Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Congenital or developmental anomaly in which the eyeballs are abnormally small.
Congenital absence of the eye or eyes.
A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.
A paired box transcription factor that is essential for ORGANOGENESIS of the CENTRAL NERVOUS SYSTEM and KIDNEY.
The back two-thirds of the eye that includes the anterior hyaloid membrane and all of the optical structures behind it: the VITREOUS HUMOR; RETINA; CHOROID; and OPTIC NERVE.
The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
A characteristic symptom complex.

Congenital duplication of the lens. (1/187)

A case of reduplication of the lens with uveal coloboma is described. This is a rare condition and, unlike the two previously reported cases, the other ocular structures and adnexae appeared normal.  (+info)

Clinical characteristics of CHARGE syndrome. (2/187)

CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.  (+info)

Looking behind a pathological blind spot in human retina. (3/187)

Recent work suggests that dichoptic lateral interactions occur in the region of the visual field of one eye that corresponds to the physiological blind spot in the other eye (Tripathy, S. P., & Levi, D. M. (1994). The two-dimensional shape of spatial interaction zones in the parafovea. Vision Research, 34, 1127-1138.) Here we ask whether dichoptic lateral interactions occur in the region of the visual field of one eye that corresponds to a pathological blind spot, a retinal coloboma in the other eye. To address this question we had the observer report the orientation of a letter 'T' presented within this region in the presence of flanking 'T's presented to the other eye around the coloboma. A large drop in performance was seen due to the flanks, showing the existence of dichoptic lateral interactions in this monocular region. The presence of these dichoptic interactions in a region lacking direct retinal afferents from one eye is consistent with the proposition that long-range horizontal connections of the primary visual cortex mediate these interactions.  (+info)

Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs. (4/187)

PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. METHODS: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. Fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. Color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.  (+info)

Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome? (5/187)

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.  (+info)

Pax2 in development and renal disease. (6/187)

Pax genes are associated with a variety of developmental mutations in mouse and man that are gene dosage sensitive, or haploinsufficient. The Pax2 gene encodes a DNA binding, transcription factor whose expression is essential for the development of the renal epithelium. Both gain and loss of function mutants in the mouse demonstrate a requirement for Pax2 in the conversion of metanephric mesenchymal precursor cells to the fully differentiated tubular epithelium of the nephron. However, Pax2 expression is down-regulated as cells leave the mitotic cycle. Humans carrying a single Pax2 mutant allele exhibit renal hypoplasia, vesicoureteric reflux, and optic nerve colobomas. Conversely, persistent expression of Pax2 has been demonstrated in a variety of cystic and dysplastic renal diseases and correlates with continued proliferation of renal epithelial cells. Thus, Pax2 misexpresssion may be a key determinant in the initiation and progression of renal diseases marked by increased or deregulated cell proliferation.  (+info)

Bitemporal pseudohemianopia related to the "tilted disk" syndrome: CT, MR, and fundoscopic findings. (7/187)

We describe a case of the "tilted-disk" syndrome in a patient with a bitemporal field depression (a pseudohemianopia). CT and MR imaging showed thinning and prolapse of the nasal sectors of the posterior walls of the globes and flattening of the temporal portion of the globes.  (+info)

The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain. (8/187)

The homeodomain protein Vax1 is expressed in a highly circumscribed set of cells at the ventral anterior midline of the embryonic CNS. These cells populate the choroid fissure of the optic disk, the body of the optic stalk and nerve, the optic chiasm and ventral diencephalon, and the anterior midline zones that abut developing commissural tracts. We have generated mutant mice that lack Vax1. In these mice (1) the optic disks fail to close, leading to coloboma and loss of the eye-nerve boundary; (2) optic nerve glia fail to associate with and appear to repulse ingrowing retinal axons, resulting in a fascicle of axons that are completely segregated from optic nerve astrocytes; (3) retinal axons fail to penetrate the brain in significant numbers and fail to form an optic chiasm; and (4) axons in multiple commissural tracts of the anterior CNS, including the corpus callosum and the hippocampal and anterior commissures, fail to cross the midline. These axon guidance defects do not result from the death of normally Vax1(+) midline cells but, instead, correlate with markedly diminished expression of attractive guidance cues in these cells. Vax1 therefore regulates the guidance properties of a set of anterior midline cells that orchestrate axon trajectories in the developing mammalian forebrain.  (+info)

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

Microphthalmos is a medical condition where one or both eyes are abnormally small due to developmental anomalies in the eye. The size of the eye may vary from slightly smaller than normal to barely visible. This condition can occur in isolation or as part of a syndrome with other congenital abnormalities. It can also be associated with other ocular conditions such as cataracts, retinal disorders, and orbital defects. Depending on the severity, microphthalmos may lead to visual impairment or blindness.

