Inherited retinal dystrophies (IRD) are the leading cause of legal blindness in the working population. Cystic macular edema (CME) is one of the treatable causes of visual loss, affecting up to 50% of the patients. A bibliographic review has been carried out combining \"inherited retinal dystrophy\", \"retinitis pigmentosa\", \"macular oedema\" and a diagnostic-therapeutic protocol according to the levels of evidence and recommendations of the \"US Agency for Healthcare Research and Quality\". This protocol has been discussed in the monthly meetings of the XAREA DHR group with the participation of more than 25 ophthalmologists, creating a consensus document. The etiology of CME is multifactorial: dysfunction of the blood-retinal barrier, retinal pigment epithelium, and Müller cells, inflammation, and vitreous traction. OCT is the test of choice for the diagnosis and follow-up of CME associated with IRD. The drugs with the highest degree of scientific evidence are carbonic anhydrase inhibitors (IAC). Intravitreal corticosteroids, anti-VEGF, and vitrectomy with peeling of the internal limiting membrane do not have sufficient evidence. A treatment scheme is proposed for the CME in IRD in adults, another for pediatric patients and another for IRD and cataract surgery. Oral and topical IACs are effective in the treatment of CME secondary to IRD. Treatment with corticosteroids, anti-VEGF, and vitrectomy are second-line options. Randomized clinical trials are required to establish the therapeutic scale in these patients.

60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt\'s disease. We propose the name \'Stargardt\'s pigmentosa\' for this novel clinical entity.

Retinitis pigmentosa (RP) is a group of inherited diseases that lead to degeneration of the retina and decreased vision. The World Health Organization reports around 1,300 million people affected by some type of visual impairment worldwide. The prevalence is 1 in every 4000 inhabitants and it is the first cause of blindness of genetic origin, frequent in men with a percentage of 60% and 40% in women. There is a lack of information on this pathology in the world, mainly on the existing treatments for this disease, so this bibliographic review aims to update the existing or under-study treatments and inform the limitations of each of these therapies. This review of scientific literature was carried out by consulting databases such as PubMed and Web of science, the search will be limited to articles from the years 2018-2022. There are several types of therapy in studies: gene therapy, transcorneal electrical stimulation, use of neuroprotectors, optogenic therapy, stem cell transplants and oligonucleotide therapy, which will be discussed in this article, both their benefits and the existing barriers in each treatment experimental. In conclusion, each of these therapies promises a viable treatment in the future for selective groups of people with retinitis pigmentosa, however, some therapies have shown benefit at the beginning of the disease, losing their efficacy in the long term.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration in the metabolic pathway of fatty acids. Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening, and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided. Finally, a review of the literature of this potentially lethal pathology is presented, and the main pathological and clinical features are highlighted.

BACKGROUND: Retinitis pigmentosa is the most common chronic and inherited condition of retinal dystrophy. The progressive involvement of retinal photoreceptors and other layers characterize this condition. This situation results in optic disc pallor and retinal pigment deposition vascular attenuation.
METHODS: We present the case of a 15-year-old male with a history of 6 months evolution characterized by night blindness and bilateral impairment of superior temporal vision.
CONCLUSIONS: This type of dystrophy is a genetic and progressive eye condition that begins during adolescence and produces visual impairment.