Medicine and Health Sciences Commons^™

We have used immunocytochemistry and in situ hybridization to examine the expression of photoreceptor specific genes in retinas of normal dogs and those affected with hereditary cone degeneration (cd), a rare autosomal recessive disorder that selectively affects cones. In thecdretina, cone disease begins early in life; cones are lost by extrusion of the nucleus into the inner segment, and later, by displacement of the nucleus, surrounded by a thin rim of cytoplasm, into the interphotoreceptor space. Two micrometer sections from the superior and inferior retinal meridians, extending from the optic disk to the ora serrata, were used for in situ …

Purpose:  To determine whether early retinal degeneration (erd) and progressive rod cone degeneration (prcd), two canine hereditary retinal degenerations, are caused by allelic mutations; to determine the cDNA sequence of the canine RDS/peripherin homolog (CFRDSP); and to test whether mutations(s) in CFRDSP cause(s) either erd or prcd.

Methods: Three erd-affected dogs were crossbred to three prcd-affected dogs, and their progeny were tested by electroretinography and retinal morphology for evidence of retinal degeneration. Canine RDS/peripherin cDNA was cloned and sequenced after reverse-transcription-polymerase chain reaction (RT-PCR) of total retinal RNA. A set of overlapping fragments of CFRDSP cDNA amplified from normal and …