Ectopia Cordis
Marfan Syndrome
Lens Subluxation
Pupil Disorders
Microfilament Proteins
Thrombospondins
Homocystinuria
Pedigree
Iris
Lod Score
Anterior Chamber
Encyclopedias as Topic
Miotics
Tenon Capsule
Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling. (1/40)
Fibrillin is the principal structural component of the 10-12 nm diameter elastic microfibrils of the extracellular matrix. We have previously shown that both fibrillin molecules and assembled microfibrils are susceptible to degradation by serine proteases. In this study, we have investigated the potential catabolic effects of six matrix metalloproteinases (MMP-2, MMP-3, MMP-9, MMP-12, MMP-13 and MMP-14) on fibrillin molecules and on intact fibrillin-rich microfibrils isolated from ciliary zonules. Using newly synthesized recombinant fibrillin molecules, major cleavage sites within fibrillin-1 were identified. In particular, the six different MMPs generated a major degradation product of approximately 45 kDa from the N-terminal region of the molecule, whereas treatment of truncated, unprocessed and furin-processed C-termini also generated large degradation products. Introduction of a single ectopia lentis-causing amino acid substitution (E2447K; one-letter symbols for amino acids) in a calcium-binding epidermal growth factor-like domain, predicted to disrupt calcium binding, markedly altered the pattern of C-terminal fibrillin-1 degradation. However, the fragmentation pattern of a mutant fibrillin-1 with a comparable E-->K substitution in an upstream calcium-binding epidermal growth factor-like domain was indistinguishable from wild-type molecules. Ultrastructural examination highlighted that fibrillin-rich microfibrils isolated from ciliary zonules were grossly disrupted by MMPs. This is the first demonstration that fibrillin molecules and fibrillin-rich microfibrils are degraded by MMPs and that certain amino acid substitutions change the fragmentation patterns. These studies have important implications for physiological and pathological fibrillin catabolism and for loss of connective tissue elasticity in ageing and disease. (+info)Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (2/40)
OBJECTIVE: It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS). FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA). When the clinical presentation is typical, diagnosis of MFS is usually easy to make. However, there can be a marked phenotypic variation between affected subjects even in one family, and making the diagnosis can be challenging, especially in childhood. The objective of this study was to test the sensitivity of conformation sensitive gel electrophoresis (CSGE) for detecting mutations in FBN1 in MFS and related phenotypes. DESIGN: Setting up CSGE analysis for the FBN1 gene and testing the method first by screening coded samples from 17 MFS patients with previously detected FBN1 mutations. We then used a test set consisting of 46 coded samples representing MFS, related phenotypes, and controls. RESULTS: Sixteen of the 17 known mutations were detected. Altogether 23 mutations were detected in a test set consisting of 46 coded samples representing MFS, related phenotypes, and controls. Nineteen of the mutations were novel. The mutation was detected in 18 of the 20 MFS patients and in one patient with familial EL, but not in a patient with sporadic MASS syndrome, any of the five sporadic annuloaortic ectasia (AAE) patients, or any of the 15 controls. A FBN1 mutation was detected in four members of a multigeneration family with AAE, however. CONCLUSIONS: These results indicate that CSGE is highly sensitive for the detection of mutations in FBN1, and that molecular diagnostics is a useful means of confirming clinical diagnoses of MFS and related disorders. Further careful investigations are needed, however, in order to correlate the interfamilial and intrafamilial clinical variabilities of fibrillinopathies and mutations in FBN1. (+info)Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. (3/40)
BACKGROUND: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus. METHODS: A consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing. RESULTS: Six mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%). CONCLUSION: The FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently. (+info)Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. (4/40)
BACKGROUND: The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. METHODS: Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). RESULTS: Genetic linkage was established between the Marfan syndrome and only the fibrillin gene on chromosome 15, with a maximum lod score of 25.6 (odds for linkage, 10(25.6):1). Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral-valve prolapse to the fibrillin gene on chromosome 5; studies of chromosome 15 were not informative. Annuloaortic ectasia was not linked to either fibrillin gene. CONCLUSIONS: The Marfan syndrome appears to be caused by mutations in a single fibrillin gene on chromosome 15. Diagnosis of the Marfan syndrome by genetic linkage and analysis is now feasible in many families. (+info)Scleral suspension pars-plana lensectomy for ectopia lentis followed by suture fixation of intraocular lens. (5/40)
