Marfan's syndrome (MFS) is an autosomal dominant connective tissue disorder with defect in the fibrillin-1 gene. The most common ocular manifestation is subluxated lens in the superotemporal direction, accounting for 50%-85% of total cases. The association of lens coloboma with MFS has been described in literature, but the coexistence of lens coloboma with ectopia lentis is a rare feature. Here, we describe three cases of MFS including a case of bilateral lens coloboma with ectopia lentis: case 1 - a 39-year-old male with inferotemporal lens subluxation in the right eye and superotemporal lens subluxation in the left eye with open-angle glaucoma and high myopia, case 2 - a 15-year-old child with bilateral superonasal lens subluxation with lens coloboma, and case 3 - a 56-year-old female with bilateral lens coloboma. Case 1 and case 2 had clear lenses with good refractive correction; hence, they were optically rehabilitated with contact lenses, whereas case 3 was advised for cataract surgery. It is important to distinguish the lens coloboma from a more common entity, ectopia lentis as former usually remains stable while the latter might need a surgical intervention.
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http://dx.doi.org/10.4103/ojo.ojo_108_22 | DOI Listing |
Nat Commun
October 2024
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.
View Article and Find Full Text PDFHum Mutat
October 2024
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.
View Article and Find Full Text PDFProg Retin Eye Res
November 2024
Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, United Kingdom.
Purpose: The Stickler syndromes are a group of connective tissue disorders characterised by congenital myopia, giant retinal tear and retinal detachment, cleft palate, hearing loss and premature arthropathy. Patients with Stickler syndrome are also susceptible to abnormalities of the crystalline lens. Since neither type II or type XI collagen (those typically affected in the vast majority of Stickler patients) are highly expressed in the lens, this observational cohort study explores potential alternative mechanisms to explain why patients frequently exhibit such unusual but characteristic types of cataract.
View Article and Find Full Text PDFJ AAPOS
October 2024
Department of Pediatric Ophthalmology and Strabismus, Sankara Nethralaya, Chennai, Tamil Nadu, India.
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.
View Article and Find Full Text PDFVestn Oftalmol
September 2024
Penza State University, Penza, Russia.
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