Cause Of Severe Visual Impairment Research Articles

Characterizing autoimmune uveitis to systemic diseases: A retrospective study from a Syrian tertiary reference center

Background: Uveitis, a notable cause of severe visual impairment, is frequently characterized as infectious or non-infectious autoimmune uveitis (AU), the latter of which is commonly associated with younger individuals and systemic diseases. Despite the condition’s widespread impact, there are substantial gaps in the comprehension of its pathogenesis, clinical presentation, and therapeutic response, particularly concerning systemic disease-associated uveitis. Aim of the Study: The current study aims to bridge these gaps through an extensive examination of demographic and clinical features in AU patients, thereby informing future research, and therapeutic strategies, and improving patient outcomes. Methods: This retrospective observational study analyzed 261 patients with systemic disease-associated uveitis from January 2018 to December 2022 in Damascus, Syria. With diagnoses made using the Standardization of Uveitis Nomenclature Working Group Criteria, the study evaluated tailored treatment efficacy at the 24-month post-treatment mark, alongside comprehensive ophthalmic examinations, laboratory evaluations, and radiographic assessments. Results: In our study included 87 patients with Systemic Disease-Associated Autoimmune Uveitis (SDA-AU). Women represented 64.36% of this group, and the mean age at diagnosis was 39.8 ± 17.9 years (range 7–71) for men and 43.8 ±15.4 years (range 11–69). The most reported symptom was a painful red eye (52.87%). The onset of symptoms was sudden for 32.18% of patients, while 67.81% reported gradual development. Complications occurred in 33.33% of patients, including cataracts (41.37% of those with complications) and glaucoma (17.24%). Laboratory evaluations showed elevated inflammation markers in 66.66% of patients. Upon the 24-month assessment, 48.27% of patients achieved complete remission, 37.93% showed significant improvement, while disease worsened in 13.79% of cases. Conclusion: Our findings demonstrated that the presentation of autoimmune uveitis in this cohort frequently precedes the diagnosis of systemic diseases, affirming the vital role of an early and accurate diagnosis of uveitis for the detection of underlying systemic conditions. In conclusion, our study underlines the significance of a comprehensive and multidisciplinary approach in the management of SD-AU, leading to improved prognosis and quality of life for patients.

Retinopathy of prematurity as а cause of severe visual impairment and blindness among students from the Prof. Dr. Ivan Shishmanov Specialized School Students with Visual Impairment in Varna

Retinopathy of prematurity as а cause of severe visual impairment and blindness among students from the Prof. Dr. Ivan Shishmanov Specialized School Students with Visual Impairment in Varna

Immunomodulatory and Antioxidant Drugs in Glaucoma Treatment.

Glaucoma, a group of diseases characterized by progressive retinal ganglion cell loss, cupping of the optic disc, and a typical pattern of visual field defects, is a leading cause of severe visual impairment and blindness worldwide. Elevated intraocular pressure (IOP) is the leading risk factor for glaucoma development. However, glaucoma can also develop at normal pressure levels. An increased susceptibility of retinal ganglion cells to IOP, systemic vascular dysregulation, endothelial dysfunction, and autoimmune imbalances have been suggested as playing a role in the pathophysiology of normal-tension glaucoma. Since inflammation and oxidative stress play a role in all forms of glaucoma, the goal of this review article is to present an overview of the inflammatory and pro-oxidant mechanisms in the pathophysiology of glaucoma and to discuss immunomodulatory and antioxidant treatment approaches.

How latanoprost changed glaucoma management.

Glaucoma is currently considered one of the leading causes of severe visual impairment and blindness worldwide. Topical medical therapy represents the treatment of choice for many glaucoma patients. Introduction of latanoprost, 25 years ago, with an entirely new mechanism of action from that of the antiglaucoma drugs used up to that time was a very important milestone. Since then, due mainly to their efficacy, limited systemic side effects and once daily dosing, prostaglandin analogues (PGAs) have become as the first-choice treatment for primary open-angle glaucoma. PGAs are in general terms well tolerated, although they are associated with several mild to moderate ocular and periocular adverse events. Among them, conjunctival hyperemia, eyelash changes, eyelid pigmentation, iris pigmentation and hypertrichosis around the eyes are the most prevalent. The objective of this paper is to review the role of PGAs in the treatment of glaucoma over the 25 years since the launch of Latanoprost and their impact on clinical practice outcomes.

