Congenital or developmental anomaly in which the eyeballs are abnormally small.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A ready-made or custom-made prosthesis of glass or plastic shaped and colored to resemble the anterior portion of a normal eye and used for cosmetic reasons. It is attached to the anterior portion of an orbital implant (ORBITAL IMPLANTS) which is placed in the socket of an enucleated or eviscerated eye. (From Dorland, 28th ed)
Congenital absence of the eye or eyes.
Diseases of the bony orbit and contents except the eyeball.
A procedure whereby the body is stimulated to generate extra soft tissue by the application of stretching forces that stimulate new growth of tissue which, over a period of time, results in a 2-dimensional expansion of the tissue. The procedure is used in reconstructive surgery for injuries caused by trauma, burns, or ablative surgery. Various types of TISSUE EXPANSION DEVICES have been developed that exert stretching forces.
Devices used to generate extra soft tissue in vivo to be used in surgical reconstructions. They exert stretching forces on the tissue and thus stimulate new growth and result in TISSUE EXPANSION. They are commonly inflatable reservoirs, usually made of silicone, which are implanted under the tissue and gradually inflated. Other tissue expanders exert stretching forces by attaching to outside of the body, for example, vacuum tissue expanders. Once the tissue has grown, the expander is removed and the expanded tissue is used to cover the area being reconstructed.
Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)
Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Cold-blooded, air-breathing VERTEBRATES belonging to the class Reptilia, usually covered with external scales or bony plates.
One of the MUSCARINIC ANTAGONISTS with pharmacologic action similar to ATROPINE and used mainly as an ophthalmic parasympatholytic or mydriatic.
Diseases affecting the eye.
Agents that dilate the pupil. They may be either sympathomimetics or parasympatholytics.
The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)

True hermaphroditism associated with microphthalmia. (1/230)

A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the Y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the X chromosome. This case suggested that the short arm of the X chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition.  (+info)

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (2/230)

AIM: To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia. METHODS: Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4,570,350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded. RESULTS: The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10,000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy. CONCLUSIONS: Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most cases are of unknown aetiology.  (+info)

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. (3/230)

BACKGROUND: Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS: Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. Eight members of this family underwent clinical examination to determine the nature of the microphthalmia phenotype associated with this locus. RESULTS: All affected individuals in this family suffered from bilateral microphthalmia in association with anterior segment abnormalities, and the best visual acuity achieved was "perception of light". Corneal changes included partial or complete congenital sclerocornea, and the later development of corneal vascularisation and anterior staphyloma. Intraocular pressure, as measured by Schiotz tonometry, was greatly elevated in many cases. CONCLUSIONS: This combination of ocular defects suggests an embryological disorder involving tissues derived from both the neuroectoderm and neural crest. Other families with defects in the microphthalmia gene located on 14q32 may have a similar ocular phenotype aiding their identification.  (+info)

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. (4/230)

The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a case with anterior eye chamber anomalies and an interstitial deletion of 6p24-p25 that does not include the FKHL7 gene, suggesting the possible additional involvement of another locus, within 6p24-6p25, in anterior eye chamber development. A candidate gene is AP-2alpha, which is contained within the deleted segment and plays a role in anterior eye chamber development.  (+info)

Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. (5/230)

The microphthalmic mouse (mi) possesses a 3-bp deletion of the Mi gene that alters the DNA binding site of the transcription factor gene product. This animal has diminished numbers of NK and mast cells (MC) and is osteopetrotic due to a lack of the normal complement of functional osteoclasts. The reduction of MC has been proposed to be due to the lack of adequate c-Kit expression that is required for MC differentiation. However, data from other labs has questioned this interpretation. In this report, we present data suggesting bone marrow-derived deficiencies of the mi mouse are not due to a lack of c-Kit expression and function, but instead due to an inhospitable environment within the bone marrow itself. Specifically, we have found that such animals also lack virtually all B cell precursors within the marrow and rely upon other lymphatic sites, such as the spleen, for B cell development and maturation. Although the animal has depressed numbers of NK cells, B cells, and MC, it still possesses a normal thymus and peripheral T cells. Therefore, the block in cellular differentiation must be within the marrow environment, which is essential for maturing B cells, NK cells, and MC but not T cells.  (+info)

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. (6/230)

Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3. Our laboratory isolated a novel rho GTPase-activating protein (rhoGAP) gene named ARHGAP6 from the MLS region. ARHGAP6 contains 14 exons encoding a 974 amino acid protein with three putative SH3-binding domains. Because exons 2-14 are deleted in all MLS patients, we hypothesized that ARHGAP6 may be responsible for some of the phenotypic features of MLS. We pursued two approaches to study the function of ARHGAP6 and its role in the pathogenesis of MLS: gene targeting of the rhoGAP domain in mouse embryonic stem cells and in vitro expression studies. Surprisingly, loss of the rhoGAP function of Arhgap6 does not cause any detectable phenotypic or behavioral abnormalities in the mutant mice. Transfected mammalian cells expressing ARHGAP6 lose their actin stress fibers, retract from the growth surface and extend thin, branching processes resembling filopodia. The ARHGAP6 protein co-localizes with actin filaments through an N-terminal domain and recruits F-actin into the growing processes. Mutation of a conserved arginine residue in the rhoGAP domain prevents the loss of stress fibers but has little effect on process outgrowth. These results suggest that ARHGAP6 has two independent functions: one as a GAP with specificity for RhoA and the other as a cytoskeletal protein that promotes actin remodeling.  (+info)

Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. (7/230)

PURPOSE: Microphthalmia, a bHLH-zip transcription factor associated with the onset and maintenance of pigmentation, identifies the retinal pigment epithelial (RPE) compartment during optic vesicle and optic cup development. To determine a role for microphthalmia (mi) during eye development, the effects of an mi loss of function mutation on RPE and neural retinal were investigated in the mi/mi mouse. METHODS: A series of embryonic and postnatal mi/mi and wild-type eyes were sectioned and labeled with neural retina- and RPE cell type-specific antibodies. Photoreceptor loss was quantified by counting the number of photoreceptor nuclei spanning the outer nuclear layer throughout postnatal retinal development. RESULTS: Early neural retinal differentiation is not affected in the mi/mi mouse. The mi/mi ventral retinal pigment epithelial layer begins to develop normally, but does not pigment or attain a differentiated cuboidal morphology. The dorsal region of mi/mi retinal pigment epithelium expands and forms an ectopic retina, which develops all major retinal cell types along a similar time course as the wild type. After birth, mi/mi photoreceptors begin to form rosettes, outer segments fail to elongate, and over an extended time period, the retina degenerates. CONCLUSIONS: Together these results suggest that early retinal development can proceed normally in the mi/mi mutant, but later retinal histogenesis is dependent on the presence of a differentiated retinal pigment epithelium. Most importantly, loss of mi function permits a change in cell fate from RPE to retina in the dorsal eye.  (+info)

Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. (8/230)

Microphthalmia-associated transcription factor (MITF) affects the development of many types of cells, including melanocytes and retinal pigment epithelium (RPE). MITF consists of at least three isoforms, MITF-A, MITF-H and MITF-M, differing at their amino-termini and expression patterns. Here, we characterize the structural organization of the human MITF gene. The gene contains at least four isoform-specific first exons, exons 1A, 1H, 1B and 1M in the 5' to 3' direction, each of which encodes the unique amino-terminus of a given isoform, including newly identified MITF-B. The 5'-flanking regions of these isoform-specific exons are termed promoters A, H, B and M, respectively, which showed different promoter activities, as judged by transient transfection assay. Promoter A directs the expression of a reporter gene in RPE, cervical cancer and melanoma cells, whereas promoter M is functional only in melanoma cells. Promoter H showed the significant activity in RPE and cervical cancer cells but not in melanoma cells. In contrast, the 1.7 kb 5'-flanking region of exon 1B showed no noticeable promoter activity in these cell lines. Therefore, alternative promoters provide the MITF gene with the diversity in transcriptional regulation and the capability of generating structurally different protein isoforms.  (+info)

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.

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.

An artificial eye, also known as a prosthetic eye, is a type of medical device that is used to replace a natural eye that has been removed or is not functional due to injury, disease, or congenital abnormalities. It is typically made of acrylic or glass and is custom-made to match the size, shape, and color of the patient's other eye as closely as possible.

The artificial eye is designed to fit over the eye socket and rest on the eyelids, allowing the person to have a more natural appearance and improve their ability to blink and close their eye. It does not restore vision, but it can help protect the eye socket and improve the patient's self-esteem and quality of life.

The process of fitting an artificial eye typically involves several appointments with an ocularist, who is a healthcare professional trained in the measurement, design, and fabrication of prosthetic eyes. The ocularist will take impressions of the eye socket, create a model, and then use that model to make the artificial eye. Once the artificial eye is made, the ocularist will fit it and make any necessary adjustments to ensure that it is comfortable and looks natural.