PURPOSE: To describe a simple technique of scleral suspension-pars plana lensectomy (SS-PPL) in acquired and congenital ectopia lentis and scleral fixation of intraocular lens (IOL). MATERIALS AND METHODS: Twenty eyes of 16 patients (12 unilateral and 4 bilateral cases of "essential familial lens subluxation") aged 10-40 years (mean 25 years) underwent SS-PPL with implantation of scleral fixated IOL. Indications for surgery were best-corrected visual acuity < 6/18, bisection of pupil by the lens, and lens-induced glaucoma. Prerequisites for SS-PPL were, visibility of part of the lens in the pupillary area and soft lens. RESULTS: Postoperative visual acuity ranged from 6/6 - 6/36. Lens tilt in 3 cases(15%) and small decentration in 2 cases(10%) were seen; however these did not seriously compromise the visual result. Scant vitreous bleeding on the first postoperative day was seen in 3 cases (15%). CONCLUSION: The advantages of the scleral suspension of subluxated lens prior to lensectomy include stabilization; it allows proper viewing of the lens, avoids injury to the iris and ciliary body during lensectomy and reduces the possibility of dislocation of the lens. (+info)Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (6/40)
Weill-Marchesani syndrome (WMS) is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and feet and stiff joints, especially in the hands. Occasionally, it is associated with heart defects and mental retardation. The main ocular features of WMS are microspherophakia (small and spherical crystalline lens), ectopia lentis (a displaced or malpositioned lens), severe myopia and glaucoma. Rare findings include asymmetric axial lengths associated with presenile vitreous liquefaction. A 14-year-old patient with WMS, who developed a secondary glaucoma and suffered visual loss from the ocular features of WMS, is described. The clinical findings and its successful management are also reported. (+info)Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. (7/40)
PURPOSE: To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus. METHODS: Patients from seven Chinese families underwent complete physical, ophthalmic, and cardiovascular examination. Genomic DNA was extracted from leukocytes of peripheral blood from the patients. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. RESULTS: Three novel mutations, c.203G>T in exon 2, c.502T>C in exon 5, and c.2096G>C in exon 16 as well as four known mutations, c.364C>T in exon 4, c.1633C>T in exon 13, c.1879C>T in exon 15, and c.4588C>T in exon37, were identified in FBN1. CONCLUSIONS: We identified three novel mutations and four known mutations in FBN1 and found cysteine substitution highly related to EL. These results expand the mutation spectrum in FBN1 and enrich our knowledge of genotype-phenotype correlations due to FBN1 mutations. To our knowledge, this is the first report of cysteine residue loss in the unique NH2-terminal domain of fibrillin-1. (+info)Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. (8/40)
Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis. (+info)Ectopia lentis is a medical term that refers to the displacement or malpositioning of the lens in the eye. The lens, which is normally located behind the iris and held in place by tiny fibers called zonules, can become dislocated due to various reasons such as genetic disorders like Marfan syndrome, trauma, or other ocular diseases.
When the lens becomes displaced, it can cause a variety of symptoms including blurry vision, double vision, sensitivity to light, and distorted images. In some cases, ectopia lentis may be asymptomatic and only discovered during a routine eye examination. Treatment for ectopia lentis depends on the severity of the displacement and any associated symptoms. In mild cases, no treatment may be necessary, while in more severe cases, surgery may be required to reposition or remove the lens and replace it with an artificial one.
Ectopia Cordis is a rare congenital condition in which the heart or a portion of it is located outside the chest wall during fetal development. It is caused by the failure of the anterior chest wall and ventricular septum to close properly, resulting in the heart being exposed on the exterior of the body or covered only by a thin layer of skin. This condition is often associated with other congenital defects, such as cardiac abnormalities, chromosomal anomalies, and genetic syndromes. The severity of ectopia cordis can vary widely, from mild cases where the heart is partially outside the chest to severe cases where it is completely exposed. Treatment typically involves surgical correction, which can be complex due to the presence of other associated defects.
Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue helps to strengthen and support various structures in the body, including the skin, ligaments, blood vessels, and heart. In Marfan syndrome, the body produces an abnormal amount of a protein called fibrillin-1, which is a key component of connective tissue. This leads to problems with the formation and function of connective tissue throughout the body.
