Here I present: “Cataracts”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
1. A cataract is a cloudy area in the lens the eye that leads to a decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide.
2. Multiple types of cataracts (CTRCT1) are caused by heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on cytogenetic location 1q21.2 and genomic coordinates 1:147,902,795-147,914,486 . The screenshot of the (GJA8) gene is shown BELOW of the DNA length of 11,692 bp (base pairs).
