Progressive Retinal Degeneration in Ranch Mink

1984 ◽  
Vol 21 (1) ◽  
pp. 18-27 ◽  
Author(s):  
W. J. Hadlow
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Structural Integrity ◽  
Pigment Epithelium ◽  
Outer Nuclear Layer ◽  
Viral Diseases ◽  
Rods And Cones ◽  
Progressive Degeneration ◽  
Ranch Mink ◽  
Growth And Reproduction

Retinal degeneration was prevalent in a large group of sapphire and pastel mink (Mustela vison) kept for studies on slow viral diseases. Nearly 78% of those two to eight years old were affected. The retinopathy was equally common in both sexes but more frequent in sapphires (85%) than in pastels (63%), and it was severe more often in sapphires than in pastels. By light microscopy, the primary change appeared to be progressive degeneration of fully developed photoreceptors, beginning in their outer segments. In many mink, including some younger ones, the rods and cones and outer nuclear layer had disappeared from all but the far periphery of the fundus. The inner retinal layers were spared until late in the disease, and the pigment epithelium remained essentially unchanged. The cause of the retinopathy was not established. It may represent an abiotrophy in which the structural integrity of the photoreceptors began to wane in many mink after they reached two years of age. Apart from reducing visual acuity, the retinopathy has implications for the photoperiodic control of fur growth and reproduction in this highly light-sensitive carnivore.

Outer nuclear layer relevance in visual function correlated to quantitative enface OCT parameters in Stargardt disease

2021 ◽  
pp. 112067212199057
Author(s):  
Dario Pasquale Mucciolo ◽  
Myrta Lippera ◽  
Dario Giorgio ◽  
Andrea Sodi ◽  
Ilaria Passerini ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Pigment Epithelium ◽  
Outer Nuclear Layer ◽  
Retinal Pigment ◽  
Ophthalmological Examination ◽  
Stargardt Disease ◽  
Rpe Atrophy ◽  
The Mean ◽  
Fundus Photographs ◽  
Auto Fluorescence

Purpose: To evaluate the correlation between Best Corrected Visual Acuity (BCVA) and the following parameters in Stargardt Disease (STGD): Central Retinal Thickness (CR-T), Central Outer Nuclear Layer Thickness (C-ONL-T), Areas of macular Photoreceptor loss (PHRa), and Retinal Pigment Epithelium (RPE) loss (RPEa). Methods: A total of 64 eyes of 32 STGD patients were included in the study. All patients received a comprehensive ophthalmological examination, color fundus photographs, fundus auto-fluorescence imaging, and Optical Coherence Tomography (OCT). The CR-T and C-ONL-T were evaluated from standard SD-OCT scans. The PHRa and RPEa were calculated from enface OCT scans (sub RPE slab and photoreceptor slab). The collected OCT parameters were evaluated for possible association with BCVA. Results: The mean macular PHRa and RPEa was 16.16 ± 13.36 and 12.05 ± 12.57 mm2 respectively. The mean CR-T measured 120.78 ± 41.49 μm while the mean C-ONL-T was assessed at 4.60 ± 13.73 μm. BCVA showed the highest correlation with the C-ONL-T ( r = −0.72; p < 0.001) while there was no correlation with the CR-T ( r = −0.17; p = 1.00). Conclusions: Enface OCT permits a rapid and precise quantitative evaluation of the macular PHR and RPE atrophy area in STGD. Nonetheless, the OCT parameter that showed the highest correlation with visual acuity in STGD was the ONL thickness.

scholarly journals Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

2021 ◽  
Vol 9 ◽  
Author(s):  
Avigail Beryozkin ◽  
Hamzah Aweidah ◽  
Roque Daniel Carrero Valenzuela ◽  
Myriam Berman ◽  
Oscar Iguzquiza ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Clinical Data ◽  
Age Of Onset ◽  
Outer Nuclear Layer ◽  
Visual Fields ◽  
Severe Form ◽  
Posterior Pole ◽  
Missense Mutations ◽  
Full Field