The most serious complications of Marfan syndrome typically involve the heart and blood vessels. The aorta, which is the large artery that carries blood away from the heart, can become weakened and stretched, leading to an increased risk of aortic dissection or rupture. Other common features of Marfan syndrome include long, thin fingers and toes; tall stature; a curved spine; and eye problems such as nearsightedness and lens dislocation.
Marfan syndrome is usually inherited in an autosomal dominant pattern, which means that a child has a 50% chance of inheriting the gene mutation from a parent who has the condition. However, about 25% of cases are the result of a new mutation and occur in people with no family history of the disorder. There is no cure for Marfan syndrome, but treatment can help to manage the symptoms and reduce the risk of complications.
Lens subluxation, also known as lens dislocation or ectopia lentis, is a condition where the lens of the eye becomes partially or completely displaced from its normal position. The lens is held in place by tiny fibers called zonules, which can become weakened or broken due to various reasons such as genetic disorders (like Marfan syndrome, homocystinuria, and Weill-Marchesani syndrome), trauma, inflammation, or cataract surgery complications. This displacement can lead to symptoms like blurry vision, double vision, sensitivity to light, or the appearance of a shadow in the peripheral vision. In some cases, lens subluxation may not cause any noticeable symptoms and can be discovered during routine eye examinations. Treatment options depend on the severity and underlying cause of the subluxation and may include eyeglasses, contact lenses, or surgical intervention to remove and replace the displaced lens with an intraocular lens (IOL).
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.
Microfilament proteins are a type of structural protein that form part of the cytoskeleton in eukaryotic cells. They are made up of actin monomers, which polymerize to form long, thin filaments. These filaments are involved in various cellular processes such as muscle contraction, cell division, and cell motility. Microfilament proteins also interact with other cytoskeletal components like intermediate filaments and microtubules to maintain the overall shape and integrity of the cell. Additionally, they play a crucial role in the formation of cell-cell junctions and cell-matrix adhesions, which are essential for tissue structure and function.
Thrombospondins (TSPs) are a family of multifunctional glycoproteins that are involved in various biological processes, including cell adhesion, migration, proliferation, differentiation, and angiogenesis. They were initially identified as calcium-binding proteins that are secreted by platelets during blood clotting (thrombosis), hence the name thrombospondin.
There are five members in the TSP family, designated as TSP-1 to TSP-5, and they share a common structure consisting of several domains, including an N-terminal domain, a series of type 1 repeats, a type 2 (von Willebrand factor C) repeat, a type 3 repeat, and a C-terminal domain.
TSP-1 and TSP-2 are secreted proteins that have been extensively studied for their roles in the regulation of angiogenesis, the process of new blood vessel formation. They bind to various extracellular matrix components, growth factors, and cell surface receptors, and can either promote or inhibit angiogenesis depending on the context.
TSP-3 to TSP-5 are expressed in a variety of tissues and play roles in cell adhesion, migration, and differentiation. They have been implicated in various pathological conditions, including cancer, fibrosis, and neurodegenerative diseases.
Overall, thrombospondins are important regulators of extracellular matrix dynamics and cell-matrix interactions, and their dysregulation has been associated with a variety of diseases.
Homocystinuria is a genetic disorder characterized by the accumulation of homocysteine and its metabolites in the body due to a deficiency in the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for converting homocysteine to cystathionine, which is a critical step in the metabolic pathway that breaks down methionine.
As a result of this deficiency, homocysteine levels in the blood increase and can lead to various health problems, including neurological impairment, ocular abnormalities (such as ectopia lentis or dislocation of the lens), skeletal abnormalities (such as Marfan-like features), and vascular complications.
Homocystinuria can be diagnosed through newborn screening or by measuring homocysteine levels in the blood or urine. Treatment typically involves a low-methionine diet, supplementation with vitamin B6 (pyridoxine), betaine, and/or methylcobalamin (a form of vitamin B12) to help reduce homocysteine levels and prevent complications associated with the disorder.
A choristoma is a type of growth that occurs when normally functioning tissue is found in an abnormal location within the body. It is not cancerous or harmful, but it can cause problems if it presses on surrounding structures or causes symptoms. Choristomas are typically congenital, meaning they are present at birth, and are thought to occur due to developmental errors during embryonic growth. They can be found in various organs and tissues throughout the body, including the brain, eye, skin, and gastrointestinal tract.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.
