Disorders

Retinal Cone Dystrophy 3A

Synonym(s): Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related, RCD3A

Gene	Locus	Protein
PDE6H	12p13	Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.