Rare syndrome that causes lens subluxation

Posted by - Posted on 05/06/2015 01:07:26 Cornea and External diseases Lens and cataract

20150421_143627_HDR.jpg 20150421_143700_HDR.jpg

43 year old presents to the clinic with a history cataract surgery when she was little. Look at her physical stature and take a guess as to the systemic diagnosis and the ocular diagnosis. Hint: look at the left eye in the close up shot closely

This patient has the classic Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome).This is a genetic disorder (autosomal recessive or autosomal dominant inheritance) by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities.The eye manifestations typically include unusually small, round lenses of the eyes (spherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. This particular patient is aphakic in both eyes with failed corneal transplant in the right eye

Leave a Comment: