Retinitis Pigmentosa Cases Research Articles

Tocilizumab for cystoid macular edema secondary to retinitis pigmentosa

PurposeTo describe the effect of tocilizumab (TCZ) on cystoid macular edema (CME) and retinal vascular leakage (RVL) in retinitis pigmentosa (RP).MethodsRetrospective case series.ResultsWe present 2 cases of RP with marked inflammatory features in the form of CME and RVL. There was initial diagnostic uncertainty with posterior uveitis. Both patients were treated with corticosteroids, conventional disease-modifying antirheumatic drugs (cDMARDs), and biological DMARDs (bDMARDs) for the inflammatory features with partial and inconsistent treatment response. When treatment was switched to intravenous (IV) TCZ, dramatic reduction in CME and RVL were observed in both patients. Diagnosis of RP was eventually made based on findings of ancillary tests (macular spectral-domain optical coherence tomography, visual fields, full-field electroretinogram). Genetic testing led to a molecular diagnosis of EYS-related autosomal recessive RP in patient 1, while patient 2 had negative gene panel results.ConclusionsIV TCZ can be an effective treatment option in RP-related CME and RVL. Whether this treatment strategy has an effect on prognosis remains to be established, but it is possible considering chronic CME-related retinal damage is a major driver of central vision loss in RP.

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration

Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with RPGR-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with RPGR-associated retinal degeneration using two validated patient-reported outcome measures. Cross-sectional data of thirty-two genetically-tested patients was examined, including scores of the Michigan retinal degeneration questionnaire (MRDQ) and Michigan vision-related anxiety questionnaire. Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern. Both M and FM revealed higher rod-function and cone-function anxiety scores (p < 0.017). Most MRDQ disability scores were higher in M and FM (p < 0.004). Overall, positive correlations (p < 0.004) were found between every MRDQ domain and both anxiety scores. In RPGR-associated retinal degeneration, males and females with male phenotype show similar levels of increased vision-related anxiety and disability. Every MRDQ visual function domain showed a strong correlation with anxiety scores.

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.

Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and a major cause of blindness. RP is caused by several variants of multiple genes, and genetic diagnosis by identifying these variants is important for optimizing treatment and estimating patient prognosis. Next-generation sequencing (NGS), which is currently widely used for diagnosis, is considered useful but is known to have limitations in detecting copy number variations (CNVs). In this study, we re-evaluated CNVs in EYS, the main causative gene of RP, identified via NGS using multiplex ligation-dependent probe amplification (MLPA). CNVs were identified in NGS samples of eight patients. To identify potential CNVs, MLPA was also performed on samples from 42 patients who were undiagnosed by NGS but carried one of the five major pathogenic variants reported in Japanese EYS-RP cases. All suspected CNVs based on NGS data in the eight patients were confirmed via MLPA. CNVs were found in 2 of the 42 NGS-undiagnosed RP cases. Furthermore, results showed that 121 of the 661 patients with RP had EYS as the causative gene, and 8.3% (10/121 patients with EYS-RP) had CNVs. Although NGS using the CNV calling criteria utilized in this study failed to identify CNVs in two cases, no false-positive results were detected. Collectively, these findings suggest that NGS is useful for CNV detection during clinical diagnosis of RP.

Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation

Retinitis pigmentosa (RP), a heterogenous group of inherited retinal disorder, causes slow progressive vision loss with no effective treatments available. Mutations in the rhodopsin gene (RHO) account for ~25% cases of autosomal dominant RP (adRP). In this study, we describe the disease characteristics of the first-ever reported mono-allelic copy number variation (CNV) in RHO as a novel cause of adRP. We (a) show advanced retinal degeneration in a male patient (68 years of age) harboring four transcriptionally active intact copies of rhodopsin, (b) recapitulated the clinical phenotypes using retinal organoids, and (c) assessed the utilization of a small molecule, Photoregulin3 (PR3), as a clinically viable strategy to target and modify disease progression in RP patients associated with RHO-CNV. Patient retinal organoids showed photoreceptors dysgenesis, with rod photoreceptors displaying stunted outer segments with occasional elongated cilia-like projections (microscopy); increased RHO mRNA expression (quantitative real-time PCR [qRT-PCR] and bulk RNA sequencing); and elevated levels and mislocalization of rhodopsin protein (RHO) within the cell body of rod photoreceptors (western blotting and immunohistochemistry) over the extended (300 days) culture time period when compared against control organoids. Lastly, we utilized PR3 to target NR2E3, an upstream regulator of RHO, to alter RHO expression and observed a partial rescue of RHO protein localization from the cell body to the inner/outer segments of rod photoreceptors in patient organoids. These results provide a proof-of-principle for personalized medicine and suggest that RHO expression requires precise control. Taken together, this study supports the clinical data indicating that RHO-CNV associated adRPdevelops as a result of protein overexpression, thereby overloading the photoreceptor post-translational modification machinery.

Role of electrophysiological testing in the diagnosis of atypical retinitis pigmentosa

Retinitis pigmentosa (RP) is not a single entity but rather a disease spectrum. The classical triad of waxy disc pallor, bony spicules in the fundus, and arteriolar attenuation may not be found in all of the patients. In this series of seven atypical RP cases, we provide an overview of its varied clinical presentations and the role of electroretinogram in its diagnosis.

Bilateral angle closure glaucoma with retinitis pigmentosa in young patients: case series

BackgroundTo report the ocular characteristics and management of three cases of retinitis pigmentosa (RP) concurrent primary angle closure glaucoma (PACG).Case presentationThree middle-aged patients presenting with diminished vision, high intraocular pressure (IOP), and typical fundus manifestations of RP were clinically evaluated. The individualized treatment was based on the ocular conditions of each case. A novel genetic alteration in ZNF408 was identified in one patient. Two patients with short-axial eyes received unilateral combined trabeculectomy, cataract surgery, and Irido-zonulo-hyaloid-vitrectomy. One of them had a subluxated lens, managed with a capsular tension ring implantation. Their contralateral eyes, respectively, underwent laser peripheral iridotomy (LPI) and transscleral cyclophotocoagulation. The third patient underwent bilaterally combined laser peripheral iridoplasty, LPI, and medication. Ultimately, all patients achieved the target IOP during a two-year follow-up.ConclusionYoung patients with RP may have a risk of developing angle closure glaucoma, and conversely, patients with angle closure glaucoma at younger age should be aware of the presence of RP. Therefore, routine gonioscopy and IOP monitoring are required for RP patients, and detailed fundus examinations are warranted for young PACG patients.

Investigating the associations of macular edema in retinitis pigmentosa

Macular edema (ME), the accumulation of intraretinal fluid in the macula, is a common sight affecting sequelae of retinitis pigmentosa (RP). However, it is unclear why some patients develop ME, and others do not. This study aims to identify associations between clinical-genetic factors in RP with ME. Patients with clinically confirmed RP cases were identified from the inherited retinal disease database at a large tertiary referral academic center. Demographic and genetic testing findings were noted. Additionally, optical coherence tomography volume scans were graded using a validated grading system. One hundred and six patients (73.1%) were found to have ME in at least one eye (OD = 88, mean = 37.9%, OS = 98, mean = 31.7%). Structurally, the presence of epiretinal membrane (ERM) (p < 0.007) and vitreo-macular traction (VMT) (p < 0.003) were significantly associated with ME. Additionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated a significant association with ME, with RP1 (p < 0.045) and EYS (p < 0.017) pathogenic variants also significantly associated with ME. This study, in a large cohort of RP patients, confirms previous retinal structural associations for ME in RP and identifies potential new genetic associations.

Chromatic pupillometry isolation and evaluation of intrinsically photosensitive retinal ganglion cell-driven pupillary light response in patients with retinitis pigmentosa.

