When phones ring in silence: intolerance of uncertainty amplifies the association between being phubbed and online vigilance in face-to-face interaction.
Authors: Meng Z, Qu M, Qi S
Journal: BMC psychology
mental health
psychology
open access
Abstract
Congenital aniridia is a rare genetic disorder arising principally from variants in the gene that orchestrates eye development [, ]. The disease is characterized by abnormal development of diverse ocular and periocular tissues including the Meibomian glands, tear film, cornea, iris, trabecular meshwork, lens, retina and optic nerve []. Affected individuals can present with a range of symptoms including reduced visual acuity, pain, photophobia, and failure of the ocular surface (corneal limbal stem cell failure). In most cases, congenital aniridia leads to a progressive worsening of vision with age, although some genotype-phenotype variability exists [, ]. Congenital aniridia arises sporadically in about one-third of cases, with the remainder having an autosomal dominant inheritance pattern []. Perturbed development of the eye leads to ocular pathologies such as nystagmus, photophobia, ptosis, dry eye disease, keratopathy, iris hypoplasia, glaucoma, cataract, and foveal hypoplasia. Besides ocular effects, aniridia can present as part of a syndrome such as WAGR with more severe ocular symptoms [, ], often occurring together with accompanying pathologies in other organs such as the kidneys, pancreas, and brain [, , ]. Although the structural and clinical spectrum of congenital aniridia is reported widely in the literature [–, ], the effect of aniridia on visual function for daily activities and its impact on quality of life is not known. Although some medical interventions to improve vision are available and helpful (such as use of scleral lenses, autologous serum or tear lubricant eye drops, and surgical procedures to reconstruct or restore the ocular surface), often these do not provide a sustained improvement and are burdensome for patients. There is currently no treatment addressing the genetic or molecular basis of the ocular pathology.