Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. EC 3.1.3.
A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.

Pseudoeosinophilic leucocyte response to denuding the rabbit cornea. (1/18)

After scraping the epithelium from the rabbit's cornea, pseudoeosinophilic leucocytes appeared in the limbic area within one hour and began to advance, presumably by means of pseudopodia, into the anterior corneal stroma. The cytoplasmic granules of these cells were intensely stained by eosin and by the Undritz peroxidase method during the first hour, but were not stained by the PAS method until the eighteenth hour. Electron microscopy failed to show crystalloids in the granules. The cellular changes were followed until the fourth day, by which time most of the cells had disappeared by fragmentation, karyorrhexis and lysis.  (+info)

Congenital hydrocephalus associated with congenital glaucoma and natal teeth. (2/18)

We report the first described association of natal teeth with congenital hydrocephalus and congenital glaucoma, anterior segment dysgenesis with non-attachment of the retina. The clinical findings support a diagnosis of Walker-Warburg syndrome. The forkhead 7 transcription factor gene is proposed as a candidate gene for this syndrome.  (+info)

Neoadjuvant chemotherapy for extensive unilateral retinoblastoma. (3/18)

AIM: The role of neoadjuvant chemotherapy was studied when first line enucleation cannot be safely performed in unilateral extensive retinoblastoma (major buphthalmia or radiologically detectable optic nerve involvement). METHODS: Six patients, referred for unilateral retinoblastoma, presented with major buphthalmia (two) or optic nerve invasion (four): they were treated by neoadjuvant chemotherapy using etoposide and carboplatin. RESULTS: Good tumour response was observed in the two patients with buphthalmia and in three of four cases with optic nerve involvement. Meningeal progressive disease was observed in the last patient. The five patients without disease progression were then operated on: anterior enucleation in the patients with buphthalmia and enucleation via a double neurosurgical and ophthalmological approach with prechiasmatic optic nerve section in the other three cases. Postoperative chemotherapy was performed in these five patients. Local radiotherapy to the chiasmatic region and posterior part of the optic canal was necessary in only one patient. The non-operated patient died with disease progression 6 months after the diagnosis. The other five patients are alive with a follow up of 12, 15, 21, 36, and 40 months after stopping treatment. CONCLUSION: Neoadjuvant chemotherapy can be useful in extensive unilateral retinoblastoma with buphthalmia and/or radiological optic nerve invasion at diagnosis.  (+info)

VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humans. (4/18)

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A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (5/18)

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Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. (6/18)

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Surgical outcomes with 360-degree suture trabeculotomy in poor-prognosis primary congenital glaucoma and glaucoma associated with congenital anomalies or cataract surgery. (7/18)

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Medical and surgical outcomes in childhood glaucoma: a population-based study. (8/18)

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Hydrophthalmos is a medical term that refers to an abnormal increase in the size of the eyeball, also known as buphthalmos. This condition is typically caused by an elevated pressure inside the eye, a situation known as glaucoma. The high pressure leads to stretching and expansion of the eyeball, which can result in damage to the optic nerve and vision loss if not treated promptly. It's important to note that hydrophthalmos is most commonly seen in infants and young children, and it can be associated with other congenital anomalies or syndromes.

Oculocerebrorenal syndrome, also known as Lowe syndrome, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It's characterized by congenital cataracts, intellectual disability, and progressive kidney disease. The condition is caused by mutations in the OCRL gene, which provides instructions for making an enzyme called phosphatidylinositol 4,5-bisphosphate 5-phosphatase. This enzyme plays a crucial role in cell signaling and trafficking within cells.

The symptoms of oculocerebrorenal syndrome can vary widely among affected individuals, but they typically include:

* Eye abnormalities: Most people with the condition are born with congenital cataracts that need to be removed soon after birth. Other eye problems may include glaucoma, strabismus (crossed eyes), and optic nerve damage, which can lead to vision loss.
* Brain abnormalities: Intellectual disability is a common feature of the condition, ranging from mild to severe. Affected individuals may also have delayed development, behavioral problems, and difficulty with coordination and movement.
* Kidney abnormalities: Progressive kidney disease is a hallmark of oculocerebrorenal syndrome. The kidneys may become enlarged and scarred, leading to kidney failure in some cases. Other kidney-related symptoms can include proteinuria (protein in the urine), hematuria (blood in the urine), and high blood pressure.

There is no cure for oculocerebrorenal syndrome, but treatments can help manage the symptoms. For example, cataract surgery can improve vision, while medications and dietary changes can help manage kidney disease. Early intervention and supportive care can also help improve outcomes for affected individuals.