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.

Orbital diseases refer to a group of medical conditions that affect the orbit, which is the bony cavity in the skull that contains the eye, muscles, nerves, fat, and blood vessels. These diseases can cause various symptoms such as eyelid swelling, protrusion or displacement of the eyeball, double vision, pain, and limited extraocular muscle movement.

Orbital diseases can be broadly classified into inflammatory, infectious, neoplastic (benign or malignant), vascular, traumatic, and congenital categories. Some examples of orbital diseases include:

* Orbital cellulitis: a bacterial or fungal infection that causes swelling and inflammation in the orbit
* Graves' disease: an autoimmune disorder that affects the thyroid gland and can cause protrusion of the eyeballs (exophthalmos)
* Orbital tumors: benign or malignant growths that develop in the orbit, such as optic nerve gliomas, lacrimal gland tumors, and lymphomas
* Carotid-cavernous fistulas: abnormal connections between the carotid artery and cavernous sinus, leading to pulsatile proptosis and other symptoms
* Orbital fractures: breaks in the bones surrounding the orbit, often caused by trauma
* Congenital anomalies: structural abnormalities present at birth, such as craniofacial syndromes or dermoid cysts.

Proper diagnosis and management of orbital diseases require a multidisciplinary approach involving ophthalmologists, neurologists, radiologists, and other specialists.

Tissue expansion is a surgical procedure that involves the gradual stretching and expansion of surrounding skin to repair or reconstruct defects, typically caused by trauma, burns, birth defects, or cancer removal. In this process, a silicone balloon expander is inserted under the skin near the area to be repaired and then gradually filled with saline solution over time, causing the skin to stretch and grow. This allows new, healthy tissue to grow, which can then be used to reconstruct the defective area. The expanded skin has a similar texture, color, and sensation to the surrounding skin, resulting in a more natural-looking repair.

Tissue expansion devices are medical implants used in plastic and reconstructive surgery to enable the body to grow new tissue. These devices consist of a silicone balloon that is inserted under the skin near the area where additional tissue is needed. Over time, the balloon is gradually filled with a sterile saline solution through an integrated valve system, causing the overlying skin to stretch and thicken.

The expansion process can take several weeks or months, depending on the desired amount of tissue growth. Once enough new tissue has been generated, the expander is removed, and the expanded skin is used to reconstruct the defect or deficiency in the adjacent area. Tissue expansion devices are commonly used for breast reconstruction after mastectomy, as well as for repairing burns, wounds, and other soft-tissue defects.

Optic disk drusen are small, calcified deposits that form within the optic nerve head, also known as the optic disc. They are made up of protein and calcium salts and can vary in size and number. These deposits can be seen on ophthalmic examination using an instrument called an ophthalmoscope.

Optic disk drusen are typically asymptomatic and are often discovered during routine eye examinations. However, in some cases, they may cause visual disturbances or even vision loss if they compress the optic nerve fibers. They can also increase the risk of developing other eye conditions such as glaucoma.

Optic disk drusen are more commonly found in individuals with a family history of the condition and tend to occur in younger people, typically before the age of 40. While there is no cure for optic disk drusen, regular eye examinations can help monitor any changes in the condition and manage any associated visual symptoms or complications.

A cyst is a closed sac, having a distinct membrane and division between the sac and its surrounding tissue, that contains fluid, air, or semisolid material. Cysts can occur in various parts of the body, including the skin, internal organs, and bones. They can be caused by various factors, such as infection, genetic predisposition, or blockage of a duct or gland. Some cysts may cause symptoms, such as pain or discomfort, while others may not cause any symptoms at all. Treatment for cysts depends on the type and location of the cyst, as well as whether it is causing any problems. Some cysts may go away on their own, while others may need to be drained or removed through a surgical procedure.

Blindness is a condition of complete or near-complete vision loss. It can be caused by various factors such as eye diseases, injuries, or birth defects. Total blindness means that a person cannot see anything at all, while near-complete blindness refers to having only light perception or the ability to perceive the direction of light, but not able to discern shapes or forms. Legal blindness is a term used to define a certain level of visual impairment that qualifies an individual for government assistance and benefits; it usually means best corrected visual acuity of 20/200 or worse in the better eye, or a visual field no greater than 20 degrees in diameter.

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.

I'm sorry for any confusion, but "Reptiles" is not a medical term. It is a term used in biology to describe a class of cold-blooded, scaly-skinned animals that include snakes, lizards, alligators, crocodiles, turtles, and tortoises. They are characterized by having lungs for breathing, laying eggs on land, and having a three-chambered heart. If you have any medical questions or terms, I'd be happy to help clarify those!

