Article for CME CreditAutosomal dominant cone–rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase1☆,
Section snippets
Patients
Twenty-seven members of the family originally linked to CORD67(Fig 1) were contacted and enrolled into a clinical and molecular genetic study. Eleven members (one from historical records only) were found to have clinical features of CRD. Local ethical committee approval and informed consent for clinical investigations was obtained from all enrolled participants before the study.
Molecular genetics
Molecular genetic study has established that CRD in this family is associated with a heterozygous alteration of GUCY2D
Results
Table 1lists clinical and electrophysiologic features identified in affected individuals studied. One patient declined examination but did supply clinical information that was consistent with affected status. Early-onset disease was reported by all affected individuals: all were aware of poor vision before 6 years of age. Marked photophobia was reported in several affected individuals. Peripheral field loss and nyctalopia were not reported until the fourth decade of life, and significantly, the
Discussion
Four genomic loci have now been implicated in the cause of autosomal dominant CRD, each with differentiating clinical features. Adult-onset CRD has been documented for the CORD7 locus8 and with mutations of CRX (Glu168delΔ1bp,3 Glu80Ala,3 Arg41Trp,34 Arg41Gln,34 Val242Met,34 196/7delΔ4bp34) at the CORD2 locus. The original CORD2-linked CRD family,19 in which disease progresses to no light perception by middle age, is not associated with a CRX mutation.35 Szlyk et al36 have subclassified CRD
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Supported by the TFC Frost Charitable Trust, the Foundation Fighting Blindness, and the Wellcome Trust (grant no.: 041905).
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The authors have no proprietary interests in the materials mentioned in the study.