Inborn errors of renal tubular transport refer to genetic disorders that affect the normal functioning of the kidney tubules. The kidney tubules are responsible for the reabsorption and secretion of various substances, including electrolytes and nutrients, as urine is formed. Inherited defects in the proteins that mediate these transport processes can lead to abnormal levels of these substances in the body and may result in a variety of clinical symptoms.

These disorders can affect different parts of the renal tubule, including the proximal tubule, loop of Henle, distal tubule, and collecting duct. Depending on the specific transporter affected, inborn errors of renal tubular transport can present with a range of clinical manifestations, such as electrolyte imbalances, acid-base disorders, growth retardation, kidney stones, nephrocalcinosis, or even kidney failure.

Examples of inborn errors of renal tubular transport include:

1. Distal renal tubular acidosis (dRTA): A genetic disorder that affects the ability of the distal tubule to acidify urine, leading to metabolic acidosis, hypokalemia, and nephrocalcinosis.
2. Bartter syndrome: A group of autosomal recessive disorders characterized by impaired sodium reabsorption in the loop of Henle, resulting in hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
3. Gitelman syndrome: An autosomal recessive disorder caused by a defect in the thiazide-sensitive sodium chloride cotransporter in the distal tubule, leading to hypokalemia, metabolic alkalosis, and hypocalciuria.
4. Liddle syndrome: An autosomal dominant disorder characterized by increased sodium reabsorption in the collecting duct due to a gain-of-function mutation in the epithelial sodium channel (ENaC), resulting in hypertension, hypokalemia, and metabolic alkalosis.
5. Dent disease: An X-linked recessive disorder caused by mutations in the CLCN5 gene, which encodes a chloride channel in the proximal tubule, leading to low molecular weight proteinuria, hypercalciuria, and nephrolithiasis.
6. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): An autosomal recessive disorder caused by mutations in the CLCN5 or CLDN16 genes, which encode chloride channels in the thick ascending limb of Henle's loop, resulting in hypomagnesemia, hypercalciuria, and nephrocalcinosis.

Phosphoric monoester hydrolases are a class of enzymes that catalyze the hydrolysis of phosphoric monoesters into alcohol and phosphate. This class of enzymes includes several specific enzymes, such as phosphatases and nucleotidases, which play important roles in various biological processes, including metabolism, signal transduction, and regulation of cellular processes.

Phosphoric monoester hydrolases are classified under the EC number 3.1.3 by the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (IUBMB). The enzymes in this class share a common mechanism of action, which involves the nucleophilic attack on the phosphorus atom of the substrate by a serine or cysteine residue in the active site of the enzyme. This results in the formation of a covalent intermediate, which is then hydrolyzed to release the products.

Phosphoric monoester hydrolases are important therapeutic targets for the development of drugs that can modulate their activity. For example, inhibitors of phosphoric monoester hydrolases have been developed as potential treatments for various diseases, including cancer, neurodegenerative disorders, and infectious diseases.

Fanconi syndrome is a medical condition that affects the proximal tubules of the kidneys. These tubules are responsible for reabsorbing various substances, such as glucose, amino acids, and electrolytes, back into the bloodstream after they have been filtered through the kidneys.

In Fanconi syndrome, there is a defect in the reabsorption process, causing these substances to be lost in the urine instead. This can lead to a variety of symptoms, including:

* Polyuria (excessive urination)
* Polydipsia (excessive thirst)
* Dehydration
* Metabolic acidosis (an imbalance of acid and base in the body)
* Hypokalemia (low potassium levels)
* Hypophosphatemia (low phosphate levels)
* Vitamin D deficiency
* Rickets (softening and weakening of bones in children) or osteomalacia (softening of bones in adults)

Fanconi syndrome can be caused by a variety of underlying conditions, including genetic disorders, kidney diseases, drug toxicity, and heavy metal poisoning. Treatment typically involves addressing the underlying cause, as well as managing symptoms such as electrolyte imbalances and acid-base disturbances.

Renal tubular acidosis (RTA) is a medical condition that occurs when the kidneys are unable to properly excrete acid into the urine, leading to an accumulation of acid in the bloodstream. This results in a state of metabolic acidosis.

There are several types of RTA, but renal tubular acidosis type 1 (also known as distal RTA) is characterized by a defect in the ability of the distal tubules to acidify the urine, leading to an inability to lower the pH of the urine below 5.5, even in the face of metabolic acidosis. This results in a persistently alkaline urine, which can lead to calcium phosphate stones and bone demineralization.

Type 1 RTA is often caused by inherited genetic defects, but it can also be acquired due to various kidney diseases, drugs, or autoimmune disorders. Symptoms of type 1 RTA may include fatigue, weakness, muscle cramps, decreased appetite, and vomiting. Treatment typically involves alkali therapy to correct the acidosis and prevent complications.

