During a 7-day HDT bedrest experiment in healthy women, eyes seemed to compensate the moderate rise of IOP described between a sitting and a supine position, and exhibited a slight and progressive average decrease of 1.3 mm Hg. These physiological modifications could be related to an ocular dehydration or to systemic cardiovascular and hormonal variations during bedrest.
To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene.Methods: We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15 known cataract loci. Exons 1, 2, and 3 and flanking intronic sequences of the CRYAA gene were amplified and analyzed using direct sequencing.Results: All of the affected individuals had nuclear cataract and iris coloboma. Genetic analysis revealed the previously described Arg116Cys mutation in the CRYAA gene in the heterozygous state in all of the affected members of the family but not in unaffected individuals.
Conclusion:To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.Clinical Relevance: This study indicates that an Arg116Cys mutation in the CRYAA gene could be associated with an unusual phenotype in affected individuals. In this family, the clinical observation of iris coloboma allows for the possibility of identifying individuals carrying the mutation. Iris coloboma is particularly important in terms of perinatal diagnosis because its detection in the newborn requires a careful and regular examination of the lens.
Ultrasound ciliary plasty (UCP) is a novel, non-invasive procedure for the control of intraocular pressure (IOP) in patients with openangle glaucoma (OAG), and is particularly useful for refractory glaucoma after failed filtering surgery and patients with elevated risk of surgical failure due to high risk of conjunctival bleb scarring. A meta-analysis was performed of seven clinical trials, involving 251 patients, which evaluated the efficacy and safety of the procedure. The procedure was effective in reducing mean IOP across all indications and IOP reductions were similar in patients with refractory and non-refractory glaucoma. Safety and tolerability were good, with conjunctival hyperaemia being the most common side effect. Serious complications were rare. Procedures using the second-generation therapy probe were associated with superior reproducibility of IOP reduction compared with the first-generation probe. In summary, the procedure is a promising and effective treatment option for patients with refractory and non-refractory OAG.
The results suggest that Rimexolone 1% ophthalmic solution is an effective and safe steroidal anti-inflammatory agent for topical use following cataract surgery and intra-ocular lens implantation.
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