Tropicamide is a muscarinic antagonist, which is a type of drug that blocks the action of acetylcholine in the body. In particular, it blocks the muscarinic receptors found in the eye, which results in pupil dilation (mydriasis) and paralysis of the ciliary muscle (cycloplegia).

Tropicamide is commonly used in ophthalmology as a diagnostic aid during eye examinations. It is often instilled into the eye to dilate the pupil, which allows the eye care professional to more easily examine the back of the eye and assess conditions such as cataracts, glaucoma, or retinal disorders. The cycloplegic effect of tropicamide also helps to relax the accommodation reflex, making it easier to measure the refractive error of the eye and determine the appropriate prescription for eyeglasses or contact lenses.

It is important to note that tropicamide can cause temporary blurring of vision and sensitivity to light, so patients should be advised not to drive or operate heavy machinery until the effects of the medication have worn off.

Eye diseases are a range of conditions that affect the eye or visual system, causing damage to vision and, in some cases, leading to blindness. These diseases can be categorized into various types, including:

1. Refractive errors: These include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia, which affect the way light is focused on the retina and can usually be corrected with glasses or contact lenses.
2. Cataracts: A clouding of the lens inside the eye that leads to blurry vision, glare, and decreased contrast sensitivity. Cataract surgery is the most common treatment for this condition.
3. Glaucoma: A group of diseases characterized by increased pressure in the eye, leading to damage to the optic nerve and potential blindness if left untreated. Treatment includes medications, laser therapy, or surgery.
4. Age-related macular degeneration (AMD): A progressive condition that affects the central part of the retina called the macula, causing blurry vision and, in advanced stages, loss of central vision. Treatment may include anti-VEGF injections, laser therapy, or nutritional supplements.
5. Diabetic retinopathy: A complication of diabetes that affects the blood vessels in the retina, leading to bleeding, leakage, and potential blindness if left untreated. Treatment includes laser therapy, anti-VEGF injections, or surgery.
6. Retinal detachment: A separation of the retina from its underlying tissue, which can lead to vision loss if not treated promptly with surgery.
7. Amblyopia (lazy eye): A condition where one eye does not develop normal vision, often due to a misalignment or refractive error in childhood. Treatment includes correcting the underlying problem and encouraging the use of the weaker eye through patching or other methods.
8. Strabismus (crossed eyes): A misalignment of the eyes that can lead to amblyopia if not treated promptly with surgery, glasses, or other methods.
9. Corneal diseases: Conditions that affect the transparent outer layer of the eye, such as keratoconus, Fuchs' dystrophy, and infectious keratitis, which can lead to vision loss if not treated promptly.
10. Uveitis: Inflammation of the middle layer of the eye, which can cause vision loss if not treated promptly with anti-inflammatory medications or surgery.

Mydriatics are medications that cause mydriasis, which is the dilation of the pupil. These drugs work by blocking the action of the muscarinic receptors in the iris, leading to relaxation of the circular muscle and constriction of the radial muscle, resulting in pupil dilation. Mydriatics are often used in eye examinations to facilitate examination of the interior structures of the eye. Commonly used mydriatic agents include tropicamide, phenylephrine, and cyclopentolate. It is important to note that mydriatics can have side effects such as blurred vision, photophobia, and accommodation difficulties, so patients should be advised accordingly.

The cornea is the clear, dome-shaped surface at the front of the eye. It plays a crucial role in focusing vision. The cornea protects the eye from harmful particles and microorganisms, and it also serves as a barrier against UV light. Its transparency allows light to pass through and get focused onto the retina. The cornea does not contain blood vessels, so it relies on tears and the fluid inside the eye (aqueous humor) for nutrition and oxygen. Any damage or disease that affects its clarity and shape can significantly impact vision and potentially lead to blindness if left untreated.