The pupil light response (PLR) is driven by rods, cones, and intrinsically photosensitive retinal ganglion cells (ipRGCs). We aimed to isolate ipRGC-driven pupil responses using chromatic pupillometry and to determine the effect of advanced retinitis pigmentosa (RP) on ipRGC function. A total of 100 eyes from 67 patients with advanced RP and 18 healthy controls (HCs) were included. Patients were divided into groups according to severity of visual impairment: no light perception (NLP, 9 eyes), light perception (LP, 19 eyes), faint form perception (FFP, 34 eyes), or form perception (FP, 38 eyes). Pupil responses to rod-weighted (487 nm, -1 log cd/m2, 1 s), cone-weighted (630 nm, 2 log cd/m2, 1 s), and ipRGC-weighted (487 nm, 2 log cd/m2, 1 s) stimuli were recorded. ipRGC function was evaluated by the postillumination pupil response (PIPR) and three metrics of pupil kinetics: maximal contraction velocity (MCV), contraction duration, and maximum dilation velocity (MDV). We found a slow, sustained PLR response to the ipRGC-weighted stimulus in most patients with NLP (8/9), but these patients had no detectable rod- or cone-driven PLR. The ipRGC-driven PLR had an MCV of 0.269 ± 0.150%/s and contraction duration of 2.562 ± 0.902 s, both of which were significantly lower than those of the rod and cone responses. The PIPRs of the RP groups did not decrease compared with those of the HCs group and were even enhanced in the LP group. At advanced stages, ipRGC responses gradually became the main component of the PLR. Chromatic pupillometry successfully isolated an ipRGC-driven PLR in patients with advanced RP. This PLR remained stable and gradually became the main driver of pupil contraction in more advanced cases of RP. Here, we present baseline data on ipRGC function; we expect these findings to contribute to evaluating and screening candidates for novel therapies.

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians. A clinical phenotyping and exome-sequencing study was conducted on consecutive patients with nonsyndromic RP. Epidemiological analysis was performed using Singaporean and global population-based genetic data. A study of 150 consecutive unrelated individuals with nonsyndromic RP found that 87 (58%) of cases had plausible genotypes. A previously described missense variant in the EYS gene, 6416G>A (C2139Y), occurred heterozygously or homozygously in 17 of 150 families (11.3%), all with autosomal recessive RP. Symptom onset in EYS C2139Y-related RP ranged from 6 to 45 years, with visual acuity ranging from 20/20 at 21 years to no light perception by 48 years. C2139Y-related RP had typical findings, including sectoral RP in cases with EYS E2703X in trans . The median age at presentation was 45 years and visual fields declined to less than 20° (Goldmann V4e isopter) by age 65 years. Intereye correlation for visual acuity, fields, and ellipsoid band width was high (r 2 = 0.77-0.95). Carrier prevalence was 0.66% (allele frequency of 0.33%) in Singaporean Chinese and 0.34% in East Asians, suggesting a global disease burden exceeding 10,000 individuals. The EYS C2139Y variant is common in Singaporean RP patients and other ethnic Chinese populations. Targeted molecular therapy for this single variant could potentially treat a significant proportion of RP cases worldwide.

Bilateral disk edema with retinitis pigmentosa: Diagnostic dilemma

Bilateral disk edema in a case of retinitis pigmentosa can cause diagnostic confusion and delay in treatment. Existing literature shows few such cases where inflammatory pathology is postulated. A battery of tests may be required to reach a definitive diagnosis. Here, we will report a case of retinitis pigmentosa with bilateral disk edema due to malignant hypertension. Even in the presence of high systemic blood pressure, diagnostic dilemma can occur in such cases due to overlapping clinical features like arterial attenuation, decreased vision due to optic atrophy, and macular edema. Hence, other differential diagnoses like inflammatory causes and intracranial pathology should be carefully ruled out.

Retinal degeneration in rpgra mutant zebrafish.

Introduction: Pathogenic mutations in RPGR ORF15, one of two major human RPGR isoforms, were responsible for most X-linked retinitis pigmentosa cases. Previous studies have shown that RPGR plays a critical role in ciliary protein transport. However, the precise mechanisms of disease triggered by RPGR ORF15 mutations have yet to be clearly defined. There are two homologous genes in zebrafish, rpgra and rpgrb. Zebrafish rpgra has a single transcript homologous to human RPGR ORF15; rpgrb has two major transcripts: rpgrb ex1-17 and rpgrb ORF15, similar to human RPGR ex1-19 and RPGR ORF15, respectively. rpgrb knockdown in zebrafish resulted in both abnormal development and increased cell death in the dysplastic retina. However, the impact of knocking down rpgra in zebrafish remains undetermined. Here, we constructed a rpgra mutant zebrafish model to investigate the retina defect and related molecular mechanism. Methods: we utilized transcription activator-like effector nuclease (TALEN) to generate a rpgra mutant zebrafish. Western blot was used to determine protein expression. RT-PCR was used to quantify gene transcription levels. The visual function of embryonic zebrafish was detected by electroretinography. Immunohistochemistry was used to observe the pathological changes in the retina of mutant zebrafish and transmission electron microscope was employed to view subcellular structure of photoreceptor cells. Results: A homozygous rpgra mutant zebrafish with c.1675_1678delins21 mutation was successfully constructed. Despite the normal morphological development of the retina at 5 days post-fertilization, visual dysfunction was observed in the mutant zebrafish. Further histological and immunofluorescence assays indicated that rpgra mutant zebrafish retina photoreceptors progressively began to degenerate at 3-6 months. Additionally, the mislocalization of cone outer segment proteins (Opn1lw and Gnb3) and the accumulation of vacuole-like structures around the connecting cilium below the OSs were observed in mutant zebrafish. Furthermore, Rab8a, a key regulator of opsin-carrier vesicle trafficking, exhibited decreased expression and evident mislocalization in mutant zebrafish. Discussion: This study generated a novel rpgra mutant zebrafish model, which showed retinal degeneration. our data suggested Rpgra is necessary for the ciliary transport of cone-associated proteins, and further investigation is required to determine its function in rods. The rpgra mutant zebrafish constructed in this study may help us gain a better understanding of the molecular mechanism of retinal degeneration caused by RPGR ORF15 mutation and find some useful treatment in the future.

A case study on Doshantha (Retinitis Pigmentosa) with Ayurvedic management

Retinitis pigmentosa (RP) is a group of hereditary disorders of the photoreceptors and retinal pigment epithelium (RPE) which gradually causes night blindness and progressive constriction of the visual field. RP is a leading cause of visual disability, with a worldwide pre-valence of 1:4000. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction. Symptoms may become manifest during childhood or adulthood, and include poor night vision (nyctalopia) and constriction of peripheral vision (visual field loss).[1] In Ayurveda, the signs and symptoms of this can be compared with the Lakshanas of Doshandha. The present paper discusses a case of retinitis pigmentosa and its Ayurvedic treatment.

Retinitis pigmentosa with acute central serous chorioretinopathy with pachychoroid phenotype

We report a case of retinitis pigmentosa (RP) coexisting with acute central serous chorioretinopathy (CSCR) with pachychoroid phenotype. A 37-year-old male showed clinical features of RP in both eyes with acute CSCR in the right eye. Fundus fluorescein angiography showed ink blot hyperfluorescence with focal leakage, which was successfully treated with focal laser. Both eyes showed features of pachychoroid. RP and CSCR occurring simultaneously is very rare and there are only a few reports published in literature, but none with pachychoroid features. We report the first case of RP with acute CSR with pachychoroid phenotype and comment on its treatment outcome.

Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.

To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome. Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained. The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like "bone spicules" in the middle periphery. Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene. The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter's syndrome.

