Here I present: “Retinitis Pigmentosa Type-48”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RP48) icd10=H35.52
INTRODUCTION.
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 people. 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.
There is evidence that retinitis pigmentosa type-48 is caused by heterozygous mutation in the gene encoding guanylate cyclase activator 1B (GUCA1B) on cytogenetic location 6p21.1 and genomic coordinates 6:42,183,284-42,194,956. The screenshot of the GUCA1B gene 11,673 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GUCA1B in the 6p21.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:41,908,759 | BYSL | By the ribosomal protein S6 gene |
| 6:41,934,933 | CCND3 | Cyclin D3 |
| 6:42,050,524 | TAF8 | TATA-box binding protein-associated factor 8 |
| 6:42,101,119 | C6orf132 | Chromosome 6 open reading frame 132 |
| 6:42,173,364 | GUCA1A | Guanylate cyclase activator 1A, retina |
| 6:42,183,284 | GUCA1B | Guanylate cyclase activator 1B, retina |
| 6:42,206,807 | MRPS10 | Mitochondrial ribosomal protein S10 |
| 6:42,224,931 | TRERF1 | Transcriptional regulating factor 1 |
| 6:42,564,029 | UBR2 | Ubiquitin-protein ligase E3 component N-recognin 2 |
| 6:42,696,598 | PRPH2 | Peripherin 2 |