It may be associated with microphthalmos, cataracts, and increased intraocular pressure. Elongated ciliary processes are ...
Mutations in this gene are a cause of autosomal recessive posterior microphthalmos. The clinical features of this condition ... "Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease ...
"Ethanolamine oleate sclerotherapy in the management of orbito-palpebral cyst associated with congenital microphthalmos". Am J ... sclerotherapy versus simple cyst aspiration in the management of orbitopalpebral cyst associated with congenital microphthalmos ...
Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate. Type 1 ...
2007). "A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and ...
... microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness. Eye problems may ...
Microphthalmos (underdevelopment of one or both eyes), and Coloboma (a portion of tissue missing in the eye(s)). Premature ...
... microphthalmos (one or two small eyes), congenital cataract and degeneration of the eye with retinal detachment. Facial: ...
Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia with limb anomalies Microphthalmos, ... syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos ...
743.00 Clinical anophthalmos unspecified 743.03 Cystic eyeball congenital 743.06 Cryptophthalmos 743.1 Microphthalmos 743.2 ...
... microphthalmos MeSH C16.131.384.784 - retinal dysplasia MeSH C16.131.482.500 - lymphangiectasis, intestinal MeSH C16.131. ...
... bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, ...
Ichthyosis mental retardation Devriendt type Ichthyosis mental retardation dwarfism renal impairment Ichthyosis microphthalmos ...
... (Greek: μικρός, mikros, 'small', ὀφθαλμός, ophthalmos, 'eye'), also referred as microphthalmos, is a ...
... microphthalmos MeSH C11.250.666 - retinal dysplasia MeSH C11.270.040 - albinism MeSH C11.270.040.090 - albinism, ocular MeSH ...
... cleft lip and palate ocular anomalies such as iris and/or retinal coloboma microphthalmos cortical dysplasia pachygyria ...
Dr. Richard Allen presents both the imaging appearance and gross appearance of a microphthalmic eye with cyst.
Copyright © 2023 PC Project. All rights reserved. Pachyonychia Congenita Project is a 501(c)(3) under federal tax guidelines. Using this site means you accept its terms as outlined in the disclaimer and privacy policy. ...
Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest ... Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. ...
Jacquemin, C. ; Mullaney, P. ; Bosley, T. M. / Abnormal development of the lesser wing of the sphenoid with microphthalmos and ... Jacquemin, C, Mullaney, P & Bosley, TM 2001, Abnormal development of the lesser wing of the sphenoid with microphthalmos and ... Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. / Jacquemin, C.; Mullaney, P.; ... Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. Neuroradiology. 2001 Jan 1;43(2): ...
Juvenile glaucoma is a rare juvenile-onset open-angle glaucoma (JOAG) often found associated with myopia that shows autosomal dominant transmission. This entity does not include other childhood glaucomas outlined below in the listing of other primary developmental and secondary childhood glaucomas.
Microphthalmos 1 - OD 0 2 - OS 1 3 - OU 3 Blank 10123 356 Other 1 - OD 1 2 - OS 7 3 - OU 6 Blank 10113 357 No Abnormality 1 - ... 66 12 00 Microphthalmos 66 19 00 Anomaly, congenital, eye, multiple or generalized, type specified NEC 66 20 00 Inflammation, ...
It may be associated with microphthalmos, cataracts, and increased intraocular pressure. Elongated ciliary processes are ...
Daniel W Wang,MD, specializes in Comprehensive Ophthalmology and is on staff at MedStar Washington Hospital Center. Click here for more information and to make an appointment.
Michael Elman, MD, has practiced ophthalmology for more than 30 years and specializes in diseases of the retina and vitreous. Click here for more information and to make an appointment.
... to treat an enophthalmic appearance in microphthalmos and congenital or acquired anophthalmos.". ...
Antimongoloid slant, lateral lower eyelid colobomas, cataracts, microphthalmos, blocked tear ducts. TCOF1, POLR1C, POLR1D. ...
Microphthalmos (congenital) 743.10. *. due to toxoplasmosis (congenital) 771.2. *Poliomyelitis (acute) (anterior) (epidemic) ...
It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular ...
Therefore, MRI imaging in microphthalmos is recommended to exclude ONA. In addition, MRI of the brain is essential to diagnose ... Examination of the father (II:1) revealed unilateral left microphthalmos (corneal diameter of 7 mm) with vascularized cornea, ... The association of hypopituitarism and severe microphthalmos and anophthalmos, as well as the association of congenital ... and a left microphthalmos with an axial length of 14.7 mm, a cataractous lens, and absence of the optic nerve (Figure 2B). ...
microphthalmos (see also Microphthalmos) 743.10. *. posterior segment 743.9. *. specified type NEC 743.59. ...