Considerations for the management of low vision in retinitis pigmentosa with tunnel vision: A case series

AbstractPurpose: This study discusses considerations for the management of low vision in retinitis pigmentosa patients with tunnel vision.Methods: Diagnoses were based on history taking, anterior segment examination, retinal examination with 78D indirect ophthalmoscope, and ancillary testing. Baseline central macular thickness was measured with spectral‐domain optical coherence tomography (Zeiss Cirrus HD‐OCT 5000). The visual field was measured with the Humphrey field analyser. The retina's electrical activity was measured with an electroretinogram (ERG). Contrast sensitivity was measured with the Pelli‐Robson chart.Results: We discuss three cases of retinitis pigmentosa: An 18‐year‐old male, a 26‐year‐old female, and a 47‐year‐old male with bilateral RP and CME. The diagnosis of RP was based on the clinical features of night‐blindness, narrowing visual field, with characteristic funduscopic findings, which are arteriole attenuation, waxy disc pallor, and “bone spicule” appearance. All three cases indicated tunnel vision and a decrease in scotopic response of ERG results. Decreased photopic response was shown in the second and third case. Decreased contrast sensitivity was found in all cases, especially in the third case. Although all cases showed CME in OCT findings, only the third case had visual acuity less than 6/6 and was treated with spectacles. The management of tunnel vision in all of the cases comprises best visual acuity correction, orientation and mobility (O&amp;M) training, and Trifield glasses, if available.Conclusions: Tunnel vision in patients with RP considered a low‐vision aid (Trifield glasses) with an O&amp;M training to extend their visual field. In the RP‐CME, patient whose visual acuity is less than 6/6 binocularly was given spectacles alongside with therapy for CME secondary to RP.

Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)

Motivation.Next-generation sequencing (NGS) technologies are decisive for discovering disease-causing variants, although their cost limits their utility in a clinical setting. A cost-mitigating alternative is an extremely low coverage whole-genome sequencing (XLC-WGS). We investigated its use to identify causal variants within a multi-generational pedigree of individuals with retinitis pigmentosa (RP). Causing progressive vision loss, RP is a group of genetically heterogeneous eye disorders with approximately 60 known causal genes. ResultsWe performed XLC-WGS in seventeen members of this pedigree, including three individuals with a confirmed diagnosis of RP. Sequencing data were processed using Illumina's DRAGEN pipeline and filtered using Illumina's genotype quality score metric (GQX). The resulting variants were analyzed using Expert Variant Interpreter (eVai) from enGenome as a prioritization tool. A nonsense known mutation (c.1625C > G; p.Ser542*) in exon 4 of the RP1 gene emerged as the most likely causal variant. We identified two homozygous carriers of this variant among the three sequenced RP cases and three heterozygous individuals with sufficient coverage of the RP1 locus. Our data show the utility of combining pedigree information with XLC-WGS as a cost-effective approach to identify disease-causing variants.

Genetic dissection of non-syndromic retinitis pigmentosa.

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most common form of inherited retinal dystrophy, characterized by progressive degradation of photoreceptors that leads to nyctalopia, and ultimately, complete vision loss. RP is distinguished by the continuous retinal degeneration that progresses from the mid-periphery to the central and peripheral retina. RP was first described and named by Franciscus Cornelius Donders in the year 1857. It is one of the leading causes of bilateral blindness in adults, with an incidence of 1 in 3000 people worldwide. In this review, we are going to focus on the genetic heterogeneity of this disease, which is provided by various inheritance patterns, numerosity of variations and inter-/intra-familial variations based upon penetrance and expressivity. Although over 90 genes have been identified in RP patients, the genetic cause of approximately 50% of RP cases remains unknown. Heterogeneity of RP makes it an extremely complicated ocular impairment. It is so complicated that it is known as “fever of unknown origin”. For prognosis and proper management of the disease, it is necessary to understand its genetic heterogeneity so that each phenotype related to the various genetic variations could be treated.

