to the leopard complex of equine coat colors and the other found in certain horse breeds. Both are autosomal recessives.

Reference
Wiki: Congenital stationary night blindness

    A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.

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DiseaseOntology: Congenital stromal corneal dystrophy

    A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.

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DiseaseOntology: Corneal endothelial dystrophy

    A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.

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DiseaseOntology: Diabetic cataract

    Diabetic retinopathy (also known as diabetic eye disease), is a medical condition in which damage occurs to the retina due to diabetes. It is a leading cause of blindness in developed countries. Diabetic retinopathy affects up to 80 percent of those who have had both type 1 and type 2 diabetes for 20 years or more. In at least 90% of new cases, progression to more aggressive forms of sight threatening retinopathy and maculopathy could be reduced with proper treatment and monitoring of the eyes. The longer a person has diabetes, the higher his or her chances of developing diabetic retinopathy. Each year in the United States, diabetic retinopathy accounts for 12% of all new cases of blindness. It is also the leading cause of blindness in people aged 20 to 64.

Reference
Wiki: Diabetic retinopathy

    Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund T¨¹rk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905.[2]

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Wiki: Duane retraction syndrome

    Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens.

Reference
Wiki: Ectopia lentis

    A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.

Reference
DiseaseOntology: enhanced S-cone syndrome

    Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism.[1] The disease has two forms:[2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency.[3]

Reference
Wiki: Fish-eye disease

    Fleck corneal dystrophy, also known as Francois-Neetens speckled corneal dystrophy, is a rare form of corneal dystrophy. It is caused by mutations in PIKFYVE gene. Small opacities, some of which resemble "flecks", are scattered in the stroma of the patients. Other opacities look more like snowflakes or clouds. The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients. In a single case report, a corneal transplantation was performed for concurrent keratoconus, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.

Reference
Wiki: Fleck corneal dystrophy

    An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.

Reference
DiseaseOntology: Glaucoma

    Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter[1] and is characterized by congenital cataract (or cataracts that begin in the first two months of life), psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy.[2]

Reference
Wiki: Hypomyelination and congenital cataract

    Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of nystagmus: pathological and physiological, with variations within each type. Nystagmus may be caused by congenital disorder or sleep deprivation, acquired or central nervous system disorders, toxicity, pharmaceutical drugs, alcohol, or rotational movement. Previously considered untreatable, in recent years several drugs have been identified for treatment of nystagmus. Nystagmus is also occasionally associated with vertigo.

Reference
Wiki: Infantile nystagmus

    Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose. Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is currently unknown and there are no known treatments.

Reference
Wiki: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

    Uveal melanoma is a type of eye cancer in the uvea of the eye. It is traditionally classed as originating in the iris, choroid, and ciliary body, but can also be divided into class I (low metastatic risk) and class II (high metastatic risk). Symptoms include blurred vision, loss of vision or photopsia, but there may be no symptoms. Tumors arise from the pigment cells that reside within the uvea and give color to the eye. These melanocytes are distinct from the retinal pigment epithelium cells underlying the retina that do not form melanomas. When eye melanoma is spread to distant parts of the body, the five-year survival rate is about 15%. It is the most common type of primary eye cancer. Males and females are affected equally. More than 50% spread, mostly to the liver.

Reference
Wiki: Intraocular melanoma

    A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.

Reference
DiseaseOntology: Keratoconus

    Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008.

Reference
Wiki: Leber congenital amaurosis

    Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur. Macular degeneration typically occurs in older people, and is caused by damage to the macula of the retina. Genetic factors and smoking may play a role. The condition is diagnosed through a complete eye exam. Severity is divided into early, intermediate, and late types. The late type is additionally divided into "dry" and "wet" forms, with the dry form making up 90% of cases. The difference between the two forms is categorized by the change in the macula. Those with dry form AMD have drusen, cellular debris in their macula that gradually damages light-sensitive cells and leads to vision loss. In wet form AMD, blood vessels grow under the macula, causing blood and fluid to leak into the retina. Exercising, eating well, and not smoking may reduce the risk of macular degeneration. There is no cure or treatment that restores the vision already lost. In the wet form, anti-VEGF medication injected into the eye or, less commonly, laser coagulation or photodynamic therapy may slow worsening. Dietary antioxidant vitamins, minerals, and carotenoids do not appear to affect the onset; however, dietary supplements may slow the progression in those who already have the disease. Age-related macular degeneration is a main cause of central blindness among the working-aged population worldwide. As of 2020, it affects more than 190 million people globally with the prevalence expected to increase to 288 million people by 2040 as the proportion of elderly persons in the population increases. It affects males and females equally, and it is more common in those of European or North American ancestry. In 2013, it was the fourth most common cause of blindness, after cataracts, preterm birth, and glaucoma. It most commonly occurs in people over the age of fifty and in the United States is the most common cause of vision loss in this age group. About 0.4% of people between 50 and 60 have the disease, while it occurs in 0.7% of people 60 to 70, 2.3% of those 70 to 80, and nearly 12% of people over 80 years old.

Reference
Wiki: Macular degeneration

    Macular dystrophy may refer to any of these eye diseases: Macular corneal dystrophy, a rare pathological condition Macular degeneration, or age-related macular degeneration Vitelliform macular dystrophy, an irregular autosomal dominant eye disorder

Reference
Wiki: Macular dystrophy

    An eye disease where one or both eyeballs are abnormally small.

Reference
DiseaseOntology: Microphthalmia

    A refractive error characterized by the inability to see farther objects clearly.

Reference
DiseaseOntology: Myopia

    Nyctalopia (; from Ancient Greek ¦Í?¦Ê¦Ó- (n¨²kt-) 'night', ?¦Ë¦Á?? (ala¨®s) 'blind, invisible', and ?¦× (¨®ps) 'eye'), also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition (for example, vitamin A deficiency). It can be described as insufficient adaptation to darkness. The most common cause of nyctalopia is retinitis pigmentosa, a disorder in which the rod cells in the retina gradually lose their ability to respond to the light. Patients with this genetic condition have progressive nyctalopia and eventually, their daytime vision may also be affected. In X-linked congenital stationary night blindness, from birth the rods either do not work at all, or work very little, but the condition does not get worse. Another cause of night blindness is a deficiency of retinol, or vitamin A1, found in fish oils, liver and dairy products. The opposite problem, the inability to see in bright light, is known as hemeralopia and is much rarer. Since the outer area of the retina is made up of more rods than cones, loss of peripheral vision often results in night blindness. Individuals with night blindness not only see poorly at night but also require extra time for their eyes to adjust from brightly lit areas to dim ones. Contrast vision may also be greatly reduced. Rods contain a receptor-protein called rhodopsin. When light falls on rhodopsin, it undergoes a series of conformational changes ultimately generating electrical signals which are carried to the brain via the optic nerve. In the absence of light, rhodopsin is regenerated. The body synthesizes rhodopsin from vitamin A, which is why a deficiency in vitamin A causes poor night vision. Refractive "vision correction" surgery (especially PRK with the complication of "haze") may rarely cause a reduction in best night-time acuity due to the impairment of contrast sensitivity function (CSF) which is induced by intraocular light-scatter resulting from surgical intervention in the natural structural integrity of the cornea.

Reference
Wiki: Nyctalopia

    Fortunately, in the absence of a definite diagnosis, ocular surface diseases can usually still be managed effectively, provided the choice of approach and therapy is based on the functional effects observed and their severity. It is therefore important to have a systematic approach to the identification of functional effects and their severity (see Figure 2). Many of these functional effects are susceptible to a range of therapies, as discussed below.

Reference
Pubmed: Occular surface disease

    Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.:?865? Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.

Reference
Wiki: ocular albinism

    Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.:?864? Oculocutaneous albinism is also found in non-human animals.

Reference
Wiki: oculocutaneous albinism

    An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.

Reference
DiseaseOntology: Optic atrophy

    Glaucoma is a group of eye diseases that lead to damage of the optic nerve, which transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as intraocular pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or medications. The word glaucoma comes from the Ancient Greek word ¦Ã¦Ë¦Á¦Ô¦Ê?? (glauk¨®s), meaning 'gleaming, blue-green, gray'. There are different types of glaucoma, but the most common are called open-angle glaucoma and closed-angle glaucoma. Inside the eye, a liquid called aqueous humor helps to maintain shape and provides nutrients. The aqueous humor normally drains through the trabecular meshwork. In open-angle glaucoma, the draining is impeded, causing the liquid to accumulate and pressure inside the eye to increase. This elevated pressure can damage the optic nerve. In closed-angle glaucoma, the drainage of the eye becomes suddenly blocked, leading to a rapid increase in intraocular pressure. This may lead to intense eye pain, blurred vision, and nausea. Closed-angle glaucoma is an emergency requiring immediate attention. If treated early, it is possible to slow or stop the progression of glaucoma. Regular eye examinations, especially if the person is over 40 or has a family history of glaucoma, are essential for early detection. Treatment typically includes prescription of eye drops, medication, laser treatment or surgery. The goal of these treatments is to decrease eye pressure. About 80 million people worldwide have glaucoma, with 50% unaware that they are affected. It is the leading cause of blindness in African Americans, Hispanic Americans, and Asians. It occurs more commonly among older people, and closed-angle glaucoma is more common in women. Worldwide, glaucoma is the second-leading cause of blindness after cataracts, and is the leading cause of irreversible blindness worldwide.

