Choroiditis
Choroiditis means inflammation in the choroid, which is a thin, rich blood-vessel layer under the retina at the back of the eye. This layer feeds the retina and helps it stay healthy. When the ...
Choroiditis means inflammation in the choroid, which is a thin, rich blood-vessel layer under the retina at the back of the eye. This layer feeds the retina and helps it stay healthy. When the ...
Tapetochoroidal dystrophy is another name that has been used for choroideremia, an inherited eye disease that slowly damages the light-sensing retina and the layer under it (the retinal pigment ...
Choroideremia is a rare eye disease that slowly takes away sight over many years. It mainly affects boys and men because the problem gene is on the X chromosome. In this disease, three important eye ...
Regional choroidal atrophy and alopecia (also called Moloney syndrome or choroidal atrophy–alopecia syndrome) is a very rare inherited condition. In this condition, part of the choroid (the ...
Choroidal atrophy–alopecia syndrome is an extremely rare genetic condition in which a person has both damage and thinning of the choroid in the eye and loss of hair on the scalp or body. The choroid ...
Chorioretinitis is swelling and irritation (inflammation) of two important layers at the back of the eye: the choroid (a layer rich in blood vessels) and the retina (the light-sensitive layer that ...
Channelopathy-associated congenital insensitivity to pain is a very rare genetic condition where a person is born unable to feel physical pain, even when the body is badly hurt. ...
Posterior membrane corneal dystrophy is a rare eye disease that mainly affects the deepest layer of the clear front window of the eye (the cornea) and the thin sheet under it called Descemet’s ...
Endothelial corneal dystrophy is a long-lasting eye disease that mainly damages the inner cell layer of the cornea, called the corneal endothelium. These cells normally act like a tiny pump to keep ...
Dystrophy of the corneal endothelium is a long-lasting (chronic) disease of the inner layer of the clear front window of the eye, called the cornea. In this condition, the special pump cells in this ...
Chandler syndrome is a rare eye disease that affects the clear front window of the eye (the cornea), the colored part (the iris), and the drainage angle where fluid leaves the eye. It is one of three ...
Central serous retinopathy (CSR) is an eye disease where fluid collects under the central part of the retina and makes central vision blurry or distorted. It usually affects one eye at a time and ...
Central serous choroidopathy, more commonly called central serous chorioretinopathy (CSC), is an eye disease that affects the macula, the central part of the retina that gives sharp, detailed vision. ...
Central serous chorioretinopathy is an eye disease where fluid leaks from tiny blood vessels under the retina (the light-sensitive “camera film” at the back of the eye). This fluid collects under the ...
Central cloudy dystrophy of François (often shortened to CCDF) is a very rare corneal condition where the clear window of the eye (the cornea) develops faint, gray, cloudy “mosaic-like” spots in the ...
Central cloudy corneal dystrophy of François (CCDF) is a very rare problem of the cornea (the clear “window” at the front of the eye). In CCDF, doctors see many small, cloudy gray shapes (often ...
Choroidal dystrophy means a long-term (usually lifelong) problem where the choroid slowly becomes damaged. The choroid is the blood-vessel layer that sits between the white part of the eye (sclera) ...
Central areolar choroidal sclerosis is an older name that doctors used for a rare inherited (genetic) macular disease now most often called central areolar choroidal dystrophy (CACD). It mainly ...
Congenital cataract caused by mutation in EPHA2 is a genetic eye disease where the clear lens of a baby’s eye becomes cloudy because the EPHA2 gene does not work properly. The lens sits behind the ...
Cataract 6 Multiple Types is a condition where the clear lens inside the eye becomes cloudy, like frosted glass, so light cannot pass through cleanly. This clouding slowly reduces sharp vision and ...
Cataract 40 with or without microcornea means a visually significant cataract (cloudy natural lens) in someone around 40 years old, sometimes in an eye with a small cornea (microcornea). A cataract ...
Cataract 4 multiple types with or without microcornea means there is a cloudy lens inside the eye (cataract), and in some people the clear front window of the eye (the cornea) is smaller than normal ...
