Pathology of Retinitis Pigmentosa

doi:10.1016/S0161-6420(82)34620-5

Ophthalmology

Volume 89, Issue 12, December 1982, Pages 1425-1432

https://doi.org/10.1016/S0161-6420(82)34620-5 Get rights and content

Abstract

Eyes from patients with retinitis pigmentosa were obtained at autopsy. They were processed in celloidin and examined by light microscopy. The earliest evidence of retinal degeneration occurred in the equatorial zone and then extended peripherally and centrally. In the eyes with the earliest involvement, a sequence could be demonstrated in the zone of transition from the less involved macula to the more degenerated retina at the equator. The probable order for the development of degenerative changes in our material appeared to be as follows: (1) migration of nuclei from the outer nuclear layer to the rod and cone layer and the outer plexiform layer; (2) degeneration and loss of photoreceptors and their nuclei in the outer nuclear layer; (3) loss of connecting fibers in the outer plexiform layer; (4) migration of the retinal pigment epithelium (RPE) into the retina, mainly around the blood vessels, but also as isolated balls and spots (this prominent feature, which characterizes the disease, is secondary and only follows the loss of the photoreceptors and their nuclei); (5) adhesion of the retinal to the retinal pigment epithelium or Bruch’s membrane in spots or broad areas and; (6) possible transneuronal degeneration of some cells in the inner nuclear and ganglion cell layers. Gliosis of the disc was universal as was the presence of glial membranes from the disc extending over the posterior retina, especially prominent in the macular region. As the material was obtained from 16 to 35 years ago, we lack electrophysiologic and familial data and electron microscopy was not possible

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The Dutch ophthalmologist Cornelis Donders named the painless, progressive night-blinding disorder retinitis pigmentosa in 1855, not knowing the role, if any, that inflammation might have in its pathogenesis. As more was learned about the condition other names were recommended, but the term retinitis pigmentosa was too ensconced to discard. The inherited basis of retinitis pigmentosa was established during the first decades of the 20th century at the time when other inherited retinal disorders were being discovered. By the 1960s, Stewart Duke-Elder labeled the entire group of retinal-choroidal degenerations “tapetoretinal dystrophy,” and reserved the term typical pigmentary dystrophy for Donders' retinitis pigmentosa. This chapter traces major breakthroughs in understanding the retinal dystrophies, with an emphasis on elucidating the role that anatomic pathology played in comprehending disease mechanisms. The photograph gallery includes the histopathology of normal retina, retinitis pigmentosa, and cases of pseudo-retinitis pigmentosa due to trauma, syphilis and cancer-associated retinopathy.
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Despite their diverse etiologies, many of these diseases share similar outer retina pathologies. These include a decreased number of synapses, alterations in neural function, changes in nuclear position, remodeling of horizontal and bipolar cell dendrites, and photoreceptor degeneration (Samuel et al., 2011; Gartner and Henkind, 1982; Pow and Sullivan, 2007). Efforts to repair vision in these and other blinding diseases have focused heavily on cellular transplant therapies (Wang et al., 2020; Harris et al., 2016; Struzyna et al., 2014, 2015; Cullen et al., 2012).
Synapses in the outer retina are the first information relay points in vision. Here, photoreceptors form synapses onto two types of interneurons, bipolar cells and horizontal cells. Because outer retina synapses are particularly large and highly ordered, they have been a useful system for the discovery of mechanisms underlying synapse specificity and maintenance. Understanding these processes is critical to efforts aimed at restoring visual function through repairing or replacing neurons and promoting their connectivity. We review outer retina neuron synapse architecture, neural migration modes, and the cellular and molecular pathways that play key roles in the development and maintenance of these connections. We further discuss how these mechanisms may impact connectivity in the retina.
Assessment of inner retinal oxygen metrics and thickness in a mouse model of inherited retinal degeneration
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In later stages of IRD, patients may experience profound vision loss because of extensive photoreceptor cell degeneration (Verbakel et al., 2018). Histologically, the earliest defect in IRD is degeneration of the cells in the outer nuclear layer, including their rod photoreceptors and connecting fibers (Gartner and Henkind, 1982). Energy demand and oxygen consumption in retinal photoreceptors are high in order to generate neuronal signals needed to process light information (Braun et al., 1995).
The retinal degeneration 1 (rd1) mouse is a well-established model of inherited retinal degeneration, displaying photoreceptor degeneration and retinal vasculature damage. The purpose of the current study was to determine alterations in the rate of oxygen delivery from retinal circulation (DO₂), the rate of oxygen extraction from the retinal circulation for metabolism (MO₂), and oxygen extraction fraction (OEF) in rd1 mice. The study was performed in a total of 18 wild type (WT) and 10 rd1 mice at both 3-weeks and 12-weeks of age. Retinal arterial and venous oxygen contents (O_2A and O_2V) were measured using phosphorescence lifetime imaging. Total retinal blood flow (TRBF) was determined by fluorescence and red-free imaging. DO₂ and MO₂ were determined as TRBF × O_2A and TRBF × (O_2A-O_2V), respectively. OEF was calculated as MO₂/DO₂. The thickness of individual retinal layers was measured from histology sections and inner retina (IR) and total retina (TR) thickness were calculated. TRBF, DO₂ and MO₂ were lower in rd1 mice compared to WT mice (P ≤ 0.001), whereas OEF was not significantly different between rd1 and WT mice (P = 0.4). TRBF and DO₂ were lower at 3-weeks of age compared to 12-weeks of age (P ≤ 0.01), while MO₂ was not significantly different between age groups (P = 0.4) and OEF was higher at 3-weeks of age compared to 12-weeks of age (P = 0.003). Additionally, the outer and inner retinal cell layer thicknesses were decreased in rd1 mice at 12-weeks of age compared to both age-matched WT mice and rd1 mice at 3-weeks of age (P ≤ 0.02). MO₂ was directly correlated with both IR and TR thickness (R ≥ 0.50; P ≤ 0.03, N = 20). The findings indicate that the rate oxygen is supplied by the retinal circulation is decreased and the reduction in oxygen extracted for metabolism is related to retinal cell layer thinning in rd1 mice.
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Intriguingly, RPE cells normally form a stable monolayer and do not migrate, but start to migrate and proliferate in diseases such as PDR, AMD, and PVR. In patients with PDR, AMD, and glaucoma, expression levels of PEDF were decreased significantly and RPE cells abnormally migrate, suggesting there is a relationship between PEDF expression and RPE cell migration [11–19]. So far there is no direct evidence showing whether the downregulation of PEDF is related to the expression of MITF in those patients.
Cells of the retinal pigment epithelium (RPE) play major roles in metabolic functions, maintenance of photoreceptor function, and photoreceptor survival in the retina. They normally form a stable monolayer, but migrate during disease states. Although growth factors produced by the RPE cells primarily control these cellular events, how these factors are regulated in RPE cells remain largely unknown. Here we show that the basic–helix–loop-helix–leucine zipper microphthalmia-associated transcription factor (MITF), which plays central roles in the development and function of a variety of cell types including RPE cells, upregulates the expression of a multifunctional factor PEDF in RPE cells. Consequently, the upregulation of PEDF impairs microtubule assembly and thus inhibits RPE cell migration. Conversely, specific knockdown of PEDF partially rescues the impairment of microtubule assembly and cell migration proceeds in MITF overexpressing stable cells. We conclude that MITF acts through PEDF to inhibit RPE cell migration and to play a significant role in regulating RPE cellular function. We suggest that MITF has a novel and important role in maintaining RPE cells as a stable monolayer and the down-regulation of PEDF that may contribute to retinal degenerative diseases.
Retinitis Pigmentosa and Allied Disorders
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: Supported in part by an unrestricted grant from Research To Prevent Blindness.

: Presented at the Annual Meeting of the Association for Research in Vision and Ophthalmology, Sarasota, Florida May 1982 and at the Eighty-seventh Annual Meeting of the American Academy of Ophthalmology, San Francisco, California, October 30–November 5, 1982.

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Pathology of Retinitis Pigmentosa

Abstract

Am J Ophthalmol

Am J Ophthalmol

Am J Ophthalmol

Am J Ophthalmol

Surv Ophthalmol

Beiträge zur pathologischen Anatomie des Auges

Albrecht von Graefes Arch Ophthalmol

Aging and degeneration of the human macula. I. Outer nuclear layer and photoreceptors

Br J Ophthalmol

Microscopic observations in a case of retinitis pigmentosa

Arch Ophthalmol

Retinal ultrastructure in advanced retinitis pigmentosa

Invest Ophthalmol Vis Sci

Primary chorioretinal aberrations with night blindness

Pathology Trans Am Acad Ophthalmol Otolaryngol