Retinal degeneration in the mouse mutant, rd, was previously shown to be a disorder of cyclic nucleotide metabolism involving a deficiency in the activity of the rod photoreceptor cGMP phosphodiestera
Additional file 5: Supplementary Dataset File 5. Annotated transcripts with a) more than 1 median TPM and b) relative contribution to gene expression greater than 5%.
To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants in RDH12. Retrospective case seri
