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. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.

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. Surgical procedures were performed at 4 tertiary Aravind eye hospitals in Tamil Nadu, India, from December 2, 2010, through March 26, 2012. Nine hundred thirty patients with PEX and 476 non-PEX controls underwent detailed ocular examinations, including specific ocular features reflecting PEX. Patients also underwent evaluation for multiple systemic potential cardiovascular diseases and their risk factors. The data collection for this analysis on systemic vascular diseases started on December 2, 2010, and ended on April 30, 2014. This study analysis was specified in the study protocol. MAIN OUTCOMES AND MEASURES: Five cardiovascular outcomes compared between patients with and without PEX included blood glucose, cholesterol, and homocysteine levels; blood pressure; and cardiac morbidity (defined by electrocardiographic [ECG] abnormalities). RESULTS: The study analysis included 930 patients in the PEX group and 476 in the non-PEX group. The mean (SD) ages of patients in the PEX and non-PEX groups were 64.8 (6.8) and 59.9 (7.3) years (P < .001), respectively. More patients in the PEX group were men (470 [50.5%] vs 460 women [49.5%]) than in the non-PEX group (201 [42.2%] vs 275 women [57.8%]; P < .001). In multivariable analyses adjusting for age and sex, higher systolic blood pressure values were noted for the PEX group (difference [Δ], 4.0 mm Hg; 95% CI, 1.7-6.2 mm Hg; P = .001). Also, patients in the PEX group were more likely to demonstrate an ECG abnormality than in the non-PEX group (odds ratio, 1.64; 95% CI, 1.04-2.60; P = .03). Pseudoexfoliation was not observed to be associated with a higher level of blood glucose (Δ, 6.2 mg/dL; 95% CI, -2.0 to 14.3 mg/dL; P = .14), serum cholesterol (Δ, -0.6 mg/dL; 95% CI, -5.1 to 4.0 mg/dL; P = .81), or serum homocysteine level (Δ, 0.004 mg/L; 95% CI, -0.12 to 0.14; P = .96). CONCLUSIONS AND RELEVANCE: Of the 5 cardiovascular outcomes examined in South Indian patients requiring cataract surgery, PEX was associated with higher systolic blood pressure and more frequent ECG abnormalities but not with higher blood glucose, serum cholesterol, or serum homocysteine levels. Patients with PEX are more likely to require attention to blood pressure and cardiac morbidity.