Pigmentary retinal dystrophy

Synonyms

Fundus albipunctatus; PRPH2-Related Fundus Albipunctatus; RDH5-Related Fundus Albipunctatus; RLBP1-Related Fundus Albipunctatus

Modes of inheritance

Autosomal recessive inheritance

Autosomal recessive inheritance

MedGen UID: 141025, Concept ID: C0441748, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

(Orphanet)
Autosomal dominant inheritance

Autosomal dominant inheritance

MedGen UID: 141047, Concept ID: C0443147, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

(Orphanet)