Electrospun mini-MiSp spidroin/poly(L-lactide-co-ε-caprolactone) nanofibrous scaffolds for ARPE-19 cells

Age-related macular degeneration, a type of retinal degenerative disease, is the primary cause of severe visual impairment and irreversible blindness in people older than 50, due to age-related deterioration of the photoreceptors and the retinal pigment epithelium (RPE), which could be restored by cell therapy. However, the success of cell therapy depends on biocompatible scaffolds, which serve as carriers for the growth of RPE cells for repairing damaged or diseased retinas. In this study, the plasmid pET-SUMO-R2C for expressing a mini-spidroin, fusing the second repetitive region to the C-terminal domain of the minor ampullate spidroin gene from the spider Araneus ventricosus, was constructed and named R2C. The spidroin R2C was expressed, purified and wet spun into silk-like fibers, possessing a Young’s modulus of 3.51 ± 0.92 GPa and toughness of 24.67 ± 9.51 MPa. The spidroin R2C, mixed with poly(L-lactide-co-ε-caprolactone) (PLCL) at a ratio of 3:1, was electrospun into nanofibrous scaffolds, composed of nanometric fibers with a diameter of 751.70 ± 19.48 nm. After co-culturing with the R2C/PLCL scaffolds, the transcriptomic differences of the ARPE-19 cells were analyzed, showing that fourteen genes that are mainly related to inflammation, tumors and keratinization were upregulated more than three times, while seven genes that are mostly related to substance transport and homeostasis were downregulated more than three times. The R2C/PLCL scaffolds have the potential to be further studied to serve as a suitable carrier for RPE transplantation in the future.

Late sequelae of retinopathy of prematurity in infancy

Retinopathy of prematurity (ROP) is one of the most frequent causes of severe visual impairment or blindness in childhood and can lead to severe late complications in children even after the initial disease has resolved. The present study summarizes possible late effects in childhood after treated and untreated ROP. Aspecial focus is on the development of myopia, retinal detachment, as well as neurological and pulmonary development after anti-vascular endothelial growth factor (VEGF) treatment. This work is based on aselective literature search on late effects in childhood of treated or untreated ROP. Preterm infants have an increased risk of developing high-grade myopia. Interestingly, several studies indicate that the risk of myopia is reduced following anti-VEGF treatment. With anti-VEGF treatment, however, late recurrences after initial response are possible even after several months, making long-term and frequent follow-up examinations essential. Controversy exists regarding the possible negative effects of anti-VEGF treatment on neurological and pulmonary development. After both treated and untreated ROP, rhegmatogenous, tractional or exudative retinal detachment, vitreous hemorrhage, high myopia and strabismus are possible late complications. Children with ahistory of ROP with or without treatment have an increased risk for late ocular sequelae, such as high myopia, retinal detachment, vitreous hemorrhage and strabismus. Aseamless transition from ROP screening to pediatric and ophthalmological follow-up care is therefore essential for timely detection and treatment of possible refractive errors, strabismus, or other amblyogenic changes.

Performances of artificial intelligence in detecting pathologic myopia: a systematic review and meta-analysis.

Pathologic myopia (PM) is a major cause of severe visual impairment and blindness, and current applications of artificial intelligence (AI) have covered the diagnosis and classification of PM. This meta-analysis and systematic review aimed to evaluate the overall performance of AI-based models in detecting PM and related complications. We searched PubMed, Scopus, Embase, Web of Science and IEEE Xplore for eligible studies before Dec 20, 2022. The methodological quality of included studies was evaluated using the Quality Assessment for Diagnostic Accuracy Studies (QUADAS-2). We calculated the pooled sensitivity (SEN), specificity (SPE) and the summary area under the curve (AUC) using a random effects model, to evaluate the performance of AI in the detection of PM based on fundus or optical coherence tomography (OCT) images. 22 studies were included in the systematic review, and 14 of them were included in the quantitative analysis. Of all included studies, SEN and SPE ranged from 80.0% to 98.7% and from 79.5% to 100.0% for PM detection, respectively. For the detection of PM, the summary AUC was 0.99 (95% confidence interval (CI) 0.97 to 0.99), and the pooled SEN and SPE were 0.95 (95% CI 0.92 to 0.96) and 0.97 (95% CI: 0.94 to 0.98), respectively. For the detection of PM-related choroid neovascularization (CNV), the summary AUC was 0.99 (95% CI: 0.97 to 0.99). Our review demonstrated the excellent performance of current AI algorithms in detecting PM and related complications based on fundus and OCT images.

The Roles of Vitamin D and Polyphenols in the Management of Age-Related Macular Degeneration: A Narrative Review

Age-related macular degeneration (AMD) is a chronic progressive ocular disease and the main cause of severe visual impairment in the elderly. Vitamin D deficiency may be a risk factor for AMD. Additionally, current evidence suggests dietary advice of increasing consumption of polyphenols, which may have antioxidant and anti-inflammatory properties. The aim of this review was to describe the roles of vitamin D levels and polyphenols in the management of AMD. The results of this review showed mixed evidence regarding the protective effect of vitamin D against AMD. Polyphenols (flavonoids group, curcumin and resveratrol) seem to play an important role as angiogenesis inhibitors, but their effect on AMD is still unclear. Vitamin D and polyphenols may both play an important role as nutritional modifiable protective factors that reduce the risk of AMD progression. However, more research is necessary to better understand the roles of vitamin D and polyphenols in different stages of the disease.

Distribution and causes of blindness and severe visual impairment in children at a tertiary referral centre in Rwanda

AimTo determine the prevalence and the causes of severe visual impairment and blindness (SVI/BL) in children at a tertiary referral centre in Rwanda.MethodsIn this retrospective study, files of all patients...

Deletion of Tgfβ signal in activated microglia prolongs hypoxia-induced retinal neovascularization enhancing Igf1 expression and retinal leukostasis.

Retinal neovascularization (NV) is the major cause of severe visual impairment in patients with ischemic eye diseases. While it is known that retinal microglia contribute to both physiological and pathological angiogenesis, the molecular mechanisms by which these glia regulate pathological NV have not been fully elucidated. In this study, we utilized a retinal microglia‐specific Transforming Growth Factor‐β (Tgfβ) receptor knock out mouse model and human iPSC‐derived microglia to examine the role of Tgfβ signaling in activated microglia during retinal NV. Using a tamoxifen‐inducible, microglia‐specific Tgfβ receptor type 2 (Tgfβr2) knockout mouse [Tgfβr2 KO (ΔMG)] we show that Tgfβ signaling in microglia actively represses leukostasis in retinal vessels. Furthermore, we show that Tgfβ signaling represses expression of the pro‐angiogenic factor, Insulin‐like growth factor 1 (Igf1), independent of Vegf regulation. Using the mouse model of oxygen‐induced retinopathy (OIR) we show that Tgfβ signaling in activated microglia plays a role in hypoxia‐induced NV where a loss in Tgfβ signaling microglia exacerbates and prolongs retinal NV in OIR. Using human iPSC‐derived microglia cells in an in vitro assay, we validate the role of Transforming Growth Factor‐β1 (Tgfβ1) in regulating Igf1 expression in hypoxic conditions. Finally, we show that Tgfβ signaling in microglia is essential for microglial homeostasis and that the disruption of Tgfβ signaling in microglia exacerbates retinal NV in OIR by promoting leukostasis and Igf1 expression.

Proteome Analysis of Urinary Biomarkers in a Bovine IRBP-Induced Uveitis Rat Model via Data-Independent Acquisition and Parallel Reaction Monitoring Proteomics.

Uveitis, a group of intraocular inflammatory diseases, is one of the major causes of severe visual impairment among the working-age population. This study aimed to screen potential urinary biomarkers for uveitis based on proteome analysis. An experimental autoimmune uveitis (EAU) rat model induced by bovine interphotoreceptor retinoid-binding protein (IRBP) was used to mimic uveitis. In discovery phase, a total of 704 urinary proteins were identified via data-independent acquisition (DIA) proteomic technique, of which 76 were significantly changed (34, 36, and 37 on days 5, 8, and 12, respectively, after bovine IRBP immunization). Gene Ontology annotation of the differential proteins indicates that acute-phase response, innate immune response, neutrophil aggregation, and chronic inflammatory response were significantly enriched. Protein-protein interaction network indicates that these differential urinary proteins were biologically connected in EAU, as a group. In validation phase, 17 proteins having human orthologs were verified as the potential markers associated with uveitis by parallel reaction monitoring (PRM) targeted quantitative analysis. Twelve differential proteins changed even when there were no clinical manifestations or histopathological ocular damage. These 12 proteins are potential biomarkers for early diagnosis of uveitis to prevent the development of visual impairment. Five differential proteins changed at three time-points and showed progressive changes as the uveitis progressed, and another five differential proteins changed only on day 12 when EAU severity peaked. These 10 proteins may serve as potential biomarkers for prognostic evaluation of uveitis. Our findings revealed that the urinary proteome could sensitively reflect dynamic pathophysiological changes in EAU, and represent the first step towards the application of urinary protein biomarkers for uveitis.