Purpose:RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone–rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize RPGRIP1 patients from our cohort, collect clinical data of additional RPGRIP1 patients reported previously in the literature, identify common clinical features, and seek genotype–phenotype correlations.Methods: Clinical data were collected from 16 patients of our cohort and 212 previously reported RPGRIP1 patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG).Results: Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was during early childhood (n = 133, average of 1.7 years). All patients but 6 had moderate hyperopia (n = 59, mean of 4.8D), and average BCVA was 0.06 Snellen (n = 124; only 10 patients had visual acuity [VA] &gt; 0.10 Snellen). On funduscopy, narrowing of blood vessels was noted early in life. Most patients had mild bone spicule-like pigmentation starting in the midperiphery and later encroaching upon the posterior pole. OCT showed thinning of the outer nuclear layer (ONL), while cystoid changes and edema were relatively rare. VF were usually very constricted from early on. ffERG responses were non-detectable in the vast majority of cases. Most of the mutations are predicted to be null (363 alleles), and 93 alleles harbored missense mutations. Missense mutations were identified only in two regions: the RPGR-interacting domain and the C2 domains. Biallelic null mutations are mostly associated with a severe form of the disease, whereas biallelic missense mutations usually cause a milder disease (mostly CRD).Conclusion: Our results indicate that RPGRIP1 biallelic mutations usually cause severe retinal degeneration at an early age with a cone–rod pattern. However, most of the patients exhibit preservation of some (usually low) BCVA for a long period and can potentially benefit from gene therapy. Missense changes appear only in the conserved domains and are associated with a milder phenotype.

scholarly journals Association between Visual Acuity and Retinal Layer Metrics in Diabetics with and without Macular Edema

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
LakshmiPriya Rangaraju ◽  
Xuejuan Jiang ◽  
J. Jason McAnany ◽  
Michael R. Tan ◽  
Justin Wanek ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Macular Edema ◽  
Layer Thickness ◽  
Pigment Epithelium ◽  
Outer Nuclear Layer ◽  
Retinal Pigment ◽  
Plexiform Layer ◽  
Retinal Layer ◽  
Inner Plexiform Layer ◽  
Retinal Microvasculature

Purpose. Diabetes is known to cause alterations in retinal microvasculature and tissue that progressively lead to visual impairment. Optical coherence tomography (OCT) is useful for assessment of total retinal thickening due to diabetic macular edema (DME). In the current study, we determined associations between visual acuity (VA) and retinal layer thickness, reflectance, and interface disruption derived from enface OCT images in subjects with and without DME. Materials and Methods. Best corrected VA was measured and high-density OCT volume scans were acquired in 149 diabetic subjects. A previously established image segmentation method identified retinal layer interfaces and locations of visually indiscernible (disrupted) interfaces. Enface thickness maps and reflectance images of the nerve fiber layer (NFL), combined ganglion cell and inner plexiform layer (GCLIPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), photoreceptor outer segment layer (OSL), and retinal pigment epithelium (RPE) were generated in the central macular subfield. The associations among VA and retinal layer metrics were determined by multivariate linear regressions after adjusting for covariates (age, sex, race, HbA1c, diabetes type, and duration) and correcting for multiple comparisons. Results. In DME subjects, increased GCLIPL and OPL thickness and decreased OSL thickness were associated with reduced VA. Furthermore, increased NFL reflectance and decreased OSL reflectance were associated with reduced VA. Additionally, increased areas of INL and ONL interface disruptions were associated with reduced VA. In subjects without DME, increased INL thickness was associated with reduced VA, whereas in subjects without DME but with previous antivascular endothelium growth factor treatment, thickening of OPL was associated with reduced VA. Conclusions. Alterations in retinal layer thickness and reflectance metrics derived from enface OCT images were associated with reduced VA with and without presence of DME, suggestive of their potential for monitoring development, progression, and treatment of DME.

Choroideremia

2021 ◽  
pp. 213-217
Keyword(s):  
Stem Cells ◽  
Gene Therapy ◽  
Visual Acuity ◽  
Retinal Pigment Epithelium ◽  
Small Molecules ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Prosthesis ◽  
Progressive Reduction ◽  
Progressive Degeneration

Choroideremia is X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE), and retina. The disease is caused by mutations in the CHM gene which is known to be related to membrane transportation protein in the retina and RPE. Male-affected cases have nyctalopia and progressive reduction in visual acuity. Female-affected cases are carriers. This disease is considered incurable, although new promising treatments have been recently introduced such as gene therapy, stem cells, small molecules, and retinal prosthesis.

