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Dante Labs US Report

Non-syndromic Retinitis Pigmentosa

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Retinitis pigmentosa (RP) includes a number of congenital changes in the retinal photoreceptors (rods and cones), which can lead to blindness. It is the most common form of retinal dystrophy and can present in a non-syndromic form (i.e. as an isolated disorder) or associated with complex medical conditions, which can affect different organs and systems (syndromic form, which affects about 20-30% of cases ).
RP is characterized primarily by rod degeneration, followed by loss of cones. This succession of events, which begin from childhood, is reflected in the typical symptoms of Retinitis: in the initial stages, in fact, the affected subject undergoes a reduction in nocturnal visual acuity and has sensitivity to glare. The progression of the disease continues with the progressive reduction of peripheral vision, which makes it difficult to see objects placed laterally. In the lateral visual field, in fact, blind spots appear that tend to merge with each other, leading to the so-called tubular vision.
This is due to the involvement of the cones. Finally, the increasing reduction in ocular function will also affect central vision, making it extremely difficult to perform tasks such as driving or reading.
Non-syndromic RP can be transmitted in an autosomal dominant, recessive or X-linked manner and, as previously mentioned, it can also occur in the context of complex syndromic conditions, in which this eye disease is one of the multiple signs and symptoms that can arise. The most common form of syndromic RP is that associated with Usher Syndrome, in which the loss of visual function is associated with that of another important sensory function, hearing.
This panel analyzes the main genes associated with non-syndromic RP, in its three modes of inheritance.

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What is Whole Genome Sequencing?

Next-generation sequencing (NGS) techniques cross the labyrinth of genome complexity and enable transcription of the entire DNA. These technologies have achieved several goals such as workflow optimization, result customization, and data analysis and interpretation.

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