A Cataract 4 Multiple Types is a health problem of the eye where the clear natural lens becomes cloudy. The lens sits behind your colored part of the eye (iris) and focuses light so you can see ...
A Cataract 35 is a problem of the eye in which the clear natural lens becomes cloudy. The lens sits behind the pupil and focuses light onto the retina so we can see clearly. When the lens turns ...
CTRCT Related Anterior Polar Cataracts Types 32 are small, white or gray opacities on the front (anterior) surface of the lens. They are usually congenital or early-onset and often stay small, but ...
A Cataract 32 is a clouding of the natural clear lens inside the eye. The lens normally works like a clear window and a camera focus system. It bends light and helps make a sharp image on the retina ...
Cataract 31 multiple types is a cloudy or opaque area inside the natural lens of your eye. The lens normally is clear and works like a camera lens, focusing light onto the retina so you can see a ...
Autosomal recessive congenital cataract 2 is a rare eye disease where the clear lens inside a baby’s eye becomes cloudy from birth or very early life because of a genetic change. The clouding blocks ...
Cataract 18 is a cloudy or opaque area in the natural lens of the eye, the clear structure that normally focuses light onto the retina to create a sharp image. When the lens becomes cloudy, light ...
PITX3 early-onset non-syndromic cataract is a rare genetic eye condition where a baby or young child develops a cloudy lens (cataract) because of harmful changes (mutations) in the PITX3 gene, but ...
A cataract is a health condition where the clear natural lens inside your eye becomes cloudy, so light cannot pass through properly and your vision slowly becomes blurred or foggy. Doctors may also ...
Congenital cataract-microcornea syndrome is a rare genetic eye disease in which a baby is born with a cloudy lens (congenital cataract) and an unusually small cornea (microcornea), usually with no ...
Benign inoculation lymphoreticulosis; benign lymphoreticulosis, also called benign lymphoreticulosis, is an older medical name for what we now usually call cat-scratch disease (CSD). It is a ...
Butterfly-shaped pigmentary macular dystrophy (often shortened to “butterfly-shaped pattern dystrophy”) is a rare, inherited eye condition. It affects the macula, the central part of the retina that ...
Butterfly-shaped pattern dystrophy is a rare, inherited eye condition that mainly affects the macula, the sharp-vision center of the retina. In this condition, tiny waste products (mostly the pigment ...
Hereditary Bullous Dystrophy, Macular Type is a rare eye disease that you are born with. It mainly affects the clear front window of the eye called the cornea. Over many years, cloudy material builds ...
Macular corneal dystrophy (MCD) is an inherited eye disease where cloudy deposits develop in the clear front window of the eye (the cornea). These gray-white spots sit in the middle layer (stroma) ...
Brittle cornea syndrome type 1 (BCS1) is a very rare, inherited connective-tissue disorder where the clear front window of the eye (the cornea) is extremely thin and fragile. Because the cornea is so ...
Brittle cornea syndrome is a very rare inherited disorder that makes the clear front window of the eye (the cornea) extremely thin and fragile. Because the cornea is so thin, it can bulge, tear, or ...
Prolonged electroretinal response suppression (PERRS) is a rare eye condition. After light shines in the eye, the retina should recover quickly. In PERRS, the retina recovers slowly. This slow ...
Difficulty seeing moving objects means a person can see still things fairly well, but when things move, they are hard to detect, follow, or judge. Some people describe the world as if it “jumps” or ...
Bradyopsia means “slow vision.” People with this condition have very slow adjustment when light changes. When they come out of a dark room into bright light, they may be “blinded” for many seconds. ...
Västerbotten dystrophy is a rare inherited eye disease that damages the retina and gradually reduces vision. It usually begins in childhood with night blindness, then causes progressive macular ...
Bothnia retinal dystrophy (BRD) is a rare, inherited eye disease. It usually begins in childhood with night blindness and very slow dark adaptation. Over time, people lose side (peripheral) vision ...
Bosch-Boonstra-Schaaf optic atrophy–intellectual disability syndrome (BBSOAS / NR2F1-related disorder) written in very simple English. BBSOAS is a rare, genetic condition caused by a harmful change ...
