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Additional info for Basic Ophthalmology for Med. Students, Pri Care Resids
1 [3–7, 12–15]. β-Crystallins β-crystallins are the most abundant water-soluble structural proteins in the lens, making up approximately 35 % of the total protein. They are mainly expressed in lens fiber cells, with the highest level in cortical fiber cells . β-crystallins have been shown to consist of seven subunits (βB1, βB2, βB3, βA1, βA2, βA3, and βA4) that are encoded by six CRYB genes; of these, both βA1 and βA3 are encoded by the same gene called CRYAB1. 1) [16–30, 62, 63]. Mutations in β-crystallin result in diverse cataract phenotypes.
Mol Vis. 2007;13:252–7. 5. Brown NP, Bron AJ. Lens disorders: a clinical manual of cataract diagnosis. 3rd ed. Oxford: ButterworthHeinemann; 1996. p. 19–23. 6. Bours J, Födisch HJ, Hockwin O. Age-related changes in water and crystallin content of the fetal and adult human lens, demonstrated by a microsectioning technique. Ophthalmic Res. 1987;19(4):235–9. 7. Scammon RE, Hesdorffer MB. Growth in mass and volume of the human lens in postnatal life. Arch Ophthalmol. 1937;17:104–12. 8. Broekhuyse RM.
The black symbols represent the affected subjects and the white symbols indicate the healthy family members. Squares and circles indicate males and females, respectively. The proband is marked with an arrow. The pedi- gree of the family suggests an autosomal dominant pattern of inheritance. (b) Clinical features of the family. Slitlamp photographs of affected subjects demonstrate that the phenotype of the congenital cataract is membranous cataract. Opacities of these lenses gradually became denser and displaced upward with increased age, along with absorption of the lens cortex (Reproduced with permission from Chen et al.