IND Enabling
Phase I
Phase II
Phase III
Disease name: Retinitis Pigmentosa
ICD-10 Disease Code: H35.52: Pigmentary retinal dystrophy
ICD-10 Disease Group: H35 Other retinal disorders
General description:General description:
Retinitis pigmentosa (RP) refers to a group of related eye disorders that cause progressive vision loss. RP is a rare inherited retinal dystrophy that causes progressive loss of vision due to loss of the photoreceptors and spots of black pigmentation of the retinal pigment epithelium. RP can lead to total blindness after decades.
The disease manifests with decreased vision in low light and night blindness due to loss of rod function, often in adolescence or earlier, followed by a decrease in peripheral vision, eventually affecting central vision and leading to blindness.
When the disease occurs by itself, it is described as non-syndromic.
Mutations:Mutations:
More than 3,000 mutations in over 60 different genes or loci are currently known to cause non-syndromic RP. More than 20 of these genes are associated with the autosomal dominant form of the disorder. The most common mutation responsible for the autosomal dominant form of RP are in the RHO gene. The most common mutations associated with the autosomal recessive form of RP are within the USH2A gene. As for the X-linked form of RP, mutations in the RPGR and RP2 genes account for most cases.
Disease frequency:Retinitis pigmentosa is one of the most common inherited retina diseases. It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.
Symptoms:Symptoms:
The most common, and often only, symptom of RP is progressive vision loss beginning with night blindness and eventually leading to central vision loss. Central vision loss may occur at any age as a result of macular edema or photoreceptor loss. Cataracts are a common symptom and severity is age dependent. Another possible symptom is reduced colour vision.
Examination of RP shows bone spicule pigment deposits, attenuated retinal vessels, retinal atrophy and waxy optic nerve pallor.
Treatment:Treatment:
Currently, treatment mainly involves slowing the progression of the disease. Treatments include Vitamin A palmitate and lutein-DHA, oral acetazolamide or topical dorzolamide to reduce cystoid macular edema. Lens extraction can help when cataracts reduce visual acuity. Specialised sunglasses and optical aids can also be used to treat symptoms.
Sources:- https://www.icd10data.com/
- https://www.orpha.net/consor/cgi-bin/index.php
- https://rarediseases.org/
- https://medlineplus.gov/genetics/
- https://www.cdc.gov/