The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).
Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.
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.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.
The anterior chamber is the front portion of the eye, located between the cornea (the clear front "window" of the eye) and the iris (the colored part of the eye). It is filled with a clear fluid called aqueous humor that provides nutrients to the structures inside the eye and helps maintain its shape. The anterior chamber plays an important role in maintaining the overall health and function of the eye.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Miotics, also known as parasympathomimetics or cholinergic agents, are a class of medications that stimulate the parasympathetic nervous system. They work by activating muscarinic receptors, which are found in various organs throughout the body, including the eye. In the eye, miotics cause contraction of the circular muscle of the iris, resulting in pupillary constriction (miosis). This action can help to reduce intraocular pressure in patients with glaucoma.
Miotics may also have other effects on the eye, such as accommodation (focusing) and decreasing the production of aqueous humor. Some examples of miotics include pilocarpine, carbachol, and ecothiopate. It's important to note that the use of miotics can have side effects, including blurred vision, headache, and brow ache.
The Tenon's capsule, also known as the fibrous layer of the sclera or the episcleral fascia, is a thick, fibrous sheath that encloses the eyeball's outer coat, the sclera. It starts at the limbus (the junction between the cornea and sclera) and extends backward to merge with the sheaths of the extraocular muscles.
The Tenon's capsule functions as a protective layer for the eye and allows for smooth movement by reducing friction between the eyeball and its surrounding tissues. It also serves as a potential space for the accumulation of fluid or inflammatory cells during ocular diseases, leading to conditions such as tenonitis or tenosynovitis.
A pupil, in medical terms, refers to the circular opening in the center of the iris (the colored part of the eye) that allows light to enter and reach the retina. The size of the pupil can change involuntarily in response to light intensity and emotional state, as well as voluntarily through certain eye exercises or with the use of eye drops. Pupillary reactions are important in clinical examinations as they can provide valuable information about the nervous system's functioning, particularly the brainstem and cranial nerves II and III.
Ectopia lentis
Blepharoptosis-myopia-ectopia lentis syndrome
Autosomal recessive isolated ectopia lentis
Subluxation
Microspherophakia
List of OMIM disorder codes
Hyperlysinemia
Fibrillin-1
Teddy Roosevelt Terrier
Hyperhomocysteinemia
Lens (vertebrate anatomy)
Marfan syndrome
Corectopia
Zamzam-Sheriff-Phillips syndrome
Sudden cardiac death of athletes
ADAMTS17
Lens induced glaucomas
Jack Russell Terrier
Karl Stellwag von Carion
Weill-Marchesani syndrome
Photophobia
List of feline diseases
List of diseases (E)
Homocystinuria
Ectopia (medicine)
List of MeSH codes (C16)
List of diseases (B)
Acromicric dysplasia
Stiff skin syndrome
Transforming growth factor beta
Ectopia lentis - Wikipedia
Isolated ectopia lentis: MedlinePlus Genetics
Ectopia Lentis Differential Diagnoses
Isolated ectopia lentis: MedlinePlus Genetics
Management of ectopia lentis in children - PubMed
Isolated ectopia lentis - Getting a Diagnosis - Genetic and Rare Diseases Information Center
Ectopia lentis isolated - CheckOrphan
CRSTG | Europe Edition | Ectopia Lentis in a Patient With Marfan Syndrome
Ectopia Lentis et Pupillae | Eye Patient
AUTOSOMAL RECESSIVE ISOLATED ECTOPIA LENTIS TYPE 2 , SEQUENCING ADAMTSL4 GENE - RefLab Genetics
Marfan Syndrome - American Association for Pediatric Ophthalmology and Strabismus
What is Ectopia Lentis | Dislocated Lens - Board Certified Eye Doctors | Burlington Bucks County Millville
Marfan Syndrome: New Challenges
Hyperlysinemia - Wikipedia
Frank Strother Ashburn, MD| Comprehensive Ophthalmology | MedStar Health
Opthamology Data (1971-75)
Biomarkers Search
SMART: EGF domain annotation
New research on Marfan syndrome focuses on eyes | National Eye Institute
IndexCat
Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf
SMART: EGF domain annotation
SMART: EGF domain annotation
Molecular Vision: Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome
What is Marfan Syndrome? Symptoms & Causes | NIAMS
What is Marfan Syndrome? Symptoms & Causes | NIAMS
Molecular Vision: Comparative transcriptome analysis of epithelial and fiber cells in newborn mouse lenses with RNA sequencing
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature |...