microphthalmos. Listed: Jan 2019. $1,175.50 has been donated towards the cost of my adoption! ...
Abnormalities of the ear and eye: abnormally formed or absent external/middle ear, coloboma, microphthalmos. -Malformations of ...
Hence, this spectrum encopasses simple or complex microphthalmos, nanopthalmos and relative anterior microphthalmos.[1][2][3] ... Cataract surgery in relative anterior microphthalmos. Ophthalmology 2005; 112:1360-1367 *↑ 8.0 8.1 8.2 Waldmann NP, Gerber N, ... Simple microphthalmos is an eye with an AL shorter than the age-adjusted mean by two standard deviations (typically ,21.0 mm) ... On the other hand, eyes with relative anterior microphthalmos have a normal AL, shallow anterior chamber (,2.2 mm) and normal ...
... and single cases of microphthalmos and aphakia, probably of traumatic origin, accounted for the remaining 1.6%. Table 2 shows ... microphthalmos/anophthalmos, and measles/xerophthalmia accounted for the remainder. ...
Causes include dermatochalasis, brow ptosis, hypotropia, microphthalmos, anophthalmos, phthisis bulbi, and contralateral eyelid ...
"MICROPHTHALMOS" N1OP0356 = "OTHER " N1OP0357 = "NO ABNORALITY" N1OP0358 = "CONJUCTIVA-BITOTS SPOT" N1OP0359 = "CONJUNCTIVITIST ...
Congenital ocular malformations (especially microphthalmos) occur with some frequency in captive breed reptiles possibly as ...
Microphthalmos. 0. 0. 0.04. 0.05. 0.02. Other. 0.03. 0.04. 0.04. 0.07. 0.04. 2.2. ...
... anophthalmia and microphthalmos), reduction of the mandible and tail, as well as hepatocele (exomphaly). There are no adequate ...
Sixteen children under 15 years of age and with non-traumatic cataract, microphthalmos, anophthalmos, congenital glaucoma and ... microphthalmos and anophthalmos should be investigated for possible congenital rubella syndrome [15]. A list of these children ...
B-scan for opaque media (to rule out ocular morbidity, such as microphthalmos, coloboma, primary persistent hyperplasic ...
Microphthalmos occur with some frequency in captive breed reptiles possibly as a consequence of inbreeding, or environmental ...
... as well as microphthalmos and malformations of the heart, kidneys, intestines, and ears ...
  • Congenital ocular malformations (especially microphthalmos) occur with some frequency in captive breed reptiles possibly as consequence of inbreeding, or environmental conditions. (vin.com)
  • Microphthalmia ( microphthalmos) is a congenital underdevelopment or acquired diminution in size of eye ball. (neuroradiologycases.com)
  • Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. (davefenwick.com)
  • Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. (davefenwick.com)
  • If there are concomitant anatomical malformations such as anterior segment dysgenesis, iris or chorioretinal colobomas, retinal dysplasia or persistent fetal vasculature, there is a complex microphthalmos. (aao.org)
  • It is associated with cataract, microphthalmos, and iridocorneal dysgenesis. (eyepatient.net)
  • Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported. (arizona.edu)
  • MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (harvard.edu)
  • Thus, in microphthalmos, eye(s) that begin(s) to form during pregnancy do not develop fully, resulting in an eye with significantly reduced volume. (drsnehashah.com)
  • Microphthalmos with cyst in monozygous twins. (nih.gov)
  • Microphthalmos with cyst. (nih.gov)
  • 2. [Microphthalmos with large orbital cyst--case report]. (nih.gov)
  • An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis , an arachnoid cyst in the middle cranial fossa, and microphthalmos . (lookfordiagnosis.com)
  • The International Clearinghouse for Birth Defects Monitoring Systems defines anophthalmia and microphthalmia as "anophthalmos/microphthalmos: apparently absent or small eyes. (biomedcentral.com)
  • Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. (davefenwick.com)
  • Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. (davefenwick.com)
  • Management of microphthalmos and anophthalmos: prosthetic experience. (nih.gov)
  • The ocularists' management of congenital microphthalmos and anophthalmos. (nih.gov)
  • When Do Symptoms of Microcephaly microphthalmos blindness Begin? (nih.gov)
  • When compared with non-exposed controls, the data showed that strabismus, subnormal vision, ptosis, short palpebral fissure length, microphthalmos, smaller optic disc area and retinal vessel tortuosity were more prevalent in children with FASD. (reviewofoptometry.com)
  • The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. (nih.gov)
  • We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. (wisc.edu)
  • It may be associated with microphthalmos, cataracts, and increased intraocular pressure. (wikipedia.org)
  • Genetics of microphthalmos. (nih.gov)
  • She was born with a small eye - she has Microphthalmos of the right eye - a genetic disorder. (horseandman.com)