Retinitis Pigmentosa and Other Dystrophies

Abstract

Retinitis pigmentosa (RP) is an inherited retinal degeneration that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Fluorescein angiography and/or optical coherence tomography detect the presence of macular edema in 10-20% of RP patients. Macular edema can manifest at any stage of the disease and may be unilateral or bilateral. In X-linked forms, macular edema is very rare. The origin of macular edema in RP patients still remains poorly understood. The possible pathophysiological role of autoantibodies has been suggested (retinal, carbonic anhydrase, and enolase antibodies). Drug therapy is the primary treatment for macular edema in patients with R P. Systemic carbonic anhydrase inhibitors, such as oral acetazolamide or topical dorzolamide, still are the mainstay of initial therapy. If cystoid macular edema is refractory to acetazolamide, intravitreal corticosteroid injections could be administered. Intravitreal anti-vascular endothelial growth factor therapy has also been used in cases of macular edema persistence after oral acetazolamide therapy, though with uncertain results. Vitrectomy can also be proposed, but its role is not clear yet. Autoimmune retinopathies (AIRs) are a group of rare diseases characterized by acute or subacute progressive vision loss and are thought to be mediated by autoantibodies specific to retinal antigens. The AIRs encompass paraneoplastic syndromes, such as cancer-associated retinopathy and melanoma-associated retinopathy, and a larger group of AIRs that have similar clinical and immunological findings but without underlying malignancy. These diseases may also be complicated by macular edema.

New method to assess mitophagy flux by flow cytometry

“…Retinitis pigmentosa is a retinal dystrophy that results in the death of retinal photoreceptor cells, the light-sensitive cells of this tissue. 34 Patients with retinitis pigmentosa eventually become blind, and currently there is no effective therapy for this devastating condition. Pde6b rd10 /Rd10 mice are used as an animal model of this disease.…”

Computer-Assisted Evaluation of Retinal Vessel Diameter in Retinitis Pigmentosa

“…It consists of a progressive retinal degeneration due to the loss of photoreceptors. Clinically, fundus examination shows diffused dystrophy of the retinal pigment epithelium, waxy optic disc pallor, vessels narrowing, and bone spicule pigmentation [3,4,5,6] (fig. 1).…”

Enhanced Differentiation and Delivery of Mouse Retinal Progenitor Cells Using a Micropatterned Biodegradable Thin-Film Polycaprolactone Scaffold

“…1,2 The cell transplantation is a promising strategy to replace the damaged or lost cells. [3][4][5] However in advanced stages of RP and AMD, deterioration of the retinal microenvironment and the lack of signaling cues to promote proper cell organization and differentiation are some of the main challenges highlighting the need for a tissue-engineering approach in the success of retinal regeneration.…”