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Expression profiling of patients with extreme corneal thinning and fragility

ABSTRACT: Extreme corneal fragility and thinning, with a high risk of catastrophic corneal rupture secondary to minimal trauma, is the major feature of brittle cornea syndrome (BCS). Expression profiling was performed with microarrays on fibroblasts from two individuals with BCS and two age and sex matched controls.

ORGANISM(S): Homo sapiens

DISEASE(S): Control

SUBMITTER: Leo Zeef

PROVIDER: E-MEXP-3077 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright Emma M M EMM Spencer Helen L HL Daly Sarah B SB Manson Forbes D C FDC Zeef Leo A H LAH Urquhart Jill J Zoppi Nicoletta N Bonshek Richard R Tosounidis Ioannis I Mohan Meyyammai M Madden Colm C Dodds Annabel A Chandler Kate E KE Banka Siddharth S Au Leon L Clayton-Smith Jill J Khan Naz N Biesecker Leslie G LG Wilson Meredith M Rohrbach Marianne M Colombi Marina M Giunta Cecilia C Black Graeme C M GCM

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]

PMID: 21664999

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