Anophthalmos is a medical condition where an individual is born without one or both eyes. It is a congenital disorder, which means it is present at birth. In cases where only one eye is affected, it is called unilateral anophthalmos, and when both eyes are missing, it is referred to as bilateral anophthalmos.

Anophthalmos is different from microphthalmia, another congenital condition where the eye is present but abnormally small. In some cases, anophthalmos may be accompanied by other developmental anomalies or syndromes. The exact cause of anophthalmos is not always known, but it can be associated with genetic mutations or environmental factors that affect fetal development.

Individuals with anophthalmos require specialized medical care and management to ensure proper eye socket development, visual rehabilitation, and overall well-being. This may include the use of prosthetic eyes, orthoptic therapy, and other supportive measures.

Choanal atresia is a medical condition where the back of the nasal passage (choana) is blocked or narrowed, usually by bone, membrane, or a combination of both. This blockage can be present at birth (congenital) or acquired later in life due to various reasons such as infection, injury, or tumor.

Congenital choanal atresia is more common and occurs during fetal development when the nasal passages fail to open properly. It can affect one or both sides of the nasal passage and can be unilateral (affecting one side) or bilateral (affecting both sides). Bilateral choanal atresia can cause breathing difficulties in newborns, as they are obligate nose breathers and cannot breathe through their mouth yet.

Treatment for choanal atresia typically involves surgical intervention to open up the nasal passage and restore normal breathing. The specific type of surgery may depend on the location and extent of the blockage. In some cases, follow-up surgeries or additional treatments may be necessary to ensure proper functioning of the nasal passage.

Hypertelorism is a medical term that refers to an ocular condition where the distance between two eyes (interpupillary distance) is abnormally increased. It's typically defined as an interpupillary distance that measures more than 2 standard deviations beyond the mean for a given age, gender, and race.

This condition can be associated with various genetic syndromes or conditions such as craniosynostosis (premature fusion of skull sutures), fetal alcohol syndrome, and certain chromosomal abnormalities like Down syndrome. Hypertelorism may also occur in isolation without any other associated anomalies.

It's important to note that hypertelorism can have cosmetic implications, particularly if the distance between the eyes is significantly increased, as it may affect the overall symmetry and appearance of the face. However, in most cases, this condition does not directly impact vision unless there are other related structural abnormalities of the eye or orbit.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

A pupil disorder refers to any abnormality or condition affecting the size, shape, or reactivity of the pupils, the circular black openings in the center of the eyes through which light enters. The pupil's primary function is to regulate the amount of light that reaches the retina, adjusting its size accordingly.

There are several types of pupil disorders, including:

1. Anisocoria: A condition characterized by unequal pupil sizes in either one or both eyes. This may be caused by various factors, such as nerve damage, trauma, inflammation, or medication side effects.

2. Horner's syndrome: A neurological disorder affecting the autonomic nervous system, resulting in a smaller pupil (miosis), partial eyelid droop (ptosis), and decreased sweating (anhidrosis) on the same side of the face. It is caused by damage to the sympathetic nerve pathway.

3. Adie's tonic pupil: A condition characterized by a dilated, poorly reactive pupil due to damage to the ciliary ganglion or short ciliary nerves. This disorder usually affects one eye and may be associated with decreased deep tendon reflexes in the affected limbs.

4. Argyll Robertson pupil: A condition where the pupils are small, irregularly shaped, and do not react to light but constrict when focusing on nearby objects (accommodation). This disorder is often associated with neurosyphilis or other brainstem disorders.

5. Pupillary dilation: Abnormally dilated pupils can be a sign of various conditions, such as drug use (e.g., atropine, cocaine), brainstem injury, Adie's tonic pupil, or oculomotor nerve palsy.

6. Pupillary constriction: Abnormally constricted pupils can be a sign of various conditions, such as Horner's syndrome, Argyll Robertson pupil, drug use (e.g., opioids, pilocarpine), or oculomotor nerve palsy.

7. Light-near dissociation: A condition where the pupils do not react to light but constrict when focusing on nearby objects. This can be seen in Argyll Robertson pupil and Adie's tonic pupil.

Prompt evaluation by an ophthalmologist or neurologist is necessary for accurate diagnosis and management of these conditions.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

In medical terms, the iris refers to the colored portion of the eye that surrounds the pupil. It is a circular structure composed of thin, contractile muscle fibers (radial and circumferential) arranged in a regular pattern. These muscles are controlled by the autonomic nervous system and can adjust the size of the pupil in response to changes in light intensity or emotional arousal. By constricting or dilating the iris, the amount of light entering the eye can be regulated, which helps maintain optimal visual acuity under various lighting conditions.

The color of the iris is determined by the concentration and distribution of melanin pigments within the iris stroma. The iris also contains blood vessels, nerves, and connective tissue that support its structure and function. Anatomically, the iris is continuous with the ciliary body and the choroid, forming part of the uveal tract in the eye.

The PAX2 transcription factor is a protein that plays a crucial role in the development and function of the kidneys and urinary system. It belongs to the PAX family of transcription factors, which are characterized by a highly conserved DNA-binding domain called the paired box. The PAX2 protein helps regulate gene expression during embryonic development, including genes involved in the formation of the nephrons, the functional units of the kidneys.

PAX2 is expressed in the intermediate mesoderm, which gives rise to the kidneys and other organs of the urinary system. It helps to specify the fate of these cells and promote their differentiation into mature kidney structures. In addition to its role in kidney development, PAX2 has also been implicated in the development of the eye, ear, and central nervous system.

Mutations in the PAX2 gene have been associated with various genetic disorders, including renal coloboma syndrome, which is characterized by kidney abnormalities and eye defects. Proper regulation of PAX2 expression is essential for normal development and function of the urinary system and other organs.

The posterior segment of the eye refers to the back portion of the interior of the eye, including the vitreous, retina, choroid, and optic nerve. This region is responsible for processing visual information and transmitting it to the brain. The retina contains photoreceptor cells that convert light into electrical signals, which are then sent through the optic nerve to the brain for interpretation as images. Disorders of the posterior eye segment can lead to vision loss or blindness.

The choroid is a layer of the eye that contains blood vessels that supply oxygen and nutrients to the outer layers of the retina. It lies between the sclera (the white, protective coat of the eye) and the retina (the light-sensitive tissue at the back of the eye). The choroid is essential for maintaining the health and function of the retina, particularly the photoreceptor cells that detect light and transmit visual signals to the brain. Damage to the choroid can lead to vision loss or impairment.