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

BackgroundNext‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease‐causing mutations in 16 Bulgarian patients with different IRDs.MethodsWe applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies.ResultsSystematic filtering approach coupled with copy number variation analysis and segregation study lead to the identification of 16 pathogenic and likely pathogenic variants in 12/16 (75%) of IRD patients, 2 of which novel (12.5%): ABCA4‐c.668delA (p.K223Rfs18) and RР1‐c.2015dupA (p.K673Efs*25). Mutations in the ABCA4, PRPH2, USH2A, BEST1, RР1, CDHR1, and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone‐rod dystrophy patients.ConclusionOur results confirm the usefulness of targeted NGS approach based on frequently mutated genes as a comprehensive and successful genetic diagnostic tool for IRDs with significant impact on patients counseling.

A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa

Abstract: Retinitis pigmentosa (RP) is a group of inherited rod-cone degenerative pathologies that present clinically with similar signs and symptoms. Common fundus findings include bone-spicule pigment formation, attenuated blood vessels in the posterior pole and waxy optic nerve pallor. Symptoms mostly start with progressive night blindness, mid-peripheral visual field defects, and eventual tunnel vision. A 42 year old male patient, typist by profession presented to our clinic with complaints of decreased vision and reduced dark adaptation affecting his quality of life a lot. On examination, he was diagnosed as an advanced case of retinitis pigmentosa bilaterally and there was bilateral posterior sub capsular cataract. His quality of life was assessed by using a simplified version of the VFQ-25 questionnaire. After successful cataract surgery and low vision rehabilitation his quality of life was reassessed by using same questionnaire. He had a much more positive outlook towards his eyesight. Our case report reviews the life changing personalized low vision rehabilitation of a typist with retinitis pigmentosa.&#x0D; Key words: retinitis pigmentosa, quality of life, low vision rehabilitation&#x0D;

Prevalence of Retinitis Pigmentosa in a Tertiary Eye Hospital of Nepal.

Retinitis Pigmentosa (RP) is a group of diffuse retinal degenerative diseases predominantly affecting the rod and cone photoreceptors. The prevalence of retinitis pigmentosa seen in literature is approximately 1:4000. Retinitis Pigmentosa is one of the the most common causes of blindness in the age group of 20 to 40 years. The objective of this study was to determine the profile of retinitis pigmentosa in Terai and Nepal-India border region considering patients seeking care at a Tertiary level Eye Hospital in the terai region (southern part) of Nepal. A hospital-based, retrospective study was carried out at R. M. Kedia Eye Hospital. A total of 385 (83 males and 107 females from Nepal and 109 males and 86 females from India) diagnosed patients of Retinitis Pigmentosa were included in the study. Data was collected over a period of eleven years from 2008-2018. Out of 385 diagnosed Retinitis Pigmentosa patients, 192 (49.87%) were male and 193 (50.13%) were female with slightly female predominance. The prevalence of RP seen in our study was 0.03%. About 51% of the patients visited here were from India and nearby border areas/ villages which cover most of the rural areas of India. In this study it was found that 49.34% of the RP cases were from Nepal, of which 43.63% of cases were from Hindu community and 5.71% from Muslim community and about 50.66% cases of RP were from India, of which 37.67% from Hindu and 12.98% from Muslim community. The peak age of presentation of RP was at 30-39 years (29.09%), followed by 20-29 years (26.75%). The common marriage pattern of consanguinity was found in Muslim community in between the first cousins. In this study the hospital record did not show any evaluation for the syndromic disease in the hospital record, though RP is usually non syndromic and there are literatures where many syndromic forms have been identified. The prevalence of RP seen in the study was 0.03% (A total of 1101299 sample population of which 385 patients had RP). Since RP is an inherited disease and is one of the non-treatable causes of blindness which runs in the families, a role of counseling to reduce consanguineous marriages should be brought forward to reduce the disease process.