Progressive Retinal Atrophy English Shepherd Type (PRA-PRA6)
English Shepherd PRA, PRA6, PRA-6
Progressive Retinal Atrophy (PRA) is a category of different progressive conditions related to retinal atrophy that can eventually lead to blindness. Progressive Retinal Atrophy English Shepherd Type (PRA-PRA6) is one specific type of PRA that affects the English Shepherd breed. It is an inherited eye disease with a late onset of symptoms that are due to degeneration of the rod and cone cells of the retina. These cells are important for vision in dim and bright light. Most dogs begin to show symptoms of the disease at approximately 4-5 years of age which manifests as difficulty seeing at night (night blindness) and loss of peripheral vision. Although the rate of onset and disease progression can vary, PRA-PRA6 typically results in eventual loss of sight and complete blindness in affected dogs.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Progressive Retinal Atrophy PRA6 nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Progressive Retinal Atrophy PRA6 and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Progressive Retinal Atrophy PRA6 which typically results in eventual loss of sight and complete blindness.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
FAM161A
OFA Accepted
No
Chromosome
Ch. 10
Mutation
c.17929/p.577: 210 bp SINE insertion
Publication:
Stanbury K, Schofield EC, McLaughlin B, Forman OP, Mellersh CS. Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd. Genes. 2024; 15(7):952. [PubMed: 39062732]