Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

Purpose: To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by an RPGR exon ORF15 mutation.

Design: Histopathologic study of the retina.

Methods: The eye of a 69-year-old man was fixed at 1.

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.

Purpose: A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G>A, last base of exon 2) predicted to cause a missense change (G52R) in the final protein. This study was performed to determine whether this mutation altered the effectiveness of the adjacent splice site.

Design: Observational case report.

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

X-linked cone-rod dystrophy (COD1) is a retinal disease that primarily affects the cone photoreceptors; the disease was originally mapped to a limited region of Xp11.4. We evaluated the three families from our original study with new markers and clinically reassessed all key recombinants; we determined that the critical intervals in families 2 and 3 overlapped the RP3 locus and that a status change (from affected to probably unaffected) of a key recombinant individual in family 1 also reassigned the disease locus to include RP3 as well.