Asper Biogene – genetic testing company

Autosomal Recessive Retinitis Pigmentosa
NGS panel

Sequencing of the RPE65 gene

Deletion/duplication analysis

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually non-syndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.

Leber Congenital Amaurosis
NGS panel

Deletion/duplication analysis

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Prediction of disease progression
3. Carrier testing for at-risk family members
4. Genetic counseling
5. Prenatal diagnosis for known familial mutation

Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. It is diagnosed by a severely reduced or absent electroretinogram (ERG) before one year of age. Shortly after birth, patients usually manifest poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). LCA is mostly inherited as an autosomal recessive disorder.