"Fundus Oculi" is a medical term that refers to the back part of the interior of the eye, including the optic disc, macula, fovea, retinal vasculature, and peripheral retina. It is the area where light is focused and then transmitted to the brain via the optic nerve, forming visual images. Examinations of the fundus oculi are crucial for detecting various eye conditions such as diabetic retinopathy, macular degeneration, glaucoma, and other retinal diseases. The examination is typically performed using an ophthalmoscope or a specialized camera called a retinal camera.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level ... October 1998). "The prevalence of PAX2 mutations in patients with isolated coloboma or colobomata associated with urogenital ... depending on the position and extent of the coloboma (or colobomata if more than one is present). Visual effects may be mild to ... also known as Fuchs coloboma. Coloboma can be associated with a mutation in the PAX2 gene. Eye abnormalities have been shown to ...
... is a rare defect of the optic nerve that causes moderate to severe visual field defects. Coloboma of ... An optic nerve coloboma is easily differentiated from morning glory anomaly. Colobomas affect only the inferior aspect of the ... The presence of this phenomenon is dependent on the degree of the coloboma, with larger colobomas more likely to manifest this ... Certain activities, however, may be more difficult for patients with optic nerve colobomas due to a compromised view of the ...
"Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome". www.orpha.net (in Spanish). Retrieved 2022-07-01. "Coloboma ... Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is ... "Entry - 120400 - Coloboma of macula with type B brachydactyly". omim.org. Retrieved 2022-07-01. v t e (CS1 Spanish-language ... "Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-07 ...
CRLF1 Coloboma of optic nerve; 120430; PAX6 Coloboma, ocular; 120200; PAX6 Coloboma, ocular; 120200; SHH Colon cancer, somatic ... with coloboma 3; 610092; CHX10 Microphthalmia, isolated, with coloboma 5; 611638; SHH Microphthalmia, syndromic 2; 300166; BCOR ... TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of the central nervous ... ocular coloboma and micrognathia; 300472; IGBP1 Corpus callosum, partial agenesis of; 304100; L1CAM Cortical dysplasia-focal ...
Sometimes there are slits in the eye (coloboma), retinal detachment and abnormally small or differently sized eyes. When X- ... optic nerve coloboma; and The development in infancy of seizures that are called infantile spasms. Other types of defects of ... coloboma). Rapid, involuntary eye movements (nystagmus) are common. Since girls with Aicardi syndrome have an intellectual ...
The nerve head typically resembles the morning glory disc anomaly, but has also been described as a coloboma. A coloboma is the ... "Renal Coloboma Syndrome". PMID 20301624. {{cite journal}}: Cite journal requires ,journal= (help) "Renal coloboma syndrome: ... Retinal coloboma is also common, which is characterized by the absence of retinal tissue in the nasal ventral portion of the ... Mutations in Pax2 have been identified in half of renal coloboma syndrome victims. Management of the disease should be focused ...
Coloboma of the eye is visible in the retina as "hole" in its structure, and causes low vision, possible sensitivity to light ... "Facts About Coloboma , National Eye Institute". nei.nih.gov. Archived from the original on 2019-08-22. Retrieved 2019-05-15. ... Li J, Li Y, Hu Z, Kong L (June 2014). "Intraocular lens implantation for patients with coloboma of the iris". Experimental and ... Ophthalmological surgery may be used to treat coloboma and ptosis of the eye to improve vision and appearance. A common ...
The most common orbital /eye anomalies seen in children with facial clefts are colobomas and vertical dystopia. The coloboma ... In this plan, a difference is made between problems that need to be solved to improve the health of the patient (coloboma) and ... Patipa M et al., "Surgical management of congenital eyelid coloboma", Ophthalmic Surg. 1982 Mar;13(3):212-216 Patipa, M; ... Wilkins, RB; Guelzow, KW (1982). "Surgical management of congenital eyelid coloboma". Ophthalmic Surgery. 13 (3): 212-6. PMID ...
Eye defects such as coloboma or ptosis. Increased incidence of color-blindness The exact genetic nature of each particular case ...
She is legally blind, due to Coloboma. Lachi attended the University of North Carolina at Chapel Hill where she created the all ...
The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some ... 1965). "Chromosomes in Coloboma and Anal Atresia". Lancet. 2 (7406): 290. doi:10.1016/S0140-6736(65)92415-3. PMID 14330081. ... Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes) Preauricular pits/tags (small ...
Eye problems may include coloboma, microcornea, and glaucoma. Some affected infants may have complete absence of the eyes ( ...
Information and support for Anophthalmia, Microphthalmia and Coloboma". Anophthalmia.org. Archived from the original on 2012-07 ... and coloboma National Eye Institute (NEI) - Resources GeneReviews/NCBI/NIH/UW entry on anophthalmia / microphthalmia NCBI/ ... Coloboma Support (MACS) - Charity offering support and information for people affected by microphthalmia, anophthalmia, ...
Other signs include hydrocephalus and an iris coloboma. It was first described by Yim and Ebbin in 1982, and later by Thomas ... "Amelia cleft lip palate hydrocephalus iris coloboma (Concept Id: C1832434) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved ...
2011). "First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the ... "Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes". Exp Eye Res. 193: 107940. doi:10.1016/j.exer.2020.107940. ...
These abnormalities may include coloboma, optic nerve hypoplasia, retinal dystrophy, and cataract. Ultrasound may also be used ... 2011). "First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the ... and coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19 COX7B CRIM1 CRYAA CRYBA4 CRYBB2 DHX38 ... Anophthalmia and Coloboma among Live Births in Denmark". Ophthalmic Epidemiol. 23 (5): 324-30. doi:10.1080/09286586.2016. ...
In GeneReviews Bardakjian T, Weiss A, Schneider AS (2006-05-26). "Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED ...
Failure of this fissure to close results in coloboma iridis. Larsen, William J. (2001). Human embryology (3. ed.). Philadelphia ...
GeneReviews/NCBI/NIH/UW entry on Renal Coloboma Syndrome PAX2+protein,+human at the U.S. National Library of Medicine Medical ... Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR (Nov 1995). "Mutation of PAX2 in two siblings with renal-coloboma ... Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this ... "Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux". Nature Genetics. ...
April 1997). "Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical ... November 2000). "PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism". European Journal of ... "Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma ...
Galen, another Roman doctor likely described either coloboma or facial cleft. To treat this condition he recommended scarifying ...
Ocular coloboma - an existent hole within the eye of the individual. The hole can be present in either the iris, choroid, optic ... When these conditions are combined with eye coloboma, the condition is also known as oculo-otodental syndrome. The first known ... Sensorineural hearing loss can be another measure for proper diagnosis as well as checking for ocular coloboma. The latter is ... Although in individuals with signs of ocular coloboma, a microdeletion in the Fas-associated death domain (FADD) gene (11q13.3 ...
Sometimes, babies born with choanal atresia also have other abnormalities: coloboma. heart defects and cardiovascular disease. ...
The major ocular abnormalities are colobomas and choristomas. Skeletal abnormalities may include dental irregularities, ...
In the coloboma hyperactive mutant mouse model where SNAP-25 protein levels are reduced to 50% of the normal level, depolarized ... Raber J, Mehta PP, Kreifeldt M, Parsons LH, Weiss F, Bloom FE, Wilson MC (January 1997). "Coloboma hyperactive mutant mice ... "Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant". Brain Research. 847 (2 ...
The acronym comes from the features associated with CHARGE syndrome which are as follows: C- coloboma of the eye, H- heart ... Pagon, Roberta A.; Graham, John M.; Zonana, Jonathan; Yong, Siu-Li (August 1981). "Coloboma, congenital heart disease, and ...
C - Coloboma of the eye, central nervous system anomalies H - Heart defects A - Atresia of the choanae R - Restricted growth ... Using both coloboma or choanal atresia and some of the other related characteristic malformations, R. A. Pagon first coined the ... During the same year, H.M. Hittner described 10 children who had choanal atresia as well as coloboma, congenital heart defect, ... First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of ...
This developmental condition results in small-sized eyes and is associated with coloboma. PCR analysis identified the ...
Ritter had a birth defect known as a coloboma in his right eye. His father, Tex Ritter, was a singing cowboy and matinee star, ...
The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia. Atypical Gillespie ...
A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level ... October 1998). "The prevalence of PAX2 mutations in patients with isolated coloboma or colobomata associated with urogenital ... depending on the position and extent of the coloboma (or colobomata if more than one is present). Visual effects may be mild to ... also known as Fuchs coloboma. Coloboma can be associated with a mutation in the PAX2 gene. Eye abnormalities have been shown to ...
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye ... Renal coloboma syndrome is caused by variants (also known as mutations) in the PAX2 gene. The PAX2 gene provides instructions ... Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye ... Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr ...
These images are a random sampling from a Bing search on the term "Coloboma." Click on the image (or right click) to open the ...
Although an eyelid coloboma can occur in many locations, the most common position is at the junction of the medial and middle ... An eyelid coloboma is a full-thickness defect of the eyelid. ... encoded search term (Eyelid Coloboma) and Eyelid Coloboma What ... 2] Isolated coloboma can be graded based on the sevirity of the CPA, as follows [2] :. * Grade 1 - Coloboma without ... Coloboma is a Greek word that refers to a "multiliation" or "defect." The word coloboma in ophthalmology refers to an ...
"Coloboma," "osteopetrosis," "microphthalmia," "macrocephaly," "albinism," deafness did not return any results. ...
The condition, called eyelid coloboma (or eyelid agenesis) is the most common congenital eyelid abnormality in cats. The extent ... Nalas eyelid coloboma treated with sub-dermal lip filler. Davies Veterinary Specialists ... Insights / Case Studies / Nalas eyelid coloboma treated with sub-dermal lip filler ...
The iris coloboma, which is relatively uncommon, does not affect vision, nor does it progress to anything else. ... lens colobomas, retinal colobomas, etc.) can cause vision problems. Some of these problems can be treated. The coloboma alone ... Coloboma means a thinning or a hole in the eye structure. In this context, it is an indication of how thin the iris is. The ... The coloboma can be mild or severe. In severe cases, there is a sort of notch in the margins of the pupil. ...
Find symptoms and other information about Coloboma of macula-brachydactyly type B syndrome. ... Coloboma of macula - brachydactyly type B is inherited in a dominant manner.Coloboma of macula - brachydactyly type B or Sorsby ... Chorioretinal Coloboma. Synonym: Birth Defect That Causes A Hole in The Innermost Layer at The Back of The Eye ... Chorioretinal coloboma Short distal phalanx of finger Type B brachydactyly Absent fingernail Broad thumb Camptodactyly of ...
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Chambers DEFINITION Eyelid coloboma (plural: colobomata) is a congenital anomaly arising from developmental interruption of the ... Eyelid coloboma (plural: colobomata) is a congenital anomaly arising from developmental interruption of the eyelid folds ... A small coloboma associated with the appropriate amount of superior rotation of the eye upon eye closure, known as a Bell ... Colobomata may occur in conjunction with Goldenhar syndrome (oculoauriculovertebral dysplasia),1,8 Treacher Collins syndrome ( ...
Although an eyelid coloboma can occur in many locations, the most common position is at the junction of the medial and middle ... An eyelid coloboma is a full-thickness defect of the eyelid. ... encoded search term (Eyelid Coloboma) and Eyelid Coloboma What ... An eyelid coloboma is a full-thickness defect of the eyelid. Although an eyelid coloboma can occur in many locations, the most ... An eyelid coloboma may occur either congenitally or as a result of trauma (eg, accidental, surgical). An eyelid coloboma is an ...
Chorioretinal coloboma. Condition/keywords. coloboma of choroid, chorioretinal coloboma Imaging device. Fundus camera ...
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.. Giacomo M Bacci, Silvio Polizzi, Francesco Mari, ... uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic ... variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal ...
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Uveal coloboma-cleft lip and palate-intellectual disability. MedGen UID: 811762. •Concept ID: C3805432. •. Disease or Syndrome ... Brachydactyly, coloboma, and anterior segment dysgenesis. MedGen UID: 355321. •Concept ID: C1864901. •. Disease or Syndrome. ... Microphthalmia, isolated, with coloboma 3. MedGen UID: 400598. •Concept ID: C1864721. •. Disease or Syndrome. ... Microphthalmia, isolated, with coloboma 5. MedGen UID: 369356. •Concept ID: C1968843. •. Disease or Syndrome. ...
Keyhole appearance to the pupil (iris colobomas). *. Drying out of the cornea (exposure keratopathy) ...
... coloboma; cataract; intraocular calcifications; chorioretinal anomalies involving the macula, excluding retinopathy of ...
71 68 40 Coloboma, iris, traumatic 71 68 98 Coloboma, iris, surgical 71 68 98 Iridectomy (sector) (peripheral) 71 70 00 Iris ... Code also precipitating disease/ 71 63 00 Atrophy, iris, essential 71 66 00 Iridodonesis 71 68 00 Coloboma NOS ... Coloboma 1 - OD 17 2 - OS 18 3 - OU 29 Blank 10063 401 Iritis 1 - OD 0 2 - OS 3 3 - OU 0 Blank 10124 402 Neovascularization 1 ... 77 19 00 Coloboma, disc (congenital) (optic) 77 19 00 Cup, Cupping, disc or nerve head, congenital 77 19 00 Elliptical disc, ...
Optic nerve coloboma: This inherited condition causes one or both optic nerves to not develop as they should. ...
Eyelid coloboma of the left upper eyelid in a patient with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). ... A, (Left) upper eyelid coloboma, lateral dermolipoma (of the left eye), and inferotemporal limbal dermoid (of the right eye) ... A, (Left) upper eyelid coloboma, lateral dermolipoma (of the left eye), and inferotemporal limbal dermoid (of the right eye) ... A 1-month year-old girl presented with right upper eyelid coloboma, corneal opacity, and sympblepheron formation with missing ...
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED Chang Davidson Carlson Syndrome Choroideremia + Chromosome Xp11.3 Deletion ...
The most distinctive birth defects are coloboma, choanal atresia and characteristic ears (external ears and small/absent ... The most distinctive birth defects are coloboma, choanal atresia and characteristic ears (external ears and small/absent ...
Iris coloboma (uncommon). 27. Retinal coloboma (uncommon). 28. Small eyes. 29. Mild orbital hypertelorism ...
Categories: Coloboma Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, CopyrightRestricted 3 images ...
Eye: structural abnormalities (e.g., microphthalmia, coloboma, cataracts or intraocular calcifications; posterior pole ...
Biology Seminar - "20 Years of Coloboma Research": 11/14, 12-1pm, Via Zoom / Stafford 101. ...
chick, Mab21l2, development, eye, anophthalmia, coloboma, retinogenesis National Category Neurosciences Identifiers. urn:nbn:se ... and coloboma, but the molecular function of Mab21l2 during eye development still remains largely unknown. METHODS. We have ...
... coloboma; absent ectoderm-, mesoderm-, and neuroderm-derived elements; and lobster claw deformity. [2, 3, 4, 5, 6] ... and colobomata of the iris, retina, and optic nerve bilaterally. This is likely a severe phenotype of focal dermal hypoplasia. ...
  • The iris coloboma, which is relatively uncommon, does not affect vision, and it does not progress to anything else. (vin.com)
  • In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis. (qxmd.com)
  • Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. (beds.ac.uk)
