Cone dystrophies are diagnosed by an abnormal or nonrecordable photopic ERG and a normal scotopic ERG, while peripheral visual fields remain normal. All three inheritance patterns, autosomal dominant, autosomal recessive, and X-linked, have been found in the cone degenerations. Symptoms of cone dysfunction include loss of visual acuity, photophobia (light intolerance), and progressive color vision loss. Retinal pigment epithelial loss and pigment deposition may be seen in later stages. Mild to severe temporal optic atrophy, bull’s eye maculopathy with or without tapetal reflexes or macular atrophy may be seen.
Cone-rod dystrophy (CORD) is characterized by an initial loss of color vision and visual acuity, followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina.
These conditions can have overlapping clinical presentations.
Please note, the RAB28 gene is not included on the NGS panel at this time due to the presence of at least 2 pseudogenes. For clinicians that would like RAB28 analysis if all other genes test negative, we request consultation with EGL directly.
- Daiger et al. (1998) Invest Ophthalmol Vis Sci 39:S295.
- Confirmation of a clinical diagnosis of achromatopsia, cone, and cone-rod dystrophy.
- Carrier testing in adults with a family history of achromatopsia, cone, and cone-rod dystrophy.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels.
- Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.