PURPOSE OF REVIEW: Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either in isolation or as part of a syndrome of ocular or systemic anomalies. This article reviews recent advances made in understanding the molecular genetic basis of isolated, nonsyndromic inherited cataract. RECENT FINDINGS: New disease-causing mutations continue to be identified and now encompass genes encoding a wide variety of different lens proteins. More detailed investigations of the functional consequences of each mutation are being reported and suggest that lens opacification results not only from precipitation and amyloid-like accumulation of proteins essential for lens transparency but also from interference with their secondary functions. SUMMARY: Improved functional characterization of mutations causing childhood cataract will improve understanding of lens development and physiology but will also have implications for the more common age-related cataract. This too has a significant genetic component to its etiology, and genes causing monogenic forms of childhood inherited cataract represent excellent candidate genes for age-related cataract. The identification of the genes conferring increased risk of developing age-related cataract will bring closer the development of a medical treatment to delay the onset of lens opacification and need for surgery.
PURPOSE OF REVIEW: Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either in isolation or as part of a syndrome of ocular or systemic anomalies. This article reviews recent advances made in understanding the molecular genetic basis of isolated, nonsyndromic inherited cataract. RECENT FINDINGS: New disease-causing mutations continue to be identified and now encompass genes encoding a wide variety of different lens proteins. More detailed investigations of the functional consequences of each mutation are being reported and suggest that lens opacification results not only from precipitation and amyloid-like accumulation of proteins essential for lens transparency but also from interference with their secondary functions. SUMMARY: Improved functional characterization of mutations causing childhood cataract will improve understanding of lens development and physiology but will also have implications for the more common age-related cataract. This too has a significant genetic component to its etiology, and genes causing monogenic forms of childhood inherited cataract represent excellent candidate genes for age-related cataract. The identification of the genes conferring increased risk of developing age-related cataract will bring closer the development of a medical treatment to delay the onset of lens opacification and need for surgery.
Authors: Ke Liu; Lei Lyu; David Chin; Junyuan Gao; Xiurong Sun; Fu Shang; Andrea Caceres; Min-Lee Chang; Sheldon Rowan; Junmin Peng; Richard Mathias; Hideko Kasahara; Shuhong Jiang; Allen Taylor Journal: Proc Natl Acad Sci U S A Date: 2015-01-12 Impact factor: 11.205
Authors: Hande Taylan Sekeroglu; Beren Karaosmanoglu; Ekim Z Taskiran; Pelin O Simsek Kiper; Mehmet Alikasifoglu; Koray Boduroglu; Turgay Coskun; Gulen Eda Utine Journal: Mol Syndromol Date: 2020-09-09
Authors: Lei Lyu; Elizabeth A Whitcomb; Shuhong Jiang; Min-Lee Chang; Yumei Gu; Melinda K Duncan; Ales Cvekl; Wei-Lin Wang; Saima Limi; Lixing W Reneker; Fu Shang; Linfang Du; Allen Taylor Journal: FASEB J Date: 2015-11-20 Impact factor: 5.191