Congenital anomalies of lens shape

Taiwan Journal of Ophthalmology · 4 authors, 3 centres

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TL;DR

The review highlights the importance of genetic testing for genotype-phenotype correlation and a multidisciplinary approach for visual rehabilitation.

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The review highlights the importance of genetic testing for genotype-phenotype correlation and a multidisciplinary approach for visual rehabilitation. Limitations include the exclusion of very small case reports and reliance on existing literature without new data generation.

STUDY TYPE

narrative_review

SPECIALTY

ophthalmology

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10798395

Congenital anomalies of lens shape

Taiwan Journal of Ophthalmology

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ABSTRACT

Abstract The crystalline lens is an important structure in the eye that starts to develop as early as the 22 nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions. Keywords: Crystalline lens, lens colobomas, lenticonus, microspherophakia, PAX 6, collagen IV

CITATION EXPORT

Manjushree Bhate, Divya Motwani, Somasheila I Murthy et al.. Congenital anomalies of lens shape. Taiwan Journal of Ophthalmology. (2023). https://doi.org/10.4103/tjo.TJO-D-23-00076

AUTHORS

4 · 3 CENTRES

Manjushree Bhate, Divya Motwani, Somasheila I Murthy, Merle Fernandes

1 Jasti V Ramanamma Children’s Eye Care Centre, L.V. Prasad Eye Institute, Hyderabad, Telangana, India
2 Cornea Service, The Shantilal Shanghvi Cornea Institute, LV Prasad Eye Institute Hyderabad, India, The Shantilal Shanghvi Eye Institute, Mumbai, Maharashtra, India
3 Cornea Service, The Shantilal Shanghvi Cornea Institute, LV Prasad Eye Institute, Hyderabad, Telangana, India