CAUSES OF BLINDNESS AND VISUAL IMPAIRMENT AMONG STUDENTS IN INTEGRATED SCHOOL FOR THE BLIND IN BIKANER

Objective: The study was undertaken to find out the causes of blindness and visual impairment among students in integrated schools for the blind in Bikaner city of Rajasthan. Methods: A observational study was conducted in the only blind school of Bikaner city. The understudies in the visually impaired school visited were remembered for the review and informed assents from guardians were gotten. Pertinent visual history and essential visual assessments were completed on the understudies of the visually impaired school. Results: A total of 81 students were examined in school of the blind in Bikaner. The main causes of severe visual impairment and blindness in the better eye of students were microphthalmos (25.92%), corneal scar (20.98%), phthisis bulbi (16.04%), retinal dystrophy (8.64%), optic nerve atrophy (8.64%), buphthalmos/glaucoma (6.17%), amblyopia (3.7%), staphyloma (3.7%), cataract (1.23%), anophthalmos (1.23%), aphakia (1.23%), coloboma (1.23%), retinal detachment (1.23%), etc. Of these, 11 (13.58%) students had preventable causes of blindness. Conclusion: It was observed that inherited infections, corneal scar, glaucoma, and waterfall were the conspicuous reasons for visual impairment among the understudies of visually impaired school. Practically, 13.58% of the students had preventable causes, demonstrating the need of genetical directing and centered intercession.

Progression to severe visual impairment and blindness in POAG patients: pace and risk factors—a cohort study using German health claims data

ObjectiveGlaucoma is a leading cause of severe visual impairment and blindness (SVI/B) worldwide. Hence, it is of utmost importance to explore relevant risk factors and study the pace of progression...

Visual impairment and blindness among children from schools for the blind in Maharashtra state, India: Changing trends over the last decade.

Purpose:To determine the causes of severe visual impairment and blindness in children in schools for the blind in Maharashtra, India.Methods:Children aged <16 years, enrolled in the schools for the blind in Maharashtra state, India were examined between October 2018 and December 2019. The anatomical sites and etiology for blindness were recorded using the World Health Organization’s standard reporting form. Causes of blindness were compared among different regions of the state and also by different age groups.Results:Of the 1,969 students examined from 39 schools for the blind, 188 children (9.5%) had severe visual impairment and 1,666 children (84.6%) were blind. Whole globe anomalies (794, 42.8%) were the most common anatomical site of vision loss in children, followed by corneal (289, 15.6%) and retinal abnormalities (280, 15.2%). Corneal causes were second most common in the poorer districts of Vidarbha (15.3%) and Marathwada (14.6%), whereas retinal causes were second most common in the wealthier regions of western Maharashtra (18.3%) and Khandesh (24.1%). Nearly one-third (593, 32%) of children were blind from potentially avoidable causes. Preventable blindness consisting of corneal causes and retinopathy of prematurity was seen in 281 (15.2%) cases, whereas treatable causes comprising of lens-related causes, glaucomas, refractive errors, amblyopia, and uveitis accounted for another 311 (16.8%). Among the younger children (≤10 years), the proportion of corneal blindness was lower (83/623, 13.3% vs. 206/1232, 16.7%) and that of retinal blindness was higher (119/623, 19% vs. 163/1232, 13.2%) than the older children.Conclusion:Whole globe anomalies constitute a major cause of SVI and blindness in Maharashtra. There seems to be an increase in the proportion of retinal blindness, especially retinopathy of prematurity, suggesting a need for increased screening coverage.

