Rx Eye & Vision Care (A - Z)Channelopathy-Associated Congenital Insensitivity to Pain (CIP) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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. ...
Rx Eye & Vision Care (A - Z)Posterior Membrane Corneal Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Endothelial Corneal Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Dystrophy of the Corneal Endothelium Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Chandler Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Central Serous Retinopathy (CSR) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Central Serous Choroidopathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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. ...
Rx Eye & Vision Care (A - Z)Central Serous Chorioretinopathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Central Cloudy Dystrophy of François Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Central Cloudy Corneal Dystrophy of François (CCDF) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Choroidal Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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) ...
Rx Eye & Vision Care (A - Z)Central Areolar Choroidal Sclerosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Congenital Cataract Caused by Mutation in EPHA2 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 6 Multiple Types Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 40 with or without Microcornea Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 4 Multiple Types with or without Microcornea Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 4 Multiple Types Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 35 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)CTRCT Related Anterior Polar Cataracts Types 32 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 32 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 31 Multiple Types Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Recessive Congenital Cataract 2 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 18 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)PITX3 Early-Onset Non-Syndromic Cataract Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Cataract 11 Multiple Types Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Congenital Cataract-Microcornea Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Benign Inoculation Lymphoreticulosis; Benign Lymphoreticulosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. 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 ...
Rx Eye & Vision Care (A - Z)Butterfly-Shaped Pigmentary (Pattern) Macular Dystrophy Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Butterfly-Shaped Pattern Dystrophy Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Hereditary Bullous Dystrophy, Macular Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bullous Dystrophy, Macular Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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) ...
Rx Eye & Vision Care (A - Z)Brittle Cornea Syndrome Type 1 (BCS1) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Brittle Cornea Syndrome (BCS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Prolonged Electroretinal Response Suppression (PERRS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Difficulty Seeing Moving Objects Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bradyopsia Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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. ...
Rx Eye & Vision Care (A - Z)Vasterbotten Dystrophy Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bothnia Retinal Dystrophy (BRD) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bosch-Boonstra-Schaaf Optic Atrophy–Intellectual Disability Syndrome (BBSOAS / NR2F1-Related Disorder) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist 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 ...
Rx Eye & Vision Care (A - Z)Tritanomaly Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Tritan Defect Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Tritan Colour Blindness Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Tritan Color Blindness Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Dyschromatopsia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Congenital Tritanopia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blue/Yellow Color Vision Defect Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blue-Yellow Dyschromatopsia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blue Color Blindness Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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. ...
Rx Eye & Vision Care (A - Z)Blindness–Scoliosis–Arachnodactyly Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome (BPES) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blepharophimosis–Intellectual Disability Syndrome, Ohdo Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blepharophimosis–Intellectual Disability Syndrome, Maat-Kievit-Brunner Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Vitiliginous Choroiditis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Vitiliginous Chorioretinitis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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, ...
Rx Eye & Vision Care (A - Z)Birdshot Retinochoroidopathy Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Birdshot Retinochoroiditis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Birdshot Lesions Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Birdshot Choroidal Lesions Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Birdshot Chorioretinitis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Birdshot Chorioretinopathy (BCR) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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). ...
Rx Eye & Vision Care (A - Z)Bilateral Acute Depigmentation of the Iris (BADI) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bietti Crystalline Retinopathy Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bietti Crystalline Corneoretinal Dystrophy Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Ouvrier–Billson Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Neuroocular Syndrome 2 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Benign Concentric Annular Macular Dystrophy (BCAMD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Hemifacial Hyperplasia-Strabismus Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Oculo-Cerebral Dysplasia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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, ...
