A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded.

Association of Pseudoexfoliation With Systemic Vascular Diseases in a South Indian Population.

Importance: Ocular pseudoexfoliation (PEX) syndrome may be associated with systemic vascular diseases, which might suggest a broader health significance of PEX, although previous reports are conflicting.

Objective: To determine whether prespecified vascular risk factors and cardiac abnormalities are more common among patients with PEX than among control individuals without PEX.

Design, Setting, And Participants: This cross-sectional analysis of patients recruited into the Aravind Pseudoexfoliation study included South Indian patients older than 40 years with or without PEX who required cataract surgery.

Primary Sjögren's syndrome as a systemic disease: a study of participants enrolled in an international Sjögren's syndrome registry.

Objective: To study the prevalence of extraglandular manifestations in primary Sjögren's syndrome (SS) among participants enrolled in the Sjögren's International Collaborative Clinical Alliance (SICCA) Registry.

Methods: A total of 1,927 participants in the SICCA registry were studied, including 886 participants who met the 2002 American-European Consensus Group (AECG) criteria for primary SS, 830 "intermediate" cases who had some objective findings of primary SS but did not meet AECG criteria, and 211 control individuals. We studied the prevalence of immunologic and hematologic laboratory abnormalities, specific rheumatologic examination findings, and physician-confirmed thyroid, liver, and kidney disease, as well as lymphoma among SICCA participants.