Here I present: “Pattern Macular Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MDPT) icd10=H18.55
INTRODUCTION.
Pattern dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa-like changes have sometimes been observed in association with pattern dystrophy.
Three (3) main varieties of pattern dystrophy of the RPE have been described: reticular (‘fishnet-like‘) dystrophy and macroreticular (‘spider-shaped‘) dystrophy, and butterfly-shaped pigment dystrophy of the fovea.
There is evidence that pattern macular dystrophy type-1 is caused by heterozygous mutation in the photoreceptor peripherin gene (PRPH2) on cytogenetic location 6p21.1 and genomic coordinates 6:42,696,598-42,722,597. The screenshot of the PRPH2 gene 26,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PRPH2 in the 6p21.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 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 |
| 6:42,744,498 | TBCC | Tubulin-specific chaperone C |
| 6:42,746,339 | BICRAL | BRD4-interacting chromatin remodeling complex-associated protein-like |
| 6:42,879,616 | RPL7L1 | Ribosomal protein L7-like 1 |
| 6:42,916,053 | PTCRA | Pre-T-cell receptor, alpha-chain precursor |
| 6:42,928,002 | CNPY3 | Canopy 3, zebrafish, homolog of |
