Here I present: “Progressive Bifocal Chorioretinal Atrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PBCRA) 漸進性雙焦絨毛膜視網膜萎。icd10=H35.5
INTRODUCTION.
The choroidea is a part of the uvea, the vascular layer of the eye. It contains connective tissues and lies between the retina and the sclera.
Progressive bifocal chorioretinal atrophy (PBCRA) is a slowly progressive, autosomal dominant syndrome characterized by relatively large-sized atrophic hole-shaped lesions in the macular and nasal retina, myopia, low visual acuity, and nystagmus.
Progressive bifocal chorioretinal atrophy (PBCRA) is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision. Invariably, there are 2 distinct foci of atrophy, a temporal focus that is present at birth and a nasal focus that appears early in life. Retinal detachment is an additional complication of the disease.
There is evidence that progressive bifocal chorioretinal atrophy (PBCRA) is caused by heterozygous mutation in a DNase-I (DNASE1) hypersensitivity site on cytogenetic location 6q16.2 and genomic coordinates 6:99,592,885-99,593,339. The screenshot of the DNASE1 gene 455 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DNASE1 in the 6q16.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:99,369,401 | COQ3 | Coenzyme Q3, methyltransferase |
| 6:99,398,050 | PNISR | PNN-interacting serine/arginine-rich protein |
| 6:99,432,325 | USP45 | Ubiquitin-specific protease 45 |
| 6:99,542,387 | CCNC | Cyclin C |
| 6:99,592,885 | DHS6S1 | DNase1 hypersensitivity, chromosome 6, site 1 |
| 6:99,606,833 | PRDM13 | PR domain-containing protein 13 |
| 6:99,918,519 | MCHR2 | Melanin-concentrating hormone receptor 2 |
| 6:100,000,001 | GEFSP8 | Generalized epilepsy with febrile seizures plus, type 8 |
| 6:100,385,009 | SIM1 | Single-minded, Drosophila, homolog of, 1 |
| 6:100,508,194 | ASCC3 | Activating signal cointegrator 1 complex, subunit 3 |