Induction of Retinal Degeneration in Cats by Methylnitrosourea and Ketamine Hydrochloride

1981 ◽  
Vol 18 (2) ◽  
pp. 239-247 ◽  
Author(s):  
J. P. Schaller ◽  
M. Wyman ◽  
S. E. Weisbrode ◽  
R. G. Olsen
Keyword(s):  
Visual Impairment ◽  
Retinal Degeneration ◽  
White Light ◽  
Outer Nuclear Layer ◽  
Leukemia Virus ◽  
Feline Leukemia Virus ◽  
Histologic Examination ◽  
Rods And Cones ◽  
Ketamine Hydrochloride ◽  
Histologic Changes

Persistent mydriasis seen in cats used in an oncology study apparently was not related to neoplasia. Opthalmoscopically, the cats had severely atrophic retinas and clinically observable visual impairment. These findings were confirmed by electroretinographic and histologic examination. Cats with these retinal lesions had received combinations of methylnitrosourea, ketamine hydrochloride, and feline leukemia virus. Retinopathy was not seen in ketamine-anesthetized cats receiving feline leukemia virus. To test the nature of this phenomenon, four cats were given both drugs and three received methylnitrosourea alone. The four cats developed severe generalized retinal degeneration by day 5, whereas the three cats given methylnitrosourea alone had normal retinas. Histologic changes in the affected cats were extensive loss of rods and cones, and of the outer nuclear layer. The electroretinographic responses to white light were depressed or extinguished. Retinal degeneration, therefore, appeared to be dependent upon administration of both methylnitrosourea and ketamine hydrochloride.

scholarly journals Establishment of a Rapid Lesion-Controllable Retinal Degeneration Monkey Model for Preclinical Stem Cell Therapy

Cells ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 2468
Author(s):  
Guanjie Gao ◽  
Liwen He ◽  
Shengxu Liu ◽  
Dandan Zheng ◽  
Xiaojing Song ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Therapy ◽  
Retinal Degeneration ◽  
Stem Cell Therapy ◽  
Structural Changes ◽  
Pigment Epithelium ◽  
Outer Nuclear Layer ◽  
Retinal Pigment ◽  
Functional Changes ◽  
Monkey Model

Background: Retinal degenerative disorders (RDs) are the main cause of blindness without curable treatment. Our previous studies have demonstrated that human-induced pluripotent stem cells can differentiate into retinal organoids with all subtypes of retina, which provides huge promise for treating these diseases. Before these methods can be realized, RD animal models are required to evaluate the safety and efficacy of stem cell therapy and to develop the surgical tools and procedures for cell transplantation in patients. This study involved the development of a monkey model of RD with controllable lesion sites, which can be rapidly prepared for the study of preclinical stem cell therapy among other applications. Methods: Sodium nitroprusside (SNP) in three doses was delivered into the monkey eye by subretinal injection (SI), and normal saline was applied as control. Structural and functional changes of the retinas were evaluated via multimodal imaging techniques and multifocal electroretinography (mfERG) before and after the treatment. Histological examination was performed to identify the target layer of the affected retina. The health status of monkeys was monitored during the experiment. Results: Well-defined lesions with various degrees of retinal degeneration were induced at the posterior pole of retina as early as 7 days after SNP SI. The damage of SNP was dose dependent. In general, 0.05 mM SNP caused mild structural changes in the retina; 0.1 mM SNP led to the loss of outer retinal layers, including the outer plexiform layer (OPL), outer nuclear layer (ONL), and retinal pigment epithelium (RPE); while 0.2 mM SNP impacted the entire layer of the retina and choroid. MfERG showed reduced amplitude in the damaged region. The structural and functional damages were not recovered at 7-month follow-up. Conclusion: A rapidly induced lesion site-controllable retinal degeneration monkey model was established by the subretinal administration of SNP, of which the optimal dose is 0.1 mM. This monkey model mimics the histological changes of advanced RDs and provides a valuable platform for preclinical assessment of stem cell therapy for RDs.