CRSTG | Europe Edition | Atypical Keratitis
Myopia1
- People with ectopia lentis et pupillae have eye and vision problems similar to those with isolated ectopia lentis (described above), including nearsightedness (myopia), farsightedness (hyperopia), or an irregular curvature of the front of the eye (astigmatism). (medlineplus.gov)
Glaucoma1
- Ectopia lentis, associated with late diagnosis of CbS deficiency, was identified as the major risk factor for other ocular complications, including strabismus (24%), dense cataract (21%), acute pupillary block glaucoma (19%), retinal detachment (15%), and unilateral blindness (18%) [32]. (hcusupport.com)
Congenital3
- Berryat described the first reported case of lens dislocation in 1749, and Stellwag subsequently coined the term ectopia lentis in 1856 (describing a patient with congenital lens dislocation). (medscape.com)
- When congenital, this condition is known as ECTOPIA LENTIS. (sdsu.edu)
- Ectopia lentis is, of course, the classical ocular feature and is often if not always congenital with some progression. (arizona.edu)
Syndrome8
- In humans, a number of systemic conditions are associated with ectopia lentis: More common: Marfan syndrome (upward and outward) Homocystinuria (downward and inwards) Weill-Marchesani syndrome Sulfite oxidase deficiency Molybdenum cofactor deficiency Hyperlysinemia Less common: Ehlers-Danlos syndrome Crouzon disease Refsum syndrome Kniest syndrome Mandibulofacial dysostosis Sturge-Weber syndrome Conradi syndrome Pfaundler syndrome Pierre Robin syndrome Wildervanck syndrome Sprengel deformity List of systemic diseases with ocular manifestations Ketring, Kerry I. (2006). (wikipedia.org)
- Omulecki W, Wilczynski M, Gerkowicz M. Management of bilateral ectopia lentis et pupillae syndrome. (medscape.com)
- Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. (medlineplus.gov)
- Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . (medlineplus.gov)
- This consecutive retrospective case series sought to predict axial length (AL) growth in patients with Marfan syndrome (MFS) and ectopia lentis (EL). (crstoday.com)
- A consecutive retrospective case series found that axial length (AL) growth followed a logarithmic pattern and ceased at about 15 years of age in patients with Marfan syndrome (MFS) and ectopia lentis. (crstoday.com)
- Ectopia lentis in Marfan's syndrome. (umassmed.edu)
- Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies. (bmj.com)
Rhegmatogenous retinal1
- He had bilateral ectopia lentis with rhegmatogenous retinal detachment sparing the macula in the left eye. (nepjol.info)
Subluxation1
- Many patients develop ectopia lentis (lens subluxation), intellectual disability, and osteoporosis. (msdmanuals.com)
ADAMTSL49
- Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. (medlineplus.gov)
- ADAMTSL4- associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. (molvis.org)
- A cross-sectional case study series of four individuals with biallelic pathogenic or likely pathogenic ADAMTSL4 variants was performed alongside a literature review of individuals with ADAMTSL4 -associated ectopia lentis on September 29, 2021. (molvis.org)
- The clinical phenotype of ADAMTSL4 -associated ectopia lentis was summarized and expanded. (molvis.org)
- In this study, we describe a series of four previously unreported individuals from three pedigrees and summarize the phenotypic spectrum of ADAMTSL4 -associated ectopia lentis. (molvis.org)
- At least 15 mutations in the ADAMTSL4 gene have been found to cause isolated ectopia lentis. (medlineplus.gov)
- Some ADAMTSL4 gene mutations cause an eye condition called ectopia lentis et pupillae. (medlineplus.gov)
- Similar to isolated ectopia lentis, the ADAMTSL4 gene mutations that cause ectopia lentis et pupillae lead to decreased production of microfibrils or the formation of impaired microfibrils, which prevents the proper anchoring of certain structures in the eyes. (medlineplus.gov)
- Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rodahl E. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. (medlineplus.gov)
Abnormalities1
- Its diverse clinical expression may include ectopia lentis, skeletal abnormalities, mental retardation, and premature arteriosclerosis and thrombosis. (nih.gov)
Autosomal Dominant2
- When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
- Mutations in FBN1 have also been found in cases with isolated autosomal dominant ectopia lentis ( 129600 ). (arizona.edu)
