A systematic review of the impact of childhood vision impairment on reading and literacy in education

Purpose: This systematic review evaluates current literature on the impact vision impairment has on reading and literacy levels within education. Methods: Six databases were searched with inclusion criteria of trials or studies involving children who are blind or vision impaired, and impact on academic or school performance – including reading and literacy. 1262 articles were identified, with 61 papers undergoing full screening. Quality appraisal was performed using Critical Appraisal Skills Program (CASP) and seven articles deemed eligible for inclusion. Results: Included articles achieved a quality score of over 70 % using the CASP checklists. Direct comparison of articles was not possible due to methodological differences in assessing reading and literacy levels. All seven studies investigated aspects of reading speed, with additional measures of reading performance, such as reading reserve, comprehension, and reading accuracy. Discussion: Underlying trends highlighted students with a vision impairment do not perform at same level as their normally sighted peers with respect to reading performance - in terms of speed, but not ability. Additionally, early intervention to enhance literacy skills may help improve educational outcomes. Future direction should be aimed at identifying specific obstacles to learning these students face and providing interventions to improve academic outcomes. (AU)

Diagnosis, Treatment, and Follow-Up of Giant-Cell Arteritis: A Retrospective Multicenter Study.

BACKGROUND AND PURPOSE: Giant-cell arteritis (GCA) is the most common type of vasculitis in the elderly and is associated with high risks of visual loss and recurrence. Owing to its rarity in Asian populations, the current clinical interventions for these patients are not well known. Here we aimed to characterize the current management status of patients with GCA using Korean multicenter data. METHODS: This retrospective study analyzed medical records of patients with GCA at six Korean university hospitals from February 2009 to November 2022. GCA had originally been diagnosed based on the 1990 American College of Rheumatology (ACR) criteria, and cases were selected for inclusion in this study based on the 2022 ACR/European Alliance of Associations for Rheumatology criteria. We evaluated treatments, follow-up periods, and outcomes (relapse, remission, and adverse drug reactions) in patients with GCA with or without arteritic anterior ischemic optic neuropathy (AAION). RESULTS: This study analyzed 18 patients with a median age of 75.5 years that included 12 females (66.7%). Seven patients (38.8%) had AAION. All patients initially received prednisolone treatment, while four (22.2%) underwent adjuvant treatment with methotrexate and azathioprine during prednisolone tapering. During the median follow-up of 3.5 months (interquartile range: 2.0-23.2 months), 4 patients (22.2%) had prednisolone-related adverse reactions, 2 (11.1%) relapsed, and 13 (72.3%) dropped out. Nine patients (50.0%) experienced remission, with this being sustained in four (36.4%). CONCLUSIONS: This study observed high dropout rates and short follow-ups. Adverse effects of prednisolone were common, and relapses occurred in approximately one-tenth of Korean patients with GCA. Thus, optimizing GCA treatment necessitates regular monitoring and long-term follow-up.

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.

BACKGROUND: KCNV2-associated retinopathy causes a phenotype reported as "cone dystrophy with nyctalopia and supernormal rod responses (CDSRR; OMIM# 610356)," featuring pathognomonic findings on electroretinography (ERG). Here, we report the clinical courses of two siblings with CDSRR. CASE REPORTS: Patient 1: A 3-year-old boy with intermittent exophoria was referred to our hospital. The patient's decimal best-corrected visual acuity (BCVA) at age 6 was 0.7 and 0.7 in the right and left eyes, respectively. Photophobia and night blindness were also observed. Because the ERG showed a delayed and supernormal b-wave with a "squaring (trough-flattened)" a-wave in the DA-30 ERG, and CDSRR was diagnosed. The patient's vision gradually worsened, and faint bilateral bull's eye maculopathy was observed at the age of 27 years, although the fundi were initially unremarkable. Genetic examination revealed a homozygous missense variant, c.529T > C (p.Cys177Arg), in the KCNV2 gene. Patient 2: The second patient was Patient 1's younger sister, who was brought to our hospital at 3 years of age. The patient presented with exotropia, mild nystagmus, photophobia, night blindness, and color vision abnormalities. The patients' decimal BCVA at age 13 was 0.6 and 0.4 in the right and left eyes, respectively, and BCVA gradually decreased until the age of 24 years. The fundi were unremarkable. The siblings had similar ERG findings and the same homozygous missense variant in the KCNV2 gene. CONCLUSIONS: The siblings had clinical findings typical of CDSRR. High-intense flash ERG is recommended for identifying pathognomonic "squaring" a-waves in patients with CDSRR.

[Perioperative visual loss : Rare, unknown, relevant?] / Perioperativer Visusverlust : Selten, unbekannt, relevant?

Perioperative visual loss (POVL) is a rare but severe complication following non-ophthalmological surgