Genomic coordinate (human 12:55,720,376 RDH5).
Cytoband (human 12q13.2 RDH5).
Intraband %= 71.8%
Polymorphs= 282 RDH5
Here I 🎁 present: “Fundus albipunctatus”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RDH5)
Fundus Albipunctatus is a catastrophe of visual‑cycle resilience.
RDH5 deficiency reduces the structural capacity of the retinal pigment epithelium, shrinking the basin of attraction for efficient chromophore regeneration. Photobleaching demand acts as the destabilizing control parameter. Crossing the fold bifurcation produces a transition from rapid to delayed dark adaptation, while the characteristic white punctate lesions represent the long‑term retinal signature of altered retinoid metabolism. Variant pathogenicity reflects the degree to which an allele shifts the system along the α‑axis toward the cusp.
Fundus Albipunctatusis a form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested.
