Presentation
Presented here are hereditary cases of congenital microcoria associated with goniodysgenesis. The proband was a 64 year-old woman with poor development of collarettes and crypts of the iris. [ncbi.nlm.nih.gov]
Either of these syndromes may present with microcoria, but neither presents with the associated nephrotic syndrome seen in Pierson syndrome. [healio.com]
This poster will present the presumed pathogenesis of congenital miosis including the appropriate differential diagnosis. [aaopt.org]
Respiratoric
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Rhinorrhea
TopCluster headache Ipsilateral miosis, tearing, conjunctival injection, and ptosis commonly accompany a severe cluster headache, along with facial flushing and sweating, bradycardia, restlessness, and nasal stuffiness or rhinorrhea. [checkorphan.org]
Eyes
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Foreign Body Sensation
TopCorneal foreign body Miosis in the affected eye occurs with pain, a foreign-body sensation, slight vision loss, conjunctival injection, photophobia, and profuse tearing. [checkorphan.org]
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Enophthalmos
Related ipsilateral findings include a sluggish pupillary reflex, slight enophthalmos, moderate ptosis, facial anhidrosis, transient conjunctival injection, and a vascular headache. [checkorphan.org]
Skin
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Anhidrosis
Related ipsilateral findings include a sluggish pupillary reflex, slight enophthalmos, moderate ptosis, facial anhidrosis, transient conjunctival injection, and a vascular headache. [checkorphan.org]
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Ulcer
TopCorneal ulcer Miosis in the affected eye appears with moderate pain, visual blurring and possibly some vision loss, and diffuse conjunctival injection. [checkorphan.org]
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Flushing
TopCluster headache Ipsilateral miosis, tearing, conjunctival injection, and ptosis commonly accompany a severe cluster headache, along with facial flushing and sweating, bradycardia, restlessness, and nasal stuffiness or rhinorrhea. [checkorphan.org]
Neurologic
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Babinski Sign
TopPontine hemorrhage Bilateral miosis is characteristic, along with a rapid onset of coma, total paralysis, decerebrate posture, an absent doll’s eye sign, and a positive Babinski’s sign. [checkorphan.org]
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Paresthesia
With diabetic neuropathy, related effects include paresthesia and other sensory disturbances, extremity pain, orthostatic hypotension, impotence, incontinence, and leg muscle weakness and atrophy. [checkorphan.org]
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Slurred Speech
Other findings include visual blurring, slurred speech or possibly aphasia, loss of muscle tone, memory loss, vertigo, and a headache. [checkorphan.org]
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Decerebrate Posturing
TopPontine hemorrhage Bilateral miosis is characteristic, along with a rapid onset of coma, total paralysis, decerebrate posture, an absent doll’s eye sign, and a positive Babinski’s sign. [checkorphan.org]
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Aphasia
Other findings include visual blurring, slurred speech or possibly aphasia, loss of muscle tone, memory loss, vertigo, and a headache. [checkorphan.org]
Workup
The finding, which… Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. [centogene.com]
Treatment
Treatment Treatment Options: Glaucoma often requires surgery for control of intraocular pressure. [disorders.eyes.arizona.edu]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Prognosis
The functional prognosis for microcoria appears to be extremely poor because of refractive disorders and, particularly, a link between microcoria and glaucoma that is difficult to explain. [ncbi.nlm.nih.gov]
Diagnosis and Prognosis: This disorder only causes ocular problems and affected individuals can expect to live normal lives with good eye care. [disorders.eyes.arizona.edu]
Diagnosis - Microcoria- congenital These home medical tests may be relevant to Microcoria, congenital: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis - Microcoria- congenital Not supplied. [checkorphan.org]
Prognosis: This disorder carries a poor prognosis for life although a few have lived to adulthood. Many infants die in the first decade of life. The visual prognosis is likewise poor. [wohproject.org]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
[…] with increased venous pressure Cavernous or dural A-V shunt Orbital disease Secondary to intraocular infection Acute recurrent toxoplasmosis Acute herpetic iritis Endogenous endophthalmitis Maternal rubella infection Glaucoma secondary to undetermined etiology [thehealthscience.com]
Various surgical techniques have been devised to avoid intraoperative injury to the iris. 25, 26, 27, 28, 29 Iridocorneal Endothelial Syndrome Etiology Iridocorneal endothelial syndrome (ICE) denotes a spectrum of ocular disorders that includes progressive [entokey.com]
[…] increased venous pressure Cavernous or dural A-V shunt Orbital disease Glaucoma secondary to intraocular infection Acute recurrent toxoplasmosis Acute herpetic iritis Endogenous endophthalmitis Maternal rubella infection Glaucoma secondary to undetermined etiology [emedicine.medscape.com]
Epidemiology
In early 90’s, epidemiological studies were performed, providing a clinical and genetic classification of retinal dystrophies in France and allowing the constitution of homogeneous cohorts of affected families. [institutimagine.org]
Bangstad Syndrome Congenital disorder, Cell membrane, Intrauterine growth restriction, Microcephaly Biology Dic Press (2012-01-05) - ISBN-13: 978-620-0-24629-5 39.00 3,121.59 Cystic Eyeball Human eye, Congenital disorder, In utero, Benignity, Incidence (epidemiology [morebooks.de]
In studies of consanguineous populations, Khan et al concluded that mutation in CYP1B1 rather than mutation in MYOC can sometimes underlie familial primary glaucoma. [1, 2] Epidemiology Frequency United StatesJuvenile glaucoma is rare, with an estimated [thehealthscience.com]
In studies of consanguineous populations, Khan et al concluded that mutation in CYP1B1 rather than mutation in MYOC can sometimes underlie familial primary juvenile glaucoma. [3, 4, 5] Epidemiology Frequency United States Juvenile glaucoma has an estimated [emedicine.medscape.com]
Pathophysiology
Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.ro]
Even though there are little experience in primary lesions of the iris except from tumors and cysts, the data reported were consistent with the disease pathophysiology, and the ultrasound biomicroscopy could be a great option when the affected individual [iovs.arvojournals.org]
[…] infection Glaucoma secondary to undetermined etiology Iridocorneal endothelial syndrome (ICE) To get free no obligation Quote For Medulloepithelioma, Childhood Treatment in India Click Here Phone Numbers Reach Us - India & International : 91 9371770341 Pathophysiology [indiacancersurgerysite.com]
Prevention
Prevention - Microcoria- congenital Not supplied. [checkorphan.org]
An extracapsular extraction is the most suitable operation for a highly myopic eye; in this case a large supe- rior iridectomy was necessary to prevent an immediate post- operative occlusion of the pupil and to give the surgeon a good view of the fundus [documents.tips]
Medication The goals of pharmacotherapy are to reduce morbidity and to prevent complications. [indiacancersurgerysite.com]
These patients require prompt diagnosis and hormone replacement therapy to prevent a potentially life threatening and/or developmental delay due to hypoglycaemia, hypocortisolism and hypothyroidism and to ensure normal growth. [nature.com]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]