Dataset Information
Expression profiling of patients with extreme corneal thinning and fragility
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
DISEASE(S): Control
SUBMITTER: Leo Zeef
PROVIDER: E-MEXP-3077 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
American journal of human genetics 20110601 6
Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resulting in blindness and psychosocial distress. Even when the cornea remains grossly intact, visual function could also be impaired by a high degree of myopia and keratoconus. Deafness is another common ...[more]
