[2] Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training.

Acquired conditions resulting in ophthalmoscopic findings resembling RP include eye inflammation associated with infection in early age (rubella, syphilis, toxoplasmosis, herpesvirus), autoimmune paraneoplastic retinopathy, drug toxicity (phenothiazines and chloroquine, less commonly with thioridazine and hydroxychloroquine), diffuse unilateral subacute neuroretinitis and eye trauma.

[13] There are multiple genes that code for proteins needed in the visual pathway that, when mutated, can cause the retinitis pigmentosa phenotype.

Autosomal Dominant RP Type 11 (PRPF-31) can be inherited as a genotype only because of incomplete penetrance, and is thus coded for in the DNA but does not manifest the disease as a phenotype.

[15] In 1989, a mutation of the gene for rhodopsin, a pigment that plays an essential part in the visual transduction cascade enabling vision in low-light conditions, was identified.

Since the discovery of the rhodopsin gene, more than 100 RHO mutations have been identified, accounting for 15% of all types of retinal degeneration, and approximately 25% of autosomal dominant forms of RP.

[16][18][19][20][21] In 2000, a rare mutation in codon 23 was reported causing autosomal dominant retinitis pigmentosa, in which proline changed to alanine.

[15] This means that two unaffected individuals who are carriers of the same RP-inducing gene mutation in diallelic form can produce offspring with the RP phenotype.

Additionally, the misfolding of Class II rhodopsin gene mutations disrupts the protein's conjunction with 11-cis-retinal to induce proper chromophore formation.

Photographing the back of the dilated eye allows the confirmation of bone spicule accumulation in the fundus, which presents during the later stages of RP retinal degeneration.

Electroretinography (ERG) confirms the RP diagnosis by evaluating functional aspects associated with photoreceptor degeneration, and can detect physiological abnormalities before the initial manifestation of symptoms.

The patient's family history is also considered when determining a diagnosis due to the genetic mode of inheritance of retinitis pigmentosa.

The efficiency of various supplements, such as vitamin A, DHA, NAC, and lutein, in delaying disease progression remains an unresolved, yet prospective treatment option.

[34] Studies have demonstrated the delay of rod photoreceptor degeneration by the daily intake of 15000 IU (equivalent to 4.5 mg) of vitamin A palmitate; thus, stalling disease progression in some patients.

In June 2013, twelve hospitals in the US announced they would soon accept consultation for patients with RP in preparation for the launch of Argus II later that year.

Measures of visual improvements from Alpha-IMS studies require the demonstration of the device's safety before proceeding with clinical trials and granting market approval.

[45] One study at UC Berkeley found that disulfiram, a drug used to treat alcoholism in humans, had potential to partially restore vision loss in rats with retinitis pigmentosa, even during late stages of the disease.

The progressive nature of and lack of a definitive cure for retinitis pigmentosa contribute to the inevitably discouraging outlook for patients with this disease.

[49] Studies indicate that children carrying the disease genotype benefit from presymptomatic counseling in order to prepare for the physical and social implications associated with progressive vision loss.

While the psychological prognosis can be slightly alleviated with active counseling[50] the physical implications and progression of the disease depend largely on the age of initial symptom manifestation and the rate of photoreceptor degradation, rather than access to prospective treatments.

[27] Retinitis pigmentosa is the leading cause of inherited blindness,[51] with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime.

Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in retinitis pigmentosa are passed down through familial lines; thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease.

Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations.

[59] 2015: A study by Bakondi et al. at Cedars-Sinai Medical Center showed that CRISPR/Cas9 can be used to treat rats with the autosomal dominant form of retinitis pigmentosa.

[61][62] 2016: RetroSense Therapeutics aimed to inject viruses with DNA from light-sensitive algae into the eyes of several blind people (who have retinitis pigmentosa).

[63][64] In 2017 the FDA approved the gene therapy voretigene neparvovec to treat people with biallelic RPE65 mutation-associated retinal dystrophy.

[65] In 2020, a literature review estimated the experimental therapeutic technique called transcorneal electrical stimulation as "probably effective" (level B) in retinitis pigmentosa, based on the evidence available at that time.