Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a case of Rubinstein-Taybi syndrome suspected in association with goniodysgenetic glaucoma, and studied using light and electron microscopy the anterior chamber angle tissues obtained surgically by trabeculectomy. The patient was 31-year old male, who had a systemic appearance of Rubinstein-Taybi syndrome with dwarfism, mental retardation, antimongoloid slant, flat-broad based thumbs, low set ears, high arched plate except for whorl of dermatographism. In addition to these malformations, goniodysgenetic glaucoma was also present which is characterized by underdevelopment of the angle recess and invisible ciliary body band in gonioscopic examination. The histopathological studies of the specimens revealed the presence of a compact tissue filled with a large amount of collagen fibers with few cells in the juxta-canalicular tissue of Schlemm's canal. There were 3 to 4 layers of trabecular sheets of corneoscleral meshwork at the anterior chamber side of the compact tissue. We conclude that the presence of the compact tissue under Schlemm's canal represents goniodysgenesis, underdevelopment of the trabecular meshwork, which is the primary cause of the glaucoma in this case.
 ...
PMID:[A case of Rubinstein-Taybi syndrome suspected with goniodysgenetic glaucoma]. 222 May 8