Reference
Wiki: Primary open angle glaucoma

    Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is by eye examination of the retina finding dark pigment deposits caused by the rupture of the underlying retinal pigmented epithelial cells, given that these cells contain a pigment known as melanin. Other supportive testing may include the electroretinogram (ERG), visual field testing (VFT), ocular coherence tomography (OCT) and DNA testing to determine the gene responsible for a person's particular type of RP (now called Inherited Retinal Dystrophy (IRD)). There is currently no cure for retinitis pigmentosa. Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training. Vitamin A palmitate supplements may be useful to slow worsening. A visual prosthesis may be an option in certain people with severe disease. Currently there is only one FDA-approved gene therapy that is commercially available to RP patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has been found to effectively work in about 50% of the patients who receive the therapy. The earlier the child receives the RPE65 therapy the better the chances for a positive outcome. There are many other therapies being researched at this time with the goal of being approved in the next few years. It is estimated to affect 1 in 4,000 people.

Reference
Wiki: Retinal dystrophy

    Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is by eye examination of the retina finding dark pigment deposits caused by the rupture of the underlying retinal pigmented epithelial cells, given that these cells contain a pigment known as melanin. Other supportive testing may include the electroretinogram (ERG), visual field testing (VFT), ocular coherence tomography (OCT) and DNA testing to determine the gene responsible for a person's particular type of RP (now called Inherited Retinal Dystrophy (IRD)). There is currently no cure for retinitis pigmentosa. Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training. Vitamin A palmitate supplements may be useful to slow worsening. A visual prosthesis may be an option in certain people with severe disease. Currently there is only one FDA-approved gene therapy that is commercially available to RP patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has been found to effectively work in about 50% of the patients who receive the therapy. The earlier the child receives the RPE65 therapy the better the chances for a positive outcome. There are many other therapies being researched at this time with the goal of being approved in the next few years. It is estimated to affect 1 in 4,000 people.

Reference
Wiki: Retinitis pigmentosa

    A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Reference
Wiki: Rod-cone dystrophy

    Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene.

Reference
Wiki: Schnyder crystalline corneal dystrophy

    An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Reference
DiseaseOntology: Stargardt disease

    Usher syndrome, also known as Hallgren syndrome, Usher¨CHallgren syndrome, retinitis pigmentosa¨Cdysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the most common cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish populations. Usher syndrome is named after Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of the syndrome in 1914.

Reference
Wiki: Usher syndrome

    A uveal cancer that has_material_basis_in uvea pigment cells.

Reference
DiseaseOntology: Uveal melanoma

    An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.

Reference
DiseaseOntology: Visual impairment and progressive phthisis bulbi

    Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The condition is characterized by yellow (or orange), slightly elevated, round structures similar to the yolk (Latin vitellus) of an egg.

Reference
Wiki: Vitelliform macular dystrophy

    Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ). The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases. The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans. In humans, they function as calcium-activated anion channels, each of which has a unique tissue distribution throughout the body. Specifically, the BEST1 gene on chromosome 11q13 encodes the Bestrophin-1 protein in humans whose expression is highest in the retina.

Reference
Wiki: Vitreoretinochoroidopathy

    Autosomal dominant neovascular inflammatory vitreoretinopathy (VRNI) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992).

Reference
OMIM: Vitreoretinopathy

    Wagner's disease is a familial disease of the eye that can cause reduced visual acuity. Wagner's disease was originally described in 1938. This disorder was frequently confused with Stickler syndrome, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.

Reference
Wiki: Wagner syndrome

    Weill¨CMarchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866¨C1952) and Oswald Marchesani (1900¨C1952) who first described it in 1932 and 1939, respectively. The eye manifestations typically include unusually small, round lenses of the eyes (microspherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Weill¨CMarchesani syndrome may have autosomal recessive inheritance involving the ADAMTS10 gene, or autosomal dominant inheritance involving the FBN1 gene. In some cases there is no association with either of these genes.

Reference
Wiki: Weill-Marchesani syndrome