Ocular manifestations in children with developmental delay in an eye hospital of northern Bangladesh

Background: The aim of this study was to identify common ocular manifestations in children with developmental delay in an eye hospital of northern part of Bangladesh.Methods: It was a retrospective medical record review of children with developmental delay who attended the pediatric ophthalmology department in an eye hospital from January 2019 to December 2019. Data were collected for their age, gender, past medical history, ophthalmic examination findings and systemic problems. Ophthalmic examination included examination of lid and adnexa, anterior and posterior segment examination and assessment of squint and refraction.Results: Medical records of 102 with developmental delay were identified and studied (59 boys and 43 girls, mean age 1.57 years, 53.9% aged &lt;1 year). Of these children, 44 (43.1%) were referred by the pediatricians. The most common past medical histories were perinatal asphyxia (42.2%), history of convulsion (30.4%), neonatal seizures (9.8%) and history of speech delay (1%). On ophthalmic examination, 30 (29.5%) had poor vision, 20 (19.6%) had refractive error, 23 (22.5%) had Strabismus and 11 (10.8%) had nystagmus. Optic atrophy was also observed among 11 children (10.8%).Conclusions: Ocular manifestations are commonly seen in children with developmental delay which can be cause of severe visual impairment and overall disability in later life. Hence an early ophthalmologic screening and intervention in these children by developing good referral network between ophthalmologist and pediatricians can help to substantially improve the developmental and academic achievement.

21 Long-Term Ophthalmologic Outcome of Young Adults Born Extremely Preterm

Abstract Primary Subject area Ophthalmology Background Retinopathy of prematurity (ROP) remains the dominant cause of severe visual impairment in childhood in North America and Europe. With the salient improvement in neonatal care since the 1980s, more and more very/extremely premature infants survived and are now reaching adulthood. Premature birth interferes with the critical period of retinal maturation and foveal development. The development of ROP further damages the retina and its vasculature. So far, outcome studies on visual functions and ocular structure in adults born preterm remain scarce. Objectives The first aim of this study is to describe the visual function and retinal structure in a cohort of young adults who were born prematurely. With the recognition of the insidious nature of ROP, we also aimed to investigate if ROP could exert a “second hit” beyond prematurity. Design/Methods This cross-sectional observational study compared visual function of young adults (18-29 years old) born prematurely (&amp;lt; 30 weeks of gestational age [GA]) versus full-term controls. Participants were categorized into three groups: preterm without ROP, preterm with ROP, and term. Comprehensive ophthalmologic examination was performed with blinding to preterm and ROP status. Best corrected visual acuity (BCVA) was assessed with a standardized linear Snellen chart and contrast sensitivity (CS) with the Vistech system. When analyzing BCVA, refractive errors, and contrast sensitivities, we further grouped data based on the strong eyes (better BCVA) and the weak eyes (worse BCVA). Area-under-the-curve (AUC) analysis was performed to gauge the overall CS. Group comparisons were done using ANOVA. Results In this study, 88 individuals born prematurely and 86 individuals born full-term were recruited. Among the strong eyes of the 3 groups, there was no significant difference for BCVA or refractive errors (see image). Among the weak eyes, the preterm with ROP group had the worst BCVA and refractive outcomes, compared to the preterm without ROP and term groups. In the strong eyes, the CS AUC of the preterm with ROP group (16.22 ± 2.69 p&amp;lt;0.0001) was significantly lower than both the preterm without ROP (18.13 ± 2.01) and term (19.55 ± 2.48) groups. In the weak eyes, the AUC of the 3 groups showed a significant and progressive decline from the term group (18.9 ± 2.84) to the preterm without ROP group (18.29 ± 2.14), then to the preterm with ROP group (15.24 ± 2.21). Conclusion In our cohort of young adults born preterm, prematurity alone did not affect their BCVA and refractive errors. However, ROP was independently associated with a lower BCVA, higher refractive errors, and a reduced contrast sensitivity. Our data have shown that prematurity and ROP have independent effects on contrast sensitivity. This study highlights the necessity of long-term ophthalmologic follow-ups for adults who were born prematurely.

Long-term outcome of a Chinese cohort idiopathic retinitis, vasculitis, aneurysms, and neuroretinits (IRVAN) patients.