Tritanomaly is a blue–yellow color vision deficiency. Your eye has three kinds of cone cells to see color: red-sensing (L), green-sensing (M), and blue-sensing (S). In tritanomaly, the S-cones are ...
A tritan defect is a problem with seeing and separating colors along the blue–yellow line. It happens when the short-wavelength (S) cones in the retina do not work normally. These cones are the cells ...
Tritan colour blindness is a problem with telling blue from green and yellow from violet. In this condition, the short-wavelength cone cells in the retina (called S-cones) do not work normally. Some ...
Tritan color blindness is a problem with seeing blue and yellow correctly. It happens when the S-cones (short-wavelength cones) in the retina—or the blue-sensitive light pigment they use—don’t work ...
Dyschromatopsia means a problem seeing or telling colors apart. Colors may look faded, washed-out, wrong, or all very similar. Some people are born with it (congenital). Others develop it later in ...
Congenital tritanopia is a very rare, inherited color-vision condition. People with tritanopia cannot see blue and yellow in the normal way. The problem sits in the eye’s short-wavelength cones ...
A blue/yellow color vision defect means the eye and brain have trouble telling blue from green and yellow from violet. In the classic form (called “tritan”), the problem sits in the S-cones (the ...
Blue-yellow dyschromatopsia is a problem in seeing or separating blue from yellow hues. In the inherited form, the short-wavelength (blue-sensing) cone cells in the retina are missing or don’t work ...
Blue color blindness is a problem with seeing short-wavelength (“blue”) light accurately. It happens when the S-cones (the blue-sensitive cone cells in the retina) don’t work normally or are missing. ...
Blindness–Scoliosis–Arachnodactyly syndrome is a very rare genetic condition that mainly affects the eyes and the skeleton. People develop progressive vision loss that can lead to blindness, together ...
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome (BPES) is a rare condition that affects the eyelids from birth. The eye openings are narrow from side to side (blepharophimosis). There is a skin ...
Blepharophimosis–intellectual disability syndrome, Ohdo type is a very rare, present-from-birth condition. Children have narrow eye openings (blepharophimosis), droopy eyelids (ptosis), and learning ...
Blepharophimosis–intellectual disability syndrome, Maat-Kievit-Brunner type (often shortened to “MKB type”) is a very rare genetic condition. Children have narrow eye openings (blepharophimosis) and ...
Vitiliginous choroiditis is a long-lasting inflammation inside the back of the eye. It mainly affects the choroid (the layer that feeds the retina) and the retina (the light-sensing layer). The ...
Vitiliginous chorioretinitis is a long-lasting inflammation in the back of the eye. It mainly affects the choroid (the blood-rich layer under the retina) and the retina itself. Doctors see many pale, ...
Birdshot retinochoroidopathy is a rare, long-lasting inflammation that affects the back of both eyes. The problem lives in two layers: the retina (the light-sensing tissue) and the choroid (the ...
Birdshot retinochoroiditis is a rare, long-lasting eye inflammation. It affects the back of the eye (the retina and the choroid). Doctors see many small, creamy, pale spots in both eyes. These spots ...
Birdshot lesions” are many small, cream-colored spots in the deeper eye layers (the choroid and retina). They are usually oval and radiate out from the optic disc toward the mid-periphery, often in ...
Birdshot choroidal lesions are pale, oval or round spots deep in the back of the eye. They sit in the choroid, which is the layer that feeds the retina. These spots look “cream-colored,” often around ...
Birdshot chorioretinitis is a rare, long-lasting (chronic) inflammation inside both eyes. It mainly affects the back of the eye: the choroid (the blood-vessel layer under the retina) and the retina ...
Birdshot chorioretinopathy (BCR) is a rare, long-lasting inflammation inside both eyes. It affects the choroid (the blood-rich layer under the retina) and the retina (the light-sensing layer). ...
Bilateral Acute Depigmentation of the Iris (BADI) is a rare eye condition where both irises suddenly lose their brown/blue/green color in patches or diffusely. The pigment that normally sits in the ...
Bietti crystalline retinopathy (BCR)—also called Bietti crystalline corneoretinal dystrophy—is a rare, inherited eye disease. Tiny yellow-white crystals and lipid deposits gradually build up in the ...
