Here I present: “Retinopathy of Prematurity”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=H35.1 早產兒視網膜病變. (ROP).
PRELUDE.
“Michael Hingson was born in 1950, and he was fifty-nine days early. Back then, standard medical procedure was to put a premature baby in a sealed incubator and pump in pure oxygen until the baby’s lungs matured. The practice had been in place for years and resulted in an epidemic of blindness in preterm babies born before thirty-two weeks gestation. The eye disease is called retinopathy of prematurity (ROP).
Michael Hingson guide-dog Roselle guided him down 78 floors in the 9-11 terrorist attack in 2001 New York City. Both Michael Hingson and guide-dog Roselle escaped safely from the World Trade Center in 2001.
INTRODUCTION.
Retinopathy of prematurity (ROP) is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used because of the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels and may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birthweight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.
There is evidence retinopathy of prematurity (ROP) is caused by heterozygous mutation in the frizzled-4 gene (FZD4) on cytogenetic location 11q14.2 and genomic coordinates 11:86,945,679-86,955,395. The screenshot of the FZD4 gene 9,717 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FZD4 in the 11q14.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 11:86,244,753 | EED | Embryonic ectoderm development protein |
| 11:86,302,240 | HIKESHI | Hikeshi |
| 11:86,434,930 | ME3 | Malic enzyme 3 |
| 11:86,791,071 | PRSS23 | Protease, serine, 23 |
| 11:86,945,679 | FZD4 | Frizzled, Drosophila, homolog of, 4 |
| 11:87,037,934 | TMEM135 | Transmembrane protein 135 |
| 11:87,803,715 | RAB38 | Ras-family, member RAB38 |
| 11:88,293,592 | CTSC | Cathepsin C |
| 11:88,504,642 | GRM5 | Glutamate receptor, metabotropic, 5 |
| 11:89,177,875 | TYR | Tyrosinase |
