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]
Juvenile glaucoma is frequently present (at least 30% require treatment) and is usually detected in the second (20%) through fourth decades of life. [disorders.eyes.arizona.edu]
Entire Body System
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Galactorrhea
[…] go·nio·dys·gen·e·sis (go″ne o dis jenґə sis) [gonio dysgenesis] defective development of the anterior segment of the eyeball … Medical dictionary List of diseases (G) — A list of diseases in the English wikipedia.DiseasesTOC G* G syndromeGaGal Gap* Galactorrhea [translate.academic.ru]
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Asymptomatic
One MYOC heterozygous mutation, c.1109 C T (P370L), in exon 3 was identified in all six patients but not in the asymptomatic family members. [ncbi.nlm.nih.gov]
Respiratoric
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Respiratory Distress
distress * Tricuspid valve anomaly * Absent iris Causes - Goniodysgenesis mental retardation short stature Not supplied. [checkorphan.org]
Musculoskeletal
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Small Hand
[…] mental retardation short stature The list of signs and symptoms mentioned in various sources for Gms syndrome includes the 16 symptoms listed below: * Short stature * Mental retardation * Small ears * Small head * Short nose * Depressed nasal bridge * Small [checkorphan.org]
Treatment
This subject needed treatment for amblyopia. [ncbi.nlm.nih.gov]
Treatment Treatment Options: Glaucoma often requires surgery for control of intraocular pressure. [disorders.eyes.arizona.edu]
All aspects of diagnosis are carefully examined, surgical indications and techniques are explained, and the role of medical treatment is evaluated. [books.google.ro]
Here, we report a case of glaucoma and its treatment combining trabeculotomy and trabeculectomy in a patient with Klinefelter syndrome. [bolingbrookeyecare.com]
Prognosis
Diagnosis - Goniodysgenesis mental retardation short stature Home medical tests related to Gms syndrome: * Mental Health: Home Testing: o Home Emotional Stress Tests Prognosis - Goniodysgenesis mental retardation short stature Not supplied. [checkorphan.org]
References Complications Complications of megalocornea may include the following: Lens subluxation Early cataracts Glaucoma (not congenital) References Prognosis The prognosis is excellent in simple megalocornea. [misc.medscape.com]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
In sporadic or hereditary microcoria, there can also be absence of the iris musculature, pointing to a possible etiologic overlap with congenital pupillary-iris-lens membrane with goniodysgenesis. 13 In the current case, the identification of profiles [healio.com]
References Pathophysiology Megalocornea is a developmental anomaly of unknown etiology. [misc.medscape.com]
Epidemiology
References Epidemiology Frequency United States No data are available. International No data are available. Mortality/Morbidity Morbidity and mortality can be secondary to the many systemic conditions found in association with megalocornea. [misc.medscape.com]
Pathophysiology
The pathophysiology involves vascular disruption to the pupillary membrane inhibiting regression of neural crest cells, which leads to the formation of pupillary-iris-lens membrane, prominent Schwalbe’s ring, goniodysgenesis, and the connection between [healio.com]
References Pathophysiology Megalocornea is a developmental anomaly of unknown etiology. [misc.medscape.com]
Prevention
Surgery may be needed to open the visual axis even when glaucoma is not present and may prevent angle closure. [ncbi.nlm.nih.gov]
Prevention - Goniodysgenesis mental retardation short stature Not supplied. [checkorphan.org]
Early diagnosis and treatment is vital to prevent complications such as amblyopia and glaucoma. From the Department of Ophthalmology, Women’s and Children’s Hospital, North Adelaide, Australia. [healio.com]
Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. [icdlist.com]