**Background:** Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by primary rod photoreceptor loss followed by secondary cone degeneration, leading to progressive visual impairment. Prevalence ranges from 1 in 750 to 1 in 9000 individuals globally, with higher rates in consanguineous populations. Over 90 genes have been linked to RP, and the disease can be inherited as autosomal dominant (15–25%), autosomal recessive (5–20%), or X-linked (5–15%). Syndromic forms (e.g., Usher syndrome) occur in 20–30% of cases. Historically considered untreatable, recent advances—particularly gene therapy—have introduced potential disease-modifying treatments, with voretigene neparvovec (Luxturna) approved for RPE65-associated retinopathy. This review aims to update clinicians on current management tools, including diagnosis, genetic counseling, complication management, rehabilitation, and emerging therapies.
**Methods:** This is a narrative review synthesizing literature on RP clinical management and emerging therapies. The authors discuss pathophysiology, classification, clinical symptoms, diagnostic testing (clinical and genetic), genetic counseling, management of complications (cataract, cystoid macular edema, glaucoma, uveitis, retinal detachment), rehabilitative and psychological management, and investigational treatments (gene-dependent and gene-independent strategies). Data are drawn from published studies, clinical trials, and expert consensus.
**Key Results:**
- **Cataract surgery** in RP patients shows average BCVA improvements ranging from −0.03 to −0.55 logMAR across studies, but complications are common: posterior capsular opacification (17–95%), cystoid macular edema (CME) (3–32%), zonular dialysis (up to 13%), and IOL dislocation (1–3%). Preoperative evaluation of ellipsoid zone integrity and CME via SD-OCT is recommended.
- **Cystoid macular edema** prevalence is 10–70% in at least one eye. Oral carbonic anhydrase inhibitors (e.g., acetazolamide) reduce central macular thickness in up to 80% of patients, but visual acuity gains are limited. Topical CAIs (dorzolamide, brinzolamide) show efficacy in 30–81% of eyes. Intravitreal dexamethasone implants may be more effective than oral acetazolamide in reducing CME and improving BCVA, but evidence is limited.
- **Genetic testing** using next-generation sequencing (targeted gene panels, whole-exome, whole-genome) achieves diagnostic rates of 60–80%. Genetic counseling is essential for family planning, prognosis, and trial eligibility.
- **Emerging therapies:** Gene augmentation therapy (e.g., voretigene neparvovec for RPE65) shows functional improvements (BCVA, FST blue, mobility test) lasting up to 7.5 years, but costs ~$425,000 per eye and may cause chorioretinal atrophy. Optogenetics (e.g., ChrimsonR with goggles) has demonstrated partial visual function recovery in a patient with light perception vision. Stem cell therapy and retinal prostheses (Argus II, Retina Implant Alpha-AMS) have shown modest visual gains but are limited by adverse events (e.g., conjunctival erosion in 30–40% of Argus II users). Neurotrophic factors (CNTF) and antioxidants (N-acetylcysteine) have shown some benefit in trials but are not yet approved. Nutritional supplements (vitamin A, DHA) lack strong evidence and may be harmful in certain genotypes (e.g., ABCA4 variants).
**Clinical Implications:** The management of RP requires a multidisciplinary approach integrating genetic diagnosis, counseling, treatment of complications, and low-vision rehabilitation. Cataract surgery can improve vision but carries higher complication risks; careful preoperative assessment and postoperative monitoring are essential. CME management should prioritize CAIs, with systemic agents preferred over topical due to superior efficacy. Genetic testing is critical for identifying candidates for gene therapy and for family planning. Emerging therapies offer hope but are gene- and stage-specific; most patients are not eligible for current gene therapies. Low-vision rehabilitation services improve quality of life and should be offered early. Clinicians should counsel patients about realistic expectations and the importance of regular follow-up to adapt to evolving treatment options.