Rx Eye & Vision Care (A - Z)Behrens-Baumann-Vogel Syndrome (BBVS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Axenfeld-Rieger Syndrome (ARS) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Combined Granular-Lattice Corneal Dystrophy Type 2 Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Avellino Corneal Dystrophy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Progressive External Ophthalmoplegia (PEO) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Retinopathy Burgess-Black Type Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Bestrophinopathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Recessive Bestrophinopathy (ARB) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Vitreoretinochoroidopathy with Microcornea Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) with Nanophthalmos Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Dominant Vitreoretinochoroidopathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Rhegmatogenous Retinal Detachment Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Dominant Optic Atrophy and Peripheral Neuropathy Syndrome Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Dominant Optic Atrophy with Peripheral Neuropathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Vitreoretinopathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Retinitis Proliferans Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)CAPN5 Vitreoretinopathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Oculomotor Apraxia Associated with APTX (Aprataxin) Mutations Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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, ...
Rx Eye & Vision Care (A - Z)Chorioretinal Dystrophy Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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. ...
Rx Eye & Vision Care (A - Z)Ataxia with Oculomotor Apraxia Type 3 (AOA3) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)PNKP-Related Oculomotor Apraxia Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Ataxia Oculomotor Apraxia Type 4 (AOA4) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Poretti-Boltshauser Syndrome (PBS) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Blepharochalasis and Double Llip Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Ascher Syndrome Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Lethal Ataxia with Deafness and Optic Atrophy Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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), ...
Rx Eye & Vision Care (A - Z)Anterior Segment Dysgenesis Caused by CPAMD8 Mutation Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Iridogoniodysgenesis (IGDS) Caused by PITX2 Mutation Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Autosomal Dominant Iridogoniodysgenesis Caused by FOXC1 Mutation Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Anterior Segment Dysgenesis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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) ...
Rx Eye & Vision Care (A - Z)Ischemic Optic Neuropathy (ION) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Anterior Ischemic Optic Neuropathy (AION) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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). ...
Rx Eye & Vision Care (A - Z)Anterior Segment Dysgenesis (ASD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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. ...
Rx Eye & Vision Care (A - Z)Anterior Chamber Cleavage Disorder Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Syndromic Microphthalmia Type 3 (MCOPS3) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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, ...
Rx Eye & Vision Care (A - Z)Cassia Stocco Dos Santos Syndrome Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Mmicrophthalmia with Facial Clefting Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 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 ...
Rx Eye & Vision Care (A - Z)Amaurosis-Hypertrichosis Syndrome (AHS) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Amaurosis-Hypertrichosis Syndrome is a very rare, inherited condition that affects the eyes and body hair. Babies are born with serious retina problems (the retina is the “camera film” at the back of ...
Rx Eye & Vision Care (A - Z)Forsius–Eriksson Type Ocular Albinism Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Forsius–Eriksson type ocular albinism—today most often referred to as Åland Islands eye disease (AIED). It is an X-linked retinal channelopathy in which changes in the CACNA1F gene alter a calcium ...
Rx Eye & Vision Care (A - Z)Forsius–Eriksson Syndrome Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Forsius–Eriksson syndrome—also called Åland Islands eye disease (AIED)—is a very rare eye condition present from birth. It mainly affects boys because the gene change sits on the X chromosome. The ...
Rx Eye & Vision Care (A - Z)Åland Islands Eye Disease (AIED) Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Åland Islands Eye Disease (AIED), also called Forsius–Eriksson syndrome, is a rare, inherited eye condition that mostly affects boys and men because it is X-linked recessive. The problem starts in ...
Rx Eye & Vision Care (A - Z)Alacrima, Achalasia, and Intellectual Disability Syndrome Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist AAID (Alacrima, Achalasia, and Intellectual Disability Syndrome) is a rare, inherited condition. The three core problems are: Alacrima: very low or absent tear production. Eyes feel dry, ...
Rx Eye & Vision Care (A - Z)Alacrima Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Alacrima means the eyes do not make enough tears or, in some people, almost no tears at all. Tears are not only “water.” Healthy tears are a balanced mix of water, oil, and mucus with protective ...