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]

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]

The "fan-shaped cataract" observed in the present family has not been reported before. [pure.hud.ac.uk]

Case presentation: A 28-year-old woman presented with bilateral microcornea and posterior polar cataract. Her uncorrected (UDVA) and corrected (CDVA) distance visual acuities were 20/100, 20/160 and 20/80, 20/80, respectively. [smj.si.mahidol.ac.th]

• Juvenile Cataract

  IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 722457005 | Juvenile cataract, microcornea, renal glucosuria syndrome | 6011000124106~MAPADVICE~IF JUVENILE CATARACT, MICROCORNEA, RENAL GLUCOSURIA SYNDROME CHOOSE E74.818 | MAP OF SOURCE CONCEPT IS CONTEXT [bioportal.bioontology.org]

  Cataract Juvenile with micro cornea and glucosuria is a rare cataract disorder distinguished by the association of juvenile cataracts, small corneas and excessive glucose in the urine. [sehat.com]

  Schlüsselwörter Syndrom - juvenil - Katarakt - Mikrokornea - renale Glukosurie Key words syndrome - juvenile - cataract - microcornea - renal glucosuria Literatur 1 Berman E R. Biochemistry of the eye. [thieme-connect.com]

  (DO) cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types Cataract and Congenital Ichthyosis Cataract [rgd.mcw.edu]

  Eleven members had progressive juvenile cataract. Eight members available for clinical examination had bilateral microcornea not associated with microphthalmos. In 6 of these persons renal glucosuria was demonstrated. [findzebra.com]

• Small Teeth

  teeth to partial or complete hypodontia). [medical-dictionary.thefreedictionary.com]

  Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. [ncbi.nlm.nih.gov]

• Selective Tooth Agenesis

  Tooth Agenesis, X-Linked, 1 Sengers syndrome senile cataract + Seow Najjar Syndrome Severe Congenital Neutropenia, X-Linked Singh Chhaparwal Dhanda Syndrome Sketetal Dysplasia Coarse Facies Mental Retardation Slavotinek Pike Mills Hurst Syndrome Spina [rgd.mcw.edu]

  tooth agenesis Broad alveolar ridges Narrow nasal ridge Abnormal diaphysis morphology 3-4 toe syndactyly Premature loss of primary teeth Pseudohypoparathyroidism Slow-growing hair Short middle phalanx of the 5th finger Neurogenic bladder Dry hair Abnormality [mendelian.co]

• Microdontia

  Abnormality of the eye Abnormality of the pinna Polydactyly Abnormality of the metaphysis High forehead Visual loss Syndactyly Arrhythmia Visual impairment Slender ulna Prominent nipples Broad fingertip Prominent antitragus Osteopathia striata Talipes valgus Microdontia [mendelian.co]

• Severe Short Stature

  […] palm Congestive heart failure Abnormal pyramidal sign Feeding difficulties in infancy Intellectual disability, moderate Short metacarpal Severe short stature Hypotelorism Midface retrusion Cubitus valgus Pectus carinatum Malabsorption Taurodontia Downslanted [mendelian.co]

• Pupillary Abnormality

  abnormalities H21.561 Pupillary abnormality, right eye H21.562 Pupillary abnormality, left eye H21.563 Pupillary abnormality, bilateral H21.569 Pupillary abnormality, unspecified eye H21.8 Other specified disorders of iris and ciliary... [icd10data.com]

• Suggestibility

  Using a positional candidate gene approach, the authors have evidence suggestive of linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) genetic interval. [ncbi.nlm.nih.gov]

  Interestingly, the X253R mutant fully abolished the aggregatory propensity of βB1- and βA3/βB1-crystallins at high temperatures, suggesting that X253R was an aggregation-inhibition mutation of β-crystallin homomers and heteromers in dilute solutions. [biochemj.org]

  This case report describes the biometric features of a boy with isolated microcornea (the youngest and most completely described patient to the best of our knowledge) and suggests that the condition is the same entity as relative anterior microphthalmos [meajo.org]

• Global Developmental Delay

  WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome;warbm; warburg micro syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: UMLS DOID MONDO ORPHANET [mendelian.co]

• Chorea

  The CCFDN-syndrome may additionally present with microcornea, moderate cognitive deficit, pyramidal signs, mild chorea, short stature, or hypogonadotropic hypogonadism. reported a case of supernumerary nostril with microcornea and congenital cataract [medical-dictionary.thefreedictionary.com]

  […] abnormality Intention tremor Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor Thick cerebral cortex Long eyelashes Split hand Primary amenorrhea Peripheral demyelination Motor polyneuropathy Amenorrhea Chorea [mendelian.co]

• Mydriasis

  Management Minimal mydriasis or reactive miosis should be anticipated Iris retractors / multiple sphicterotomies CCC run-off or tear can occur Recommendations for CCC Eccentric capsulorhexis Increased magnification with dye assistance Oblique illumination [slideshare.net]

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]

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]

Toggle the table of contents From Wikipedia, the free encyclopedia Microcornea, glaucoma, and absent frontal sinuses Specialty Medical genetics, Ophthalmology Causes Genetic mutation Prevention none Prognosis Good Frequency very rare, only 4 cases have [en.wikipedia.org]

Etiology Microcornea is a congenital abnormality. Overgrowth of the anterior tips of the optic cup during eye development has been proposed to result in a smaller than normal corneal size (Gupta and Kim 2010; Waheed and Azar 2005). [link.springer.com]

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]

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 In the normal eye, optic fissure closes 33 to 40 days after conception. [slideshare.net]

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]