Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subs...
1MB Sizes 1 Downloads 0 Views

Recommend Documents

[Hereditary ectopia lentis].
If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. Also other connective tissue disorders convey an elevated risk for ectopia lentis. Isol

Images in clin medicine: Ectopia lentis.
A 31-year-old woman with Marfan's syndrome presented with amblyopia and a history of gradual bilateral vision loss over the previous 3 to 4 months. She had also had mild sensorineural hearing loss within the previous 2 weeks.

Trauma-Induced Bilateral Ectopia Lentis Diagnosed with Point-of-Care Ultrasound.
Ocular trauma and acute loss of vision are high-yield patient presentations that may benefit from the use of bedside ultrasound to aid in the diagnosis of a variety of vision-threatening problems.

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
To identify genetic defects in a Chinese family with ectopia lentis (EL) and varicose great saphenous vein (GSV) and to analyze the correlations between phenotype and genotype.

Molecular pathogenesis and management strategies of ectopia lentis.
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming a