Disease Profiles

Achromatopsia is a rare, inherited retinal disorder characterized by the complete or partial absence of cone photoreceptor function, leading to severe visual impairment from birth. Individuals experience extreme light sensitivity, poor visual acuity, and complete color blindness.

Alagille syndrome is a rare genetic condition that can affect multiple parts of the body, most notably the liver and the heart. In people with this syndrome, the liver has fewer bile ducts than normal. Bile ducts are tubes that carry bile, a fluid that helps digest fats, from the liver to the gallbladder and small intestine. Because there are too few of these ducts, bile builds up in the liver, causing liver damage, yellowing of the skin and eyes (jaundice), and severe itching. The condition c

Alström Syndrome is a rare, inherited multi-system disorder characterized by progressive vision loss, hearing loss, obesity, and type 2 diabetes. It affects various organs, leading to significant health challenges from early childhood.

Autosomal Dominant Optic Atrophy (ADOA) is a genetic eye condition that causes a slow, gradual loss of vision. It is the most common inherited disorder affecting the optic nerve, which is the cable that sends visual information from the eye to the brain. The condition usually begins in childhood, often before the age of 10, but the vision changes happen so slowly that many people don't notice exactly when they started. In ADOA, the cells in the eye that connect to the optic nerve slowly stop w

Autosomal Dominant Vitreoretinochoroidopathy, or ADVIRC, is a very rare genetic eye condition that affects how the eye develops and functions. It is caused by a change (mutation) in a specific gene called BEST1, which is responsible for making a protein that helps keep the cells in the back of the eye healthy. In ADVIRC, this protein doesn't work correctly, leading to problems in several parts of the eye, including the clear gel inside the eye (the vitreous), the light-sensitive layer at the bac

Bardet-Biedl Syndrome (BBS) is a rare, multisystem genetic disorder characterized by retinal degeneration, obesity, intellectual disability, kidney abnormalities, extra fingers/toes (polydactyly), and hypogonadism. It is a ciliopathy, meaning it results from defects in cilia, which are essential cellular structures.

Batten disease, specifically the juvenile form known as CLN3 disease, is a rare and severe genetic disorder that affects the nervous system. Children with this condition usually grow and develop normally in their early years. However, between the ages of 5 and 15, they begin to experience a rapid and progressive loss of vision. This vision loss is often the first sign of the disease and happens because the light-sensing cells in the eyes slowly stop working. Unfortunately, this eventually leads

Benign fleck retina is a very rare, inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye. In this condition, an eye doctor looking into the eye will see a striking pattern of tiny, yellow-white spots or "flecks" scattered across the retina. These flecks are caused by a buildup of certain materials in the cells that support the retina, due to a specific genetic change inherited from both parents. The most important thing for patients to know about be

Best disease, also known as Best vitelliform macular dystrophy (BVMD), is an inherited retinal disorder characterized by the accumulation of lipofuscin in the retinal pigment epithelium (RPE) beneath the macula, leading to progressive central vision loss. Also called vitelliform macular dystrophy.

Bietti Crystalline Dystrophy (BCD) is a rare, progressive inherited retinal disease characterized by the accumulation of glistening yellow-white crystals in the retina and cornea, leading to vision loss. It affects both rod and cone photoreceptors.

Blue Cone Monochromatism (BCM) is a rare, inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye. In a normal eye, there are three types of cone cells responsible for daylight vision, sharp details, and seeing colors: red, green, and blue cones. In people with BCM, the red and green cones do not work properly, leaving only the blue cones and the rod cells (which are used for night vision) to process light. Because it is passed down on the X chromosome,

Bothnia Dystrophy is a rare, inherited eye condition that causes progressive vision loss. It is most commonly found in the Västerbotten region of northern Sweden. The condition affects the retina, the light-sensitive tissue at the back of the eye, by disrupting the visual cycle—the process that allows the eye to adapt to different light levels. Patients typically experience night blindness from early childhood, meaning they have significant difficulty seeing in low light or dark environments. A

Choroideremia is a rare, X-linked inherited retinal disease primarily affecting males, causing progressive vision loss due to degeneration of the choroid, retinal pigment epithelium (RPE), and retina. It typically leads to blindness by mid-adulthood.

Cockayne Syndrome (CS) is a rare, severe neurodegenerative disorder characterized by premature aging, developmental delays, and sensitivity to sunlight. It often leads to progressive vision and hearing loss, and typically results in a shortened lifespan.

Cohen syndrome is a rare genetic condition that affects many parts of the body, including physical growth, vision, and learning abilities. Children with this condition usually experience delays in reaching developmental milestones like rolling over, sitting, walking, and talking. They often have weak muscle tone (hypotonia) as babies, which can cause feeding difficulties. As they grow, they typically develop a smaller-than-average head size, joint flexibility, and a specific pattern of weight ga

Cone-rod dystrophy (CRD) is a group of inherited retinal disorders characterized by primary dysfunction and degeneration of cone photoreceptors, followed by secondary rod involvement. This leads to progressive vision loss, starting with impaired color vision and central acuity.