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.

Dent disease is a rare X-linked recessive genetic disorder that primarily affects the function of the proximal tubules in the kidneys. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis (kidney stones), and progressive kidney dysfunction leading to chronic kidney disease or end-stage renal failure in some cases. The disorder is caused by mutations in the CLCN5 gene, which provides instructions for making a chloride channel important for maintaining the proper function of proximal tubular cells in the kidneys. Dent disease primarily affects males, while females are typically asymptomatic carriers of the disorder.

Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental ...
... or optic nerve hypoplasia Hydrophthalmos, or congenital glaucoma Iritis Isotretinoin has been associated with photophobia Optic ...
... hydrophthalmos MeSH C16.131.384.666 - microphthalmos MeSH C16.131.384.784 - retinal dysplasia MeSH C16.131.482.500 - ...
... hydrophthalmos MeSH C11.250.566 - microphthalmos MeSH C11.250.666 - retinal dysplasia MeSH C11.270.040 - albinism MeSH C11.270. ... hydrophthalmos MeSH C11.590.224 - Duane retraction syndrome MeSH C11.590.312 - Miller Fisher syndrome MeSH C11.590.400 - ...
Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental ...
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child. 1952. 83:164-184 ...
Lowe, C. U., Terrey, M. & MacLachlan, E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental ...
Hydrophthalmos (see also Buphthalmia) 743.20. 743.2. ICD9Data.com 743.21 ICD-9-CM codes are used in medical billing and coding ...
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child. 1952. 83:164-184 ...
Hydrophthalmos. *Keratoglobus, congenital, with glaucoma. *Macrocornea with glaucoma. *Macrophthalmos in congenital glaucoma ...
This graph shows the total number of publications written about "Glaucoma, Open-Angle" by people in this website by year, and whether "Glaucoma, Open-Angle" was a major or minor topic of these publications ...
It is the elongation of the ocular globe or eyeball as a result of elevated intraocular pressure at birth, i.e., congenital glau
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child. 1952. 83:164-184 ...
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child. 1952. 83:164-184 ...
A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed ...
Hydrophthalmos. *Microphthalmos. *Persistent Hyperplastic Primary Vitreous. *Retinal Dysplasia. *Lens Subluxation. *Ectopia ...
The condition was initially described in 1952 by Lowe and his colleagues as a potpourri of hydrophthalmos, mental retardation, ...
Hydrophthalmos [C16.614.438] * Hyperbilirubinemia, Neonatal [C16.614.451] * Hyperostosis, Cortical, Congenital [C16.614.465] ...
Hydrophthalmos congenital Keratoglobus, congenital newborn Megalocornea 743.3 Congenital cataract and lens anomalies Congenital ...
Hydrophthalmos * Hyperbilirubinemia, Neonatal [C16.614.451] Hyperbilirubinemia, Neonatal * Hyperostosis, Cortical, Congenital [ ...
... , a medical condition affecting the human eye - if necessary seek advice from a specialist eye doctor called an ophthalmologist. This is part of a set of pages about conditions, diseases, and disorders of the human eye and visual system.
Hydrophthalmos. *Hyperbilirubinemia, Neonatal. *Hyperostosis, Cortical, Congenital. *Ichthyosis. *Infant, Premature, Diseases. ...
Hydrophthalmos. *Hyperbilirubinemia, Neonatal. *Hyperostosis, Cortical, Congenital. *Ichthyosis. *Infant, Premature, Diseases. ...
... , a medical condition affecting the human eye. This is part of a set of pages about conditions, diseases, and disorders of the human eye and visual system.
Hydrophthalmos. *Hyperbilirubinemia, Neonatal. *Hyperostosis, Cortical, Congenital. *Ichthyosis. *Infant, Premature, Diseases. ...
Hydrophthalmos. *Hyperbilirubinemia, Neonatal. *Hyperostosis, Cortical, Congenital. *Ichthyosis. *Infant, Premature, Diseases. ...
Hydrophthalmos [C16.614.438] * Hyperbilirubinemia, Neonatal [C16.614.451] * Hyperostosis, Cortical, Congenital [C16.614.465] ...
... hydrophoby hydrophoid hydrophone Hydrophora hydrophoran hydrophore hydrophoria hydrophorous hydrophthalmia hydrophthalmos ...
  • The condition was initially described in 1952 by Lowe and his colleagues as a potpourri of hydrophthalmos, mental retardation, organic aciduria, and decreased renal ammonia production. (bhaskarhealth.com)