Etyologi RP

Retinitis Pigmentosa inheritance and expression patterns have been linked to over 100
genetic loci on 50 distinct genes.(3) even though it's possible that many more genes remain
undiscovered.(2) Except for a small number of genes that can cause both dominant and
recessive variants of Retinitis Pigmentosa, Retinitis Pigmentosa is often inherited as
mendelian features, meaning that most genes are associated to just one kind of inheritance.
(2)
Generally speaking, there are two types of retinal pigmentosa: syndromic and non-
syndromic. The kind of retinitis pigmentosa that does not cause systemic problems affects
between 70 and 80 percent of patients.(3) Syndromic Retinitis Pigmentosa, which affects
20–30% of all patients, is defined as Retinitis Pigmentosa that is accompanied by other, non-
ocular syndromes and systemic disease.(3,4)

Non-syndromic Retinitis Pigmentosa has been linked to mutations in 80 distinct genes.(4)

and roughly 20% of cases are autosomal recessive (AR), 10% are X-linked recessive (XLR),
and 10–20% are autosomal dominant (AD).(3) Although it was previously believed that only
men were affected by X-linked Retinitis Pigmentosa (XLRP), it has been discovered that
female carriers can have a variety of phenotypes, ranging from asymptomatic to severe
retinal illness.(9) The remaining cases of RP are "sporadic," meaning there is no established
molecular cause or pattern of inheritance.(3)

Rare occurrences of uniparental isodisomy, digenic diallelic inheritance, RP caused by

mutations in mitochondrial DNA, and incomplete penetrance have all been recorded. These
conditions are caused by simultaneous mutations in the RDS gene and ROM1 gene.(2,10)

Pathophysiology of Retinitis Pigmentosa

The Retinitis Pigmentosa-related genes perform crucial functions in the composition and
operation of the vision-related photoreceptors.(2,3).