Congenital Stationary Night Blindness (CSNB) is a group of non-progressive inherited retinal disorders characterized by impaired night vision from birth. It results from a dysfunction in the photoreceptor or bipolar cell signaling pathways.

Dominant drusen, also known as Doyne honeycomb retinal dystrophy or Malattia Leventinese, is a rare, inherited macular dystrophy characterized by the accumulation of drusen (yellowish deposits) beneath the retina, primarily in the macula. It leads to progressive vision loss, typically starting in adulthood.

Severe Early Childhood Onset Retinal Dystrophy (SECORD) is a rare, inherited eye condition that causes severe vision loss beginning in early childhood, usually before a child turns 5 years old. It is closely related to another condition called Leber Congenital Amaurosis (LCA), but children with SECORD often have slightly better vision in their early years. The condition primarily affects the retina, the light-sensitive tissue at the back of the eye, leading to symptoms like severe night blindnes

Enhanced S-cone Syndrome (ESCS) is a rare, inherited retinal disorder characterized by an overabundance and abnormal function of S-cones (blue light-sensing photoreceptors), leading to progressive vision loss.

Familial drusen refers to a group of inherited conditions characterized by the accumulation of yellowish deposits (drusen) under the retina, often leading to progressive vision loss. It is distinct from age-related macular degeneration (AMD) due to its earlier onset and genetic basis.

Familial Exudative Vitreoretinopathy (FEVR) is a rare, inherited eye disorder characterized by abnormal development of retinal blood vessels. This leads to incomplete vascularization, particularly in the peripheral retina, and can cause progressive vision loss due to retinal detachment, hemorrhage, and other complications.

Fundus Albipunctatus is a rare, stationary inherited retinal disease characterized by night blindness from early childhood and the presence of numerous small, white-yellow dots scattered across the retina, sparing the fovea.

Goldmann-Favre Syndrome is a rare, inherited retinal dystrophy characterized by retinoschisis, night blindness, and progressive vision loss. It affects both rod and cone photoreceptors, leading to significant visual impairment.

Gyrate Atrophy is a rare, inherited metabolic disorder characterized by progressive chorioretinal degeneration leading to vision loss. It is caused by a deficiency of the enzyme ornithine aminotransferase (OAT).

Heimler syndrome is a very rare genetic condition that affects multiple parts of the body, most notably the ears, teeth, nails, and eyes. It is an inherited disorder, meaning it is passed down from parents to their children. People with Heimler syndrome typically develop hearing loss early in life, often during childhood. They also experience problems with the development of their adult teeth, a condition called amelogenesis imperfecta, which causes the tooth enamel to be thin, discolored, and p

Inherited tritanopia, often called blue-yellow color blindness, is a rare genetic condition that affects how you see colors. People with this condition have a specific difficulty distinguishing between certain colors, particularly shades of blue and green, purple and red, and yellow and pink. Sometimes, dark blue can look like black. This happens because the special cells in the back of the eye (the retina) that detect blue light, called blue cones, do not work properly or are missing. Unlike m

Joubert Syndrome is a rare genetic disorder affecting brain development, particularly the cerebellum and brainstem, leading to a characteristic 'molar tooth sign' on MRI. It often presents with developmental delays, abnormal eye movements, and breathing irregularities.

Kearns-Sayre Syndrome (KSS) is a rare, progressive neuromuscular disorder characterized by ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. It is caused by large-scale deletions in mitochondrial DNA, typically occurring sporadically.

Leber Congenital Amaurosis (LCA) is a group of severe inherited retinal diseases that cause profound vision loss at birth or in early infancy. It is characterized by nystagmus, sluggish or absent pupillary responses, and severely reduced or absent electroretinogram (ERG) responses.

Leber Hereditary Optic Neuropathy (LHON) is a rare genetic eye disease that causes a sudden and painless loss of central vision. It usually affects young adults, most commonly men in their teens or twenties. The condition typically starts with blurry or cloudy vision in one eye, and within a few weeks or months, the second eye also becomes affected. This loss of central vision makes it very difficult to read, drive, or recognize faces, although peripheral (side) vision usually remains intact.

Malattia Leventinese, also known as Doyne Honeycomb Retinal Dystrophy, is a rare, inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye. It is characterized by the buildup of small, yellowish deposits called "drusen" under the retina. These deposits often form a distinct radial or "honeycomb" pattern. While the drusen usually start forming in early adulthood, most people do not notice any vision problems until they reach their 30s, 40s, or 50s. As th

Maternally Inherited Diabetes and Deafness (MIDD) is a rare genetic condition that primarily causes diabetes and hearing loss. It is caused by changes (mutations) in the DNA of mitochondria, which are the energy-producing powerhouses inside our cells. Because mitochondrial DNA is inherited only from mothers, this condition is passed down from a mother to her children. The symptoms usually start when a person is a young adult, often between the ages of 20 and 40. People with MIDD are typically no

Norrie Disease is a rare, X-linked genetic disorder primarily affecting the eyes, leading to severe vision impairment or blindness from birth. It can also involve progressive hearing loss and developmental delays in some individuals.