  • The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). (wikipedia.org)
  • Managing patients with eyelid coloboma requires an assessment of the extent of the coloboma itself and its effect on the eyelid function (ie, ocular surface lubrication and protection), in addition to excluding systemic and other associations described in syndromic eyelid coloboma. (medscape.com)
  • Although the coloboma itself is not a real problem, other problems associated with it (cataracts, lens colobomas, retinal colobomas, etc.) can cause vision problems. (vin.com)
  • Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. (qxmd.com)
  • Syndromic eyelid colobomas often are indicators of a broader genetic landscape, revealing themselves in tandem with other anomalies. (medscape.com)
  • Treacher Collins syndrome, or mandibulofacial dysostosis, highlights features such as an antimongoloid slant and lateral lower eyelid colobomas. (medscape.com)
  • Untreated eyelid colobomas may lead to significant morbidity. (medscape.com)
  • By definition, congenital eyelid colobomas are present at birth. (medscape.com)
  • However, an isolated eyelid coloboma can be either simple coloboma, where no other ocular abnormality is observed other than the eyelid defect, or accompanied by Corneopalpebral Adhesions (CPA). (medscape.com)
  • The condition, called eyelid coloboma (or eyelid agenesis) is the most common congenital eyelid abnormality in cats. (vetspecialists.co.uk)
  • Yeung A, Amor D, Savarirayan R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. (medscape.com)
  • [ 10 ] Lastly, the Manitoba Oculotrichoanal (MOTA) syndrome is distinguished by features such as unilateral upper eyelid coloboma and a bifid nose. (medscape.com)
  • 9 Goldenhar syndrome is associated with unilateral upper lid coloboma, whereas Treacher Collins is associated with lower eyelid coloboma or pseudocoloboma. (plasticsurgerykey.com)
  • Characteristic findings in patients who are affected include unilateral upper eyelid coloboma or cryptophthalmos with ipsilateral aberrant anterior hairline pattern and anal anomalies. (medscape.com)
  • New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. (medscape.com)
  • Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. (wikipedia.org)
  • Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. (qxmd.com)
  • Inferior chorioretinal coloboma - color image 2. (asrs.org)
  • A coloboma can occur in one eye (unilateral) or both eyes (bilateral). (wikipedia.org)
  • Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). (nih.gov)
  • Ankola PA, Abdel-Azim H. Congenital bilateral upper eyelid coloboma. (medscape.com)
  • The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. (wikipedia.org)
  • Coloboma of the iris raises the possibility of CHARGE association ( c oloboma, h eart defects, a tresia of the choanae, r etardation of mental and/or physical development, g enital hypoplasia, and e ar abnormalities), cat eye syndrome, Kabuki syndrome, or Aicardi syndrome. (msdmanuals.com)
  • Other ocular malformations that include coloboma or are related to it: CHARGE syndrome, a term that came into use as an acronym for the set of unusual congenital features seen in a number of newborn children. (wikipedia.org)
  • Coloboma is part of a set of characteristic facies that features craniofacial malformations, such as downslanting eyes, ear anomalies, or hypoplasia of zygomatic bone and jaw (micrognathia). (wikipedia.org)
  • Optic nerve malformations are sometimes associated with a gap or hole ( coloboma ) in the light-sensitive tissue at the back of the eye ( the retina ). (medlineplus.gov)
  • Untreated, an eyelid coloboma may lead to neonatal exposure keratopathy with corneal ulceration and perforation. (plasticsurgerykey.com)
  • A small eyelid coloboma with mild corneal exposure may be treated with lubrication, bandage contact lenses, or moisture chambers with surgery deferred until 6 months of age or later when pediatric eyelid tension has relaxed. (plasticsurgerykey.com)
  • A 1-month year-old girl presented with right upper eyelid coloboma, corneal opacity, and sympblepheron formation with missing midline eyebrow hair. (aao.org)
  • Eyelid coloboma (plural: colobomata) is a congenital anomaly arising from developmental interruption of the eyelid folds causing an eyelid cleft in either the upper or lower eyelid. (plasticsurgerykey.com)
  • The most distinctive birth defects are coloboma, choanal atresia and characteristic ears (external ears and small/absent semicircular canals). (chargesyndrome.org)
  • Renal coloboma syndrome is caused by variants (also known as mutations) in the PAX2 gene. (medlineplus.gov)
  • The word coloboma in ophthalmology refers to an embryological defect in different ocular tissues and can apply to the eyelid, the iris, the retina, or optic nerve. (medscape.com)
  • Tilted disc syndrome, an unusual congenital malformation associated with myopic astigmatism characterized by tilting of the intraocular tip of the optic nerve (the optic disc), also known as Fuchs coloboma. (wikipedia.org)
  • Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. (medlineplus.gov)
  • It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. (medlineplus.gov)
  • Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss. (medlineplus.gov)
  • Approximately half of those affected with renal coloboma syndrome do not have an identified variant in the PAX2 gene. (medlineplus.gov)
  • Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. (medlineplus.gov)
  • [ 4 ] Goldenhar syndrome, on the other hand, might manifest an eyelid coloboma and is linked with a myriad of other conditions like cleft lip, congenital heart defects, and scoliosis. (medscape.com)
