Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Abstract

Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zone line width obtained by spectral-domain optical coherence tomography (SD-OCT). Results For the ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 259 μm per year and the ring area decreased at a rate of 2.46 mm 2 per year. For the non-ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 84 μm per year and the ring area decreased at a rate of 0.7 mm 2 per year. Conclusions Our study was able to quantify and compare the loss of EZ line width and short-wavelength autofluorescence (SW-AF) ring constriction progression over time for ciliopathy and non-ciliopathy arRP genes. These results may serve as a basis for modeling RP disease progression, and furthermore, they could potentially be used as endpoints in clinical trials seeking to promote cone and rod survival in RP patients.

Management of retinitis pigmentosa by Wharton’s jelly-derived mesenchymal stem cells: prospective analysis of 1-year results

“…Genetic mutations that lead to retinitis pigmentosa can occur or be transferred by autosomal dominant (AD), autosomal recessive (AR), X-linked, mitochondrial, mosaic, or sporadic inheritance [9][10][11][12][13][14][15][16][17][18][19][20][21][22]. Rhodopsin and opsin are the major protein products which synthesized in the photoreceptors [18][19][20].…”

“…Since both alleles are mutants, they progress faster. The average annual EZ loss rate is around 10% [11][12][13][14][15][16][17]. The proteins responsible for the energy cycle are similar to the exosome contents produced by stem cells .…”

“…Today, 260 different mutations detected in these 90 genes have been shown to lead to RP [9,10]. Retinitis pigmentosa is a rare and very heterogeneous disease [11][12][13][14][15][16][17][18][19][20][21][22]. For this reason, gene therapy has many unknowns and is not cost-effective [10,23].…”

Management of Retinitis Pigmentosa via Platelet Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of One-year Results

“…The photoreceptors have cilia tubule functions that provide the transport of opsin and rhodopsin and can be impaired by X-linked mutations-they can be distinguished by the presence of widespread lipofuscin deposits in the fundus examination. The ciliopathy gene mutations have threefold faster progression than non-ciliopathy mutations [23]. Retinitis pigmentosa progresses with an average of 10% annual photoreceptor loss when AD, AR, X-linked, and mitochondrial inheritance patterns are collectively evaluated [6,24,25].…”

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients

“…The recent adaptation of high-throughput DNA sequencing technologies has accelerated the identification of the causative genes of Japanese patients with RP, and these studies have revealed the major causative genes in this population. [4][5][6] Some of these major genes were categorized into the ciliopathy-related genes (e.g., the USH2A, RPGR, RP1, and RP1L1 genes), [7][8][9][10][11][12] and it was also suggested that the function of the EYS protein is associated with the cilia. 1,13,14 Recently, several studies have reported that steep macular curvatures were observed in the eyes of patients with various inherited retinal disorders, including retinal ciliopathy, Joubert syndrome, Leber's congenital amaurosis, and RP without high myopia.…”