Autosomal dominant retinitis pigmentosa (ADRP)
Analysis ID 174
Analysis location Collaboration with another facility
Diagnosed illness Autosomal dominant retinitis pigmentosa (ADRP)
OMIM
Clinical information Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular disorders that lead to a progressive retinal degeneration affecting 1 in 3000 to 5000 people. Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at abourt 20 years of age. Upon examination, patients show decreased visual acuity, constricted visual field, dyschromatopsia, and the typical appearance of the fundus with dark pigmentary clumps in the midperiphery and perivenous area. They also present with attenuated retinal vessels, cystic macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% patients (excluding patients with Usher syndrome). 50% of female carriers of X-linked RP have a golden reflex in the posterior pole.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes
Analysis description Analysis consists of 370 mutations in 15 genes studied with use of microarray technology
Analysis indication Retinitis pigmentosa
Analysis time Appointed individually
Refund No
CGM laboratory name