Bietti crystalline corneoretinal dystrophy is a rare, inherited eye disease. Tiny yellow-white crystals made of lipids (fats) collect in the retina and sometimes in the cornea. Over time, the ...
Ouvrier–Billson syndrome is a rare neuro-ophthalmic condition in babies and young children. During “spells,” the child’s eyes hold a fixed upward gaze, often for minutes to hours. Looking down is ...
Neuroocular syndrome 2, paroxysmal type (NOC2)”—a disorder best known for recurrent upward eye deviation (or vertical nystagmus) with abnormal head posturing from infancy, often with ataxia (unsteady ...
Benign concentric annular macular dystrophy (BCAMD) is a rare, inherited eye condition that slowly changes the macula—the central part of the retina that gives sharp, detailed vision. “Benign” here ...
Hemifacial hyperplasia-strabismus syndrome is a very rare condition where one side of the face grows more than the other, and the person also has eye misalignment (strabismus)—most often the eyes ...
Oculo-cerebral dysplasia describes very rare developmental conditions present from birth in which eye structures and the brain form abnormally, often alongside other issues like muscle tone problems, ...
Behrens-Baumann-Vogel syndrome is a very rare birth condition that affects the eyes and the brain. Babies are born with very small eyes (microphthalmia) and severe problems in the optic nerve (the ...
Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that mainly affects the front part of the eye (the “anterior segment”). It changes the way the iris, cornea, and fluid-drainage angle form ...
Combined Granular-Lattice Corneal Dystrophy Type 2 is an inherited corneal dystrophy caused most commonly by the R124H mutation in the TGFBI (TGFBIp) gene. Abnormal protein deposits form in the clear ...
Avellino corneal dystrophy is a genetic eye condition. A change (mutation) in the TGFBI gene makes a sticky, abnormal protein collect in the clear front window of the eye (the cornea). Over many ...
Progressive external ophthalmoplegia (PEO) is a mitochondrial muscle condition where the muscles that move the eyes slowly become weak. Over years, people develop droopy eyelids (ptosis) and reduced ...
Retinopathy, Burgess-Black type is a rare, inherited eye disease caused by harmful changes (mutations) in both copies of a gene called BEST1. This gene helps the retinal pigment epithelium (RPE)—a ...
Bestrophinopathy is an umbrella term for several inherited eye conditions caused by changes (variants) in a gene called BEST1. This gene helps retinal pigment epithelium (RPE) cells regulate ions and ...
Autosomal recessive bestrophinopathy (ARB) is a rare, inherited eye disease. It happens when a child receives two faulty copies of a gene called BEST1—one from each parent. The BEST1 gene makes a ...
Vitreoretinochoroidopathy with microcornea is a rare, inherited eye disease in which several parts of the eye develop and function abnormally. The back of the eye (the retina and choroid) slowly ...
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) with nanophthalmos is a rare, inherited eye disorder. “Autosomal dominant” means a single changed gene from one parent can cause the condition in ...
Autosomal Dominant Vitreoretinochoroidopathy—usually shortened to ADVIRC—is a very rare, inherited eye disease caused by a change (pathogenic variant) in the BEST1 gene. It mainly affects the retinal ...
Rhegmatogenous retinal detachment happens when a tear or hole in the retina lets the eye’s gel (vitreous) leak under the retina. Fluid collects under the retina and lifts it off the back wall of the ...
Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome is a pattern of problems caused by faulty cell “power plants” (mitochondria) or proteins that shape and maintain them. The optic nerve ...
Autosomal dominant optic atrophy and peripheral neuropathy syndrome is a rare genetic condition where the optic nerves (the cables that carry visual signals from the eyes to the brain) slowly waste ...
Autosomal dominant optic atrophy with peripheral neuropathy (ADOA-PN / “DOA+ with neuropathy”) is a rare genetic disorder. It mostly damages the optic nerve, the cable that carries visual signals ...
Vitreoretinopathy is an umbrella term for diseases where the vitreous gel (the clear jelly filling the eye) and the retina (the light-sensing layer lining the back of the eye) are both involved. In ...
Retinitis proliferans is an old medical term that means new, abnormal blood vessels growing on the retina. The retina is the light-sensing layer at the back of the eye. These fragile vessels grow ...
CAPN5 vitreoretinopathy is a rare, inherited eye disease caused by harmful changes (variants) in the CAPN5 gene. The disease follows an autosomal dominant pattern—one altered copy of the gene is ...
Oculomotor apraxia (OMA) means the brain has trouble starting fast eye movements called saccades, especially when trying to look to the side on purpose. People often thrust or turn their head first, ...
Chorioretinal dystrophy is a group of inherited eye conditions in which the retina (the light-sensing layer) and the choroid (the blood-rich layer behind the retina) slowly degenerate over time. ...
Ataxia with oculomotor apraxia type 3 is a very rare, inherited brain and nerve disorder. “Ataxia” means poor balance and clumsy, unsteady movements. “Oculomotor apraxia” means trouble starting fast ...
PNKP oculomotor apraxia is a rare, inherited brain and nerve disorder. It mainly affects how the eyes start a quick movement called a “saccade.” In daily life, people struggle to quickly look toward ...
Ataxia-oculomotor apraxia type 4 (AOA4) is a rare, inherited brain and nerve disorder. It mainly harms the cerebellum (the balance and coordination center) and nearby wiring. Children usually start ...
Poretti-Boltshauser syndrome (PBS) is a rare, autosomal recessive neuro-ophthalmologic disorder caused by pathogenic variants in the LAMA1 gene, which encodes laminin α1, a structural protein ...
Blepharochalasis is a rare eyelid condition where the eyelids swell from time to time without pain. These “attacks” usually start in childhood or the teen years. Each flare lasts a short time (often ...
Ascher syndrome is a very rare, benign condition. It is best known for a “triad” of three findings: repeated swelling and loosening of the upper eyelids (called blepharochalasis), a double upper lip ...
Lethal ataxia with deafness and optic atrophy (Arts syndrome) is a rare, inherited metabolic–neurologic disease. Babies—usually boys—develop weak muscle tone, poor balance and coordination (ataxia), ...
Anterior segment dysgenesis (ASD) is a group of birth-time eye problems where the front parts of the eye—the cornea, iris, lens, drainage angle, and ciliary body—do not form in the usual way during ...
Iridogoniodysgenesis means the colored part of the eye (the iris) and the drainage angle inside the eye (iridocorneal angle or “gonio” region) did not develop normally before birth. When this ...
Autosomal dominant iridogoniodysgenesis (IGDS) is a rare, inherited eye condition where parts at the front of the eye do not develop normally before birth. The main problem is under-development of ...
Anterior segment dysgenesis is an umbrella term for a group of eye conditions that happen when the front part of the eye does not form normally before birth. The “front part” (anterior segment) ...
Ischemic Optic Neuropathy (ION) means sudden vision loss because blood flow to the optic nerve is reduced or blocked. It comes in two main locations: anterior (AION: the front part of the nerve head ...
Anterior ischemic optic neuropathy (AION) is a sudden drop in vision caused by reduced blood flow to the front part of the optic nerve (the “cable” that carries images from your eye to your brain). ...
Anterior segment dysgenesis (ASD) is a group of birth (congenital) conditions where the front parts of the eye—the cornea, iris, lens, and the drainage angle—do not develop normally before birth. ...
Anterior chamber cleavage disorder (anterior segment dysgenesis, ASD) is a group of birth conditions where the front part of the eye (the cornea, iris, lens, and the fluid drainage angle) does not ...
Syndromic microphthalmia type 3 (MCOPS3) is a rare genetic condition in which a baby is born with very small eyes (microphthalmia) or no visible eye tissue (anophthalmia), plus other body findings, ...
Cassia Stocco dos Santos syndrome is an extremely rare condition present from birth that affects several body systems at the same time. Babies with this syndrome typically have serious eye problems ...
Microphthalmia means a baby is born with one or both eyes that are abnormally small because eye development was interrupted before birth. It exists on a spectrum with anophthalmia (when an eye does ...