Congenital anomalies of lens shape

The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd 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 assoc...

Full description

Bibliographic Details
Main Authors: Manjushree Bhate, Divya Motwani, Somasheila I Murthy, Merle Fernandes
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Taiwan Journal of Ophthalmology
Subjects:
Online Access:http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=479;epage=488;aulast=Bhate
_version_ 1797226164366868480
author Manjushree Bhate
Divya Motwani
Somasheila I Murthy
Merle Fernandes
author_facet Manjushree Bhate
Divya Motwani
Somasheila I Murthy
Merle Fernandes
author_sort Manjushree Bhate
collection DOAJ
description The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd 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.
first_indexed 2024-04-24T14:20:33Z
format Article
id doaj.art-816d235759bc4eda82f6ba798e815d2b
institution Directory Open Access Journal
issn 2211-5056
2211-5072
language English
last_indexed 2024-04-24T14:20:33Z
publishDate 2023-01-01
publisher Wolters Kluwer Medknow Publications
record_format Article
series Taiwan Journal of Ophthalmology
spelling doaj.art-816d235759bc4eda82f6ba798e815d2b2024-04-03T06:45:05ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722023-01-0113447948810.4103/tjo.TJO-D-23-00076Congenital anomalies of lens shapeManjushree BhateDivya MotwaniSomasheila I MurthyMerle FernandesThe crystalline lens is an important structure in the eye that starts to develop as early as the 22nd 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.http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=479;epage=488;aulast=Bhatecrystalline lenslens colobomaslenticonusmicrospherophakiapax 6collagen iv
spellingShingle Manjushree Bhate
Divya Motwani
Somasheila I Murthy
Merle Fernandes
Congenital anomalies of lens shape
Taiwan Journal of Ophthalmology
crystalline lens
lens colobomas
lenticonus
microspherophakia
pax 6
collagen iv
title Congenital anomalies of lens shape
title_full Congenital anomalies of lens shape
title_fullStr Congenital anomalies of lens shape
title_full_unstemmed Congenital anomalies of lens shape
title_short Congenital anomalies of lens shape
title_sort congenital anomalies of lens shape
topic crystalline lens
lens colobomas
lenticonus
microspherophakia
pax 6
collagen iv
url http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=479;epage=488;aulast=Bhate
work_keys_str_mv AT manjushreebhate congenitalanomaliesoflensshape
AT divyamotwani congenitalanomaliesoflensshape
AT somasheilaimurthy congenitalanomaliesoflensshape
AT merlefernandes congenitalanomaliesoflensshape