True lens coloboma is a rare developmental disorder usually caused by missing lens zonules in the equatorial area of the lens. Bilateral cases are rare. We report bilateral superonasal lens colobomas in two brothers whose parents are first cousins.
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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Nat Commun
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Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes.
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Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.
Retinoic acid receptor beta () is a transcriptional regulator crucial for coordinating retinoic acid- (RA-) mediated morphogenic movements, cell growth, and differentiation during eye development. Loss- or gain-of-function coding variants have been associated with microphthalmia, coloboma, and anterior segment defects. We identified a variant c.
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Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, United Kingdom.
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Posterior lenticonus is a rare congenital anomaly of the crystalline lens characterized by the conical herniation of the posterior lenticular surface with or without cortex herniation into the anterior vitreous. It is usually unilateral and axial; bilateral cases are usually familial and have syndromic associations. The irregular lenticular surface produces high myopia and irregular astigmatism producing optical distortion and hence deprivation amblyopia.
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Article Synopsis
- * This study investigates the effectiveness of two different drainage implants (digel and xenocollagen) used during combined cataract and glaucoma surgery on eye pressure and visual function.
- * Over 24 months, both implant groups achieved similar intraocular pressure results, with Group 1 showing an average of 18.8 mm Hg and Group 2 at 18.5 mm Hg post-surgery.
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