Search

GAPO syndrome (growth retardation, alopecia, pseudoanodontia, optic atrophy) is a rare, autosomal recessive connective tissue disorder with only 60 reported cases. Ophthalmic manifestations vary and include hypertelorism, optic atrophy, and glaucoma. There have been three reported cases of GAPO syndrome with craniosynostosis. We describe two new siblings with GAPO syndrome and craniosynostosis and the first histopathologic analysis of Tenon's capsule and extraocular muscle in this syndrome. Both siblings presented with papilledema and V-pattern strabismus in addition to the alopecia, brittle eyelashes, growth retardation, and pseudoanodontia that characterize GAPO syndrome. Cranial vault expansion, though successful, was complicated by lack of distinct periosteal layers, thin dural adherence to bone, and extensive venous bleeding. Tenons encountered during strabismus surgery was inelastic and highly vascular. Histopathological analysis revealed hyalinization of Tenon's and a thickened, homogenized, amorphous appearance, similar to the extracellular matrix abnormalities described in skin and other organs Histopathological analysis of extraocular muscle was, in contrast, unremarkable. GAPO impacts the extracellular matrix of Tenon's resulting in inelasticity and hypervascularity. Ophthalmologists should be mindful of these aberrant characteristics when planning surgery in this population. [ABSTRACT FROM AUTHOR]

While the association between sleep‐related breathing disorders such as snoring and hypertension has been well established, it still remains unclear whether the association differs by age and gender. Therefore, in this 14‐year follow‐up study, we examined the independent association between self‐reported snoring and the incidence of hypertension by gender and age groups in a large cohort of Korean adults. A total of 4,954 adults, aged 40–69 years, free of hypertension at baseline were enrolled. Participants were divided into three groups based on a self‐reported snoring frequency: never; occasional (snoring <4 nights per week); and habitual snorer (snoring ≥4 nights). At baseline and biennial follow‐up visits, blood pressure was measured by trained examiners. Incident hypertension was defined as the first occurrence at any follow‐up examination where the participants had blood pressure ≥140/90 mmHg or were being treated with antihypertensive medication. After adjusting for known cardiovascular risk factors, only in men aged ≤45 years was habitual snoring significantly associated with a 1.5 times higher risk for incident hypertension than never snoring. In this age group, habitual snoring was significantly associated with increased risk for the development of hypertension, regardless of the presence of excessive daytime sleepiness. In women, snoring was not significantly associated with hypertension incidence in any age group. The present study suggests that young male snorers may be at high risk for the future development of hypertension, which has important clinical implications for early detection and treatment of snoring to reduce the burden of cardiovascular disease. [ABSTRACT FROM AUTHOR]