North Carolina Macular Dystrophy (NCMD) is a rare, inherited eye disorder characterized by congenital macular abnormalities that can lead to progressive vision loss. It is typically present from birth and affects central vision.

Oguchi disease is a rare, autosomal recessive inherited retinal disorder characterized by congenital stationary night blindness and a distinctive golden-yellow or grayish-white discoloration of the fundus, which disappears after prolonged dark adaptation (Mizuo-Nakamura phenomenon).

Pattern dystrophy is a group of inherited retinal disorders characterized by distinct patterns of pigment deposition in the macula, often with relatively preserved visual acuity in early stages. It typically affects the retinal pigment epithelium (RPE).

Progressive cone dystrophy is a rare genetic eye disorder that gradually damages the cone cells in the retina, which is the light-sensitive tissue at the back of the eye. Cone cells are responsible for your central vision, allowing you to see fine details, read, recognize faces, and perceive colors. They also help you see clearly in bright light. Because this condition is progressive, the symptoms usually start in childhood or early adulthood and slowly get worse over time. Unlike some other eye

Refsum disease is a rare, inherited metabolic disorder characterized by the accumulation of phytanic acid in tissues and blood, leading to progressive vision loss, neurological problems, and other systemic issues. It is a peroxisomal disorder affecting multiple organ systems.

Retinitis Pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive degeneration of photoreceptor cells, primarily rods, leading to gradual vision loss. It typically manifests as night blindness followed by peripheral vision constriction.

Retinitis punctata albescens (RPA) is a rare, inherited eye disorder that affects the retina, the light-sensitive tissue at the back of the eye. It is a type of rod-cone dystrophy, meaning it primarily affects the photoreceptor cells responsible for vision in low light (rods) and color vision (cones). The condition gets its name from the characteristic appearance of numerous small, white or yellowish dots scattered across the retina, which can be seen during an eye exam. Patients with RPA typic

Rod-cone dystrophy (RCD) is a group of inherited retinal disorders characterized by primary degeneration of rod photoreceptors, followed by secondary cone degeneration. This leads to progressive vision loss, beginning with night blindness and peripheral vision deficits.

Senior-Loken Syndrome (SLSN) is a rare, inherited disorder characterized by the combination of nephronophthisis (a kidney disease) and Leber congenital amaurosis (LCA), a severe retinal dystrophy leading to early-onset vision impairment.

Severe Early Childhood Onset Retinal Dystrophy (SECORD) is a rare, inherited eye disorder that causes severe vision problems starting in infancy or early childhood. Children with SECORD are typically born with severe night blindness and significantly reduced overall vision. They may also have nystagmus, which is involuntary, rapid eye movements. While their vision is poor from a very young age, it is usually better than that of children with a similar but more severe condition called Leber conge

Sorsby Fundus Dystrophy (SFD) is a rare, inherited retinal disease characterized by progressive vision loss due to degeneration of the macula and choroid. It typically manifests in adulthood, leading to central vision impairment.

Stargardt Disease is the most common form of inherited macular degeneration, causing progressive vision loss due to the degeneration of photoreceptor cells in the macula. It typically begins in childhood or adolescence.

Stickler Syndrome is a genetic disorder affecting connective tissues, particularly collagen, leading to a range of issues including vision, hearing, and joint problems. Ocular manifestations often involve high myopia, vitreoretinal degeneration, and an increased risk of retinal detachment.

Usher Syndrome is a genetic disorder causing combined hearing loss and progressive vision loss due to retinitis pigmentosa (RP). It is the most common cause of combined deaf-blindness.

Wagner Syndrome is a rare, inherited vitreoretinal disorder characterized by progressive liquefaction and degeneration of the vitreous, leading to various ocular complications including myopia, cataracts, and retinal detachment. It can significantly impair vision over time.

Wolfram Syndrome is a rare, progressive neurodegenerative disorder primarily characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). It affects multiple organ systems and can lead to severe neurological complications.

X-Linked Retinoschisis (XLRS) is a genetic eye disorder primarily affecting males, characterized by the splitting of retinal layers, particularly in the macula, leading to impaired central and peripheral vision.

Zellweger spectrum disorder is a rare genetic condition that affects how the body's cells function. Inside our cells are tiny structures called peroxisomes, which act like recycling centers to break down certain fats and chemicals. In people with this disorder, these peroxisomes don't form properly or don't work as they should. This causes harmful substances to build up in the body, which can damage the brain, liver, kidneys, and other organs. The condition can range from very severe to mild. B