  • [ 6 ] CHARGE syndrome presents a suite of symptoms including coloboma, heart defects, and growth retardation. (medscape.com)
  • [ 9 ] Nasopalpebral Lipoma Coloboma syndrome brings with it peculiarities like an upper eyelid lipoma and underdeveloped maxilla. (medscape.com)
  • When Do Symptoms of Coloboma of macula-brachydactyly type B syndrome Begin? (nih.gov)
  • Colobomata may occur in conjunction with Goldenhar syndrome (oculoauriculovertebral dysplasia), 1 , 8 Treacher Collins syndrome (mandibulofacial dysostosis), 3 frontonasal dysplasia, and Delleman syndrome. (plasticsurgerykey.com)
  • An eyelid coloboma is an almost constant feature of Treacher Collins syndrome, which is autosomal dominant with variable penetrance and expressivity. (medscape.com)
  • Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustarde classification). (medscape.com)
  • Coloboma of the eyelid is frequently associated with epibulbar dermoid cysts and is common in Treacher Collins syndrome, Nager syndrome, and Goldenhar syndrome. (msdmanuals.com)
  • [ 1 ] The eyelid coloboma can be broadly classified as isolated or syndromic based on the absence or presence of associated anomalies, respectively. (medscape.com)
  • Isolated colobomas encompass defects that appear independently of other systemic anomalies. (medscape.com)
  • A coloboma (from the Greek κολόβωμα, meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. (wikipedia.org)
  • Eyelid coloboma is a congenital defect in the eyelid that most commonly occur at the junction of the medial and middle third of the upper lid. (medscape.com)
  • Coloboma is a Greek word that refers to a "multiliation" or "defect. (medscape.com)
  • An eyelid coloboma is a congenital, full-thickness, eyelid defect, resulting from an interruption in the normal embryologic development of the eyelid. (medscape.com)
  • The defect may be isolated and incidental but is more commonly associated with craniofacial syndromes, ocular or periocular colobomata, or other facial clefts. (plasticsurgerykey.com)
  • The classic description of an eyelid coloboma is a full-thickness defect of a segment or an entire eyelid including absence of the conjunctiva, tarsus, orbicularis muscle, and skin. (plasticsurgerykey.com)
  • Variability in the formation of the eyelid folds early in embryogenesis vs later disruption of eyelid fusion/fissure may implicate the location of a coloboma defect and any associated facial clefts. (plasticsurgerykey.com)
  • An eyelid coloboma is a full-thickness defect of the eyelid. (medscape.com)
  • birth defects: coloboma of choroid or optic nerve disc, etc. (who.int)
  • Visual effects may be mild to more severe depending on the size and location of the coloboma. (wikipedia.org)
  • The coloboma can be mild or severe. (vin.com)
  • In this case review, Nouby concluded that upper eyelid coloboma with facial deformities and cryptophthalmos could be considered as one anomaly. (medscape.com)
  • An eyelid coloboma is a rare anomaly. (medscape.com)
  • The eylid coloboma most commonly affects the upper lids, specifically at the junction of the medial and middle third of the upper lid. (medscape.com)
  • Although an eyelid coloboma can occur in many locations, the most common position is at the junction of the medial and middle third of the upper lid. (medscape.com)
  • Collin JR. Congenital upper lid coloboma. (medscape.com)
  • Typically a coloboma appears oval- or comet-shaped with round end towards the centre. (wikipedia.org)
  • The isolated coloboma typically occurs sporadically, but some familial instances have been identified. (medscape.com)
  • Iris colobomas are easiest to see in light colored irises but may occur in any color of iris. (vin.com)
  • An eyelid coloboma may occur either congenitally or as a result of trauma (eg, accidental, surgical). (medscape.com)
  • Commonly posterior colobomata affect the inferior retina, with resultant deficit in the superior visual field. (wikipedia.org)
  • A case review of upper eyelid coloboma with or without cryptophthalmos included 26 children (age range, 1 d after birth to 15 y). (medscape.com)
  • [ 3 ] Of these 26 children, 19 had upper eyelid coloboma, 4 had classic cryptophthalmos, and 3 had both eyelid coloboma and cryptophthalmos. (medscape.com)
  • Nouby G. Congenital upper eyelid coloboma and cryptophthalmos. (medscape.com)
  • The genetic inheritance of isolated eyelid coloboma remains debated, but an autosomal recessive pattern has been implicated in some cases. (medscape.com)
  • Most congenital (born with) iris colobomas are genetic. (vin.com)
  • Coloboma can be associated with a mutation in the PAX2 gene. (wikipedia.org)
  • Left upper eyelid coloboma with loss of lashes, eyelid notch, and irregular upper eyelid contour. (plasticsurgerykey.com)
  • The coloboma alone will not cause health problems, but it's best to keep an affected animal with a severe case out of bright sunlight. (vin.com)
  • When eye exams are done, the irises will be examined both before and after the eyes are dilated, as some small colobomas might not be seen after dilation. (vin.com)
  • A small coloboma associated with the appropriate amount of superior rotation of the eye upon eye closure, known as a Bell reflex, may be asymptomatic requiring only cosmetic surgery later in life. (plasticsurgerykey.com)
  • Certain teratogenic exposures during early pregnancy (eg, radiation and specific chemical exposure) have been linked to eyelid coloboma with CPA. (medscape.com)
  • Notable people with coloboma include actor John Ritter, model/actress Karolina Wydra, The New York Times columnist Andrew Ross Sorkin, tennis player Arnaud Clément, pop singer songwriter Lachi, and George Soros. (wikipedia.org)