Presentation
The presentation of microcornea associated with axial myopia by means of modern examination techniques. Clinical investigations. The horizontal diameter of the cornea was 8.00 mm on both sides. [ncbi.nlm.nih.gov]
The "fan-shaped cataract" observed in the present family has not been reported before. [pure.hud.ac.uk]
CONCLUSIONS: We present a further report of the MRCS syndrome and provide evidence in support of genetic heterogeneity in this phenotype. {\circledC} 2006 by Elsevier Inc. [research.manchester.ac.uk]
Respiratoric
- Stridor
Preauricular pit Severe vision loss Inspiratory stridor Posterior polar cataract Cortical cataract Lenticonus Nyctalopia Posterior subcapsular cataract Depressivity Anterior segment developmental abnormality Aculeiform cataract Photophobia Iris atrophy [mendelian.co]
Neonatal respiratory distress and laryngeal stridor may be present. The intellectual disability can be severe. Corpus callosum aplasia and hypoplasia have been reported. Microcephaly and brachycephaly with delayed suture closure are features. [disorders.eyes.arizona.edu]
- Inspiratory Stridor
Preauricular pit Severe vision loss Inspiratory stridor Posterior polar cataract Cortical cataract Lenticonus Nyctalopia Posterior subcapsular cataract Depressivity Anterior segment developmental abnormality Aculeiform cataract Photophobia Iris atrophy [mendelian.co]
Eyes
- Progressive Loss of Vision
It was gradual, painless, progressive loss of vision, associated with no other ocular complaints. There was no history of redness, watering, intake of any drug or trauma to the eye. There was no history of wearing glasses. [jemds.com]
Psychiatrical
- Psychiatric Manifestation
Two female members of the pedigree, who could not be examined, were said to have eye anomalies and possibly represented manifesting heterozygotes. [findzebra.com]
Treatment
Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]
guidelines, discoveries in your fields of interest; be notified You are informed about innovative treatments, techniques and innovations in medicine This video is limited to doctors and other health professionals. [medtube.net]
Prognosis
A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis. [findzebra.com]
Prognosis The prognosis for vision depended on the phenotype of the better eye Microphthalmos with cyst has the worst prognosis Coloboma with microcornea and microphthalmos a poor prognosis Coloboma with only microcornea has an intermediate prognosis [slideshare.net]
Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good. [checkorphan.org]
Prognosis Visual acuity after uncomplicated cataract extraction is relatively good. Last updated: 10/25/2007 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]
Etiology
Etiology There is marked genetic heterogeneity. Mutations have been described in several crystallin genes ( CRYAA, CRYBB1, CRYGD ), and in the gap junction protein alpha 8 gene ( GJA8 ). [rarediseases.info.nih.gov]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]
Epidemiology To date, more than 15 families showing microcornea-cataract syndrome have been described. [rarediseases.info.nih.gov]
Pathophysiology
Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception. [slideshare.net]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]
Currently, Cataract Microcornea Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]
Prevention - Cataract microcornea syndrome Not supplied. Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good. [checkorphan.org]