Bilateral1
- Abnormal development of these zonules can lead to primary ectopia lentis, usually a bilateral condition. (wikipedia.org)
Clinical1
- Clark CC. Ectopia lentis: a pathologic and clinical study. (medscape.com)
Intraocular1
- Purpose: To report a small series of pediatric patients with ectopia lentis that underwent limbal-approach lensectomy and vitrectomy and scleral-fixated intraocular lens implantation and to review the literature on the topic of surgical management of ectopia lentis. (wustl.edu)
Systemic2
- In the absence of trauma, ectopia lentis should evoke suspicion for concomitant hereditary systemic disease or associated ocular disorders. (medscape.com)
- Patients with heritable conditions associated with ectopia lentis may have other systemic complications. (medscape.com)
Vitrectomy1
- Conclusion: Surgical intervention for ectopia lentis via vitrectomy techniques yields good result. (wustl.edu)
Displacement4
- Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. (wikipedia.org)
- Ectopia lentis may cause marked visual disturbance, which varies with the degree of lens displacement and the underlying etiologic abnormality. (medscape.com)
- As a result, there is a reduction in filaments to anchor the lens in its central position at the front of the eye, leading to its displacement and the vision problems characteristic of isolated ectopia lentis. (medlineplus.gov)
- Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans. (wikipedia.org)
Occur at any age1
- Ectopia lentis can occur at any age. (medscape.com)
Mutations2
- Mutations in the same gene have also been found in the autosomal recessive form of isolated ectopia lentis ( 225100 ). (arizona.edu)
- In the eye, the mutations weaken the zonule fibers to the point of breaking and letting go of the lens, a condition called ectopia lentis. (nih.gov)
Homocystinuria1
- The natural history of developing ectopia lentis in classical homocystinuria is such that 70% had ectopia lentis by age 10 years [9]. (hcusupport.com)
Patients2
- Those patients who have trauma-associated ectopia lentis may have other more life-threatening complications (depending on the severity of the trauma). (medscape.com)
- Patients with ectopia lentis associated with a heritable condition need to be educated on the importance of following up with a primary care physician to rule out life-threatening disorders. (medscape.com)
Genetic1
- I have ectopia lentis due to a genetic cause, and I am myopic. (icliniq.com)
Zonular1
- Disruption or dysfunction of the zonular fibers of the lens, regardless of cause (trauma or heritable condition), is the underlying pathophysiology of ectopia lentis. (medscape.com)
Condition2
- Ectopia lentis is a rare condition. (medscape.com)
- Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. (medlineplus.gov)
Complications1
- Konradsen T, Kugelberg M, Zetterström C. Visual outcomes and complications in surgery for ectopia lentis in children. (medscape.com)
Childhood2
- Nelson L. Ectopia lentis in childhood. (medscape.com)
- Isolated ectopia lentis usually becomes apparent in childhood. (medlineplus.gov)
Cases2
- The most common cause of ectopia lentis is trauma , which accounts for nearly one half of all cases of lens dislocation . (medscape.com)
- In Denmark, an estimated 6.4 per 100,000 individuals have ectopia lentis, but a large proportion of these cases (about 75 percent) are syndromic. (medlineplus.gov)
People4
- In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). (medlineplus.gov)
- The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis. (medlineplus.gov)
- This graph shows the total number of publications written about "Ectopia Lentis" by people in this website by year, and whether "Ectopia Lentis" was a major or minor topic of these publications. (umassmed.edu)
- Below are the most recent publications written about "Ectopia Lentis" by people in Profiles. (umassmed.edu)
Symptoms1
- Ectopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. (medlineplus.gov)
Common1
- are common in isolated ectopia lentis. (medlineplus.gov)
Surgery1
- If you have good vision with spectacles and contact lenses, surgery for ectopia lentis can be denied. (icliniq.com)
Eyes2
- I am a 25-year-female with ectopia lentis, and in recent months, I have felt pain and irritation in my eyes on wearing contact lenses. (icliniq.com)
- Q. Why do my eyes get pain and swelling while wearing contact lenses in ectopia lentis? (icliniq.com)