To evaluate the clinical characteristics and treatment outcomes of idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis (IRVAN) in a cohort of Chinese patients. The clinical history, imaging evaluation, treatment and outcomes of 42 eyes in 21 patients diagnosed with IRVAN in a 15-year period were reviewed. Most patients were females (90%) ranged from 15 to 58years old. The initial decimal best corrected visual acuity (BCVA) of the patients ranged from light perception (LP) to 1.5 (0.55 ± 0.38). Eighteen eyes were in stage 2; 21 eyes in stage 3; and 1 in stage 5 at the initial visits according to the present staging system. Two eyes had vitreoretinal fibrovascular proliferation (FVP) and tractional retinal detachment (RD) at the initial visit. Intra-retinal microvascular abnormality (IRMA) was found in 7 eyes. Thirty-four eyes received retinal photocoagulation, 27 of which were pan-retinal photocoagulation (PRP). Total of 8 PPV were performed for VH, vitreoretinal FVP and RD, and macular epimembrane. Aneurysms on the head of optic nerve and artery bifurcations disappeared in 8 eyes and decreased in number in 2 eyes 1year after photocoagulation. However, the BCVA of the patients did not have significant difference from that at the initial visits (P = 0.534). Seven eyes suffered severe visual impairment (BCVA ≤ 0.1) due to vitreoretinal FVP and tractional RD (3), exudative maculopathy (2), paracentral acute middle maculopathy (PAMM)(1), and neovascular glaucoma (NVG) (1). We found that IRVAN have a predilection to female gender. Vitreoretinal FVP and tractional RD and exudative maculopathy are major causes of severe visual impairment in IRVAN patients. We propose to revise the present staging system to include vitreoretinal FVP and RD in the staging of IRVAN patients.

Interactions between Apolipoprotein E Metabolism and Retinal Inflammation in Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is a multifactorial retinal disorder that is a major global cause of severe visual impairment. The development of an effective therapy to treat geographic atrophy, the predominant form of AMD, remains elusive due to the incomplete understanding of its pathogenesis. Central to AMD diagnosis and pathology are the hallmark lipid and proteinaceous deposits, drusen and reticular pseudodrusen, that accumulate in the subretinal pigment epithelium and subretinal spaces, respectively. Age-related changes and environmental stressors, such as smoking and a high-fat diet, are believed to interact with the many genetic risk variants that have been identified in several major biochemical pathways, including lipoprotein metabolism and the complement system. The APOE gene, encoding apolipoprotein E (APOE), is a major genetic risk factor for AMD, with the APOE2 allele conferring increased risk and APOE4 conferring reduced risk, in comparison to the wildtype APOE3. Paradoxically, APOE4 is the main genetic risk factor in Alzheimer’s disease, a disease with features of neuroinflammation and amyloid-beta deposition in common with AMD. The potential interactions of APOE with the complement system and amyloid-beta are discussed here to shed light on their roles in AMD pathogenesis, including in drusen biogenesis, immune cell activation and recruitment, and retinal inflammation.

Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish

Myopia is the most common developmental disorder of juvenile eyes, and it has become an increasing cause of severe visual impairment. The GJD2 locus has been consistently associated with myopia in multiple independent genome-wide association studies. However, despite the strong genetic evidence, little is known about the functional role of GJD2 in refractive error development. Here, we find that depletion of gjd2a (Cx35.5) or gjd2b (Cx35.1) orthologs in zebrafish, cause changes in the biometry and refractive status of the eye. Our immunohistological and scRNA sequencing studies show that Cx35.5 (gjd2a) is a retinal connexin and its depletion leads to hyperopia and electrophysiological changes in the retina. These findings support a role for Cx35.5 (gjd2a) in the regulation of ocular biometry. Cx35.1 (gjd2b) has previously been identified in the retina, however, we found an additional lenticular role. Lack of Cx35.1 (gjd2b) led to a nuclear cataract that triggered axial elongation. Our results provide functional evidence of a link between gjd2 and refractive error.

Diagnosis of Inherited Retinal Diseases.

Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention. Therefore, an early and precise diagnosis is crucial for patients and their families. Characterizing inherited retinal diseases involves a detailed medical history, clinical examination with testing of visual function, multimodal retinal imaging as well as molecular genetic testing. This may facilitate a distinction between different inherited retinal diseases, as well as a differentiation from monogenic systemic diseases with retinal involvement, and from mimicking diseases.