Effect of autologous growth factors on apoptosis and thickness of the outer nuclear layer in an experimental retinal degeneration model

2021 ◽  
pp. 1-12
Author(s):  
Emin Ozmert ◽  
Sibel Demirel ◽  
Umut Arslan ◽  
Özlem Biçer ◽  
Ozan Ahlat ◽  
...  
Keyword(s):  
Growth Factors ◽  
Retinal Degeneration ◽  
Outer Nuclear Layer

scholarly journals Nutraceutical Supplementation Ameliorates Visual Function, Retinal Degeneration, and Redox Status in rd10 Mice

Antioxidants ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1033
Author(s):  
Lorena Olivares-González ◽  
Sheyla Velasco ◽  
Isabel Campillo ◽  
David Salom ◽  
Emilio González-García ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Retinal Degeneration ◽  
Antioxidant Properties ◽  
Photoreceptor Cells ◽  
Redox Status ◽  
Inherited Retinal Dystrophies ◽  
Stress Markers ◽  
Retinal Dystrophies ◽  
Progressive Degeneration ◽  
Light Stimuli

Background: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of photoreceptor cells. Ocular redox status is altered in RP suggesting oxidative stress could contribute to their progression. In this study, we investigated the effect of a mixture of nutraceuticals with antioxidant properties (NUT) on retinal degeneration in rd10 mice, a model of RP. Methods: NUT was orally administered to rd10 mice from postnatal day (PD) 9 to PD18. At PD18 retinal function and morphology were examined by electroretinography (ERG) and histology including TUNEL assay, immunolabeling of microglia, Müller cells, and poly ADP ribose polymers. Retinal redox status was determined by measuring the activity of antioxidant enzymes and some oxidative stress markers. Gene expression of the cytokines IL-6, TNFα, and IL-1β was assessed by real-time PCR. Results: NUT treatment delayed the loss of photoreceptors in rd10 mice partially preserving their electrical responses to light stimuli. Moreover, it ameliorated redox status and reduced inflammation including microglia activation, upregulation of cytokines, reactive gliosis, and PARP overactivation. Conclusions: NUT ameliorated retinal functionality and morphology at early stages of RP in rd10 mice. This formulation could be useful as a neuroprotective approach for patients with RP in the future.

scholarly journals Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1421
Author(s):  
Yu-Chi Sung ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
Chao-Wen Lin ◽  
Ding-Siang Huang ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Medical Center ◽  
Fundus Autofluorescence ◽  
Genetic Diagnosis ◽  
Common Disease ◽  
Genetic Characteristics ◽  
Retinal Dystrophies ◽  
High Prevalence ◽  
Abca4 Gene

The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center. Fundus autofluorescence (FAF) images were quantified for clinical evaluation, and panel-based next-generation sequencing testing was performed for genetic diagnosis. Visual preservation, disease progression, and genotype–phenotype correlation were analyzed. In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. In each phenotype, the lesion areas quantified by FAF increased with age (p < 0.01) and correlated with poorer visual acuity. However, three patients had the foveal sparing phenotype and had relatively preserved visual acuity. Forty-two ABCA4 variants were identified as disease-causing, with c.1804C>T (p.Arg602Trp) the most frequent (37.84%). Patients with a combination of severe/null variants could have more extensive phenotypes, such as arRP and dispersed STGD1. This is the first cohort study of ABCA4-associated retinal degeneration in Taiwan with wide spectrums of both genotypic and phenotypic characteristics. An extremely high prevalence of c.1804C>T, which has not been reported in East Asia before, was noted. The extensiveness of retinal involvement might be regarded as a spectrum of ABCA4-associated retinal dystrophies. Different types of genetic variations could lead to distinctive phenotypes, according to the coding impact of variants.

scholarly journals Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
José L. Sánchez-Vicente ◽  
Miguel Contreras-Díaz ◽  
Trinidad Rueda ◽  
Enrique Rodríguez de la Rúa-Franch ◽  
Fredy E. Molina-Socola ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Pigment Epithelium ◽  
Epiretinal Membrane ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Spontaneous Resolution ◽  
Fundus Examination ◽  
Gorlin Syndrome ◽  
Clinical Context

Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS).Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS.Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period.Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA.

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