Here I present: “Retinitis Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 色素性視網膜炎。(RP29).
INTRODUCTION.
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration. Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia, and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas (‘bone spicules‘), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients. Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole.
There is evidence retinitis pigmentosa type-29 (RP29) is a mutation encoded on cytogenetic location 4q32-q34 and genomic coordinates 4:154,600,001-182,300,000. The RP29 gene 27,700,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides RP29 in the 4q32-q34 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:154,231,742 | DCHS2 | Dachsous cadherin-related 2 |
| 4:154,535,005 | PLRG1 | Pleiotropic regulator 1 |
| 4:154,562,980 | FGB | Fibrinogen, beta polypeptide |
| 4:154,583,126 | FGA | Fibrinogen, alpha polypeptide |
| 4:154,600,001 | RP29 | Retinitis pigmentosa 29 |
| 4:154,600,001 | TRIP4q32.1q32.2 | Chromosome 4q32.1-q32.2 triple |
| 4:154,604,136 | FGG | Fibrinogen, gamma polypeptide |
| 4:154,740,838 | LRAT | Lecithin retinol acyltransferase |
| 4:154,781,272 | RBM46 | RNA-binding motif protein 46 |
| 4:155,173,723 | NPY2R | Neuropeptide Y receptor Y2 |
