Genetic Test
Various genetic mutations are associated with progressive retinal atrophy (PRA), and this genetic test screens for up to 12 mutations, including the following key genes:
CNGB1 (Cyclic Nucleotide Gated Channel Subunit Beta 1):
Encodes a protein that forms ion channels in retinal photoreceptor cells, essential for transmitting electrical signals in response to light stimuli.
PDE6A (Phosphodiesterase 6A):
Plays a critical role in the visual signal transduction pathway and is vital for maintaining normal photoreceptor cell function.
TTC8 (Tetratricopeptide Repeat Domain 8):
Involved in intracellular protein trafficking and is associated with certain forms of PRA.
SAG (S-Antigen, Arrestin):
Produces a protein that terminates visual signal transduction after light stimulation, thereby regulating retinal function.
RHO (Rhodopsin):
Encodes the primary light-sensitive protein in rod photoreceptor cells; mutations in RHO can cause night blindness and vision loss.
RPGR (Retinitis Pigmentosa GTPase Regulator):
Involved in protein transport within the retina and is a major cause of X-linked PRA.
GUCY2D (Guanylate Cyclase 2D):
Plays an important role in the recovery phase of photoreceptor cells; mutations are linked to early-onset PRA.
CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1):
Partners with CNGB1 to form ion channels essential for visual signal transduction.
CCDC66 (Coiled-Coil Domain Containing 66):
Related to retinal development and function; identified as a PRA-associated gene in certain dog breeds.
Disease Description
The retina is a thin layer of tissue lining the inside of the eye, responsible for essential visual functions including light absorption, detection, and signal transmission.
Progressive retinal atrophy (PRA) is a congenital retinal disorder caused by abnormalities in the rod and cone photoreceptor cells, which are responsible for light perception.
This disease is progressive, with early visual impairments often subtle and difficult to detect.
Over time, affected animals experience gradual vision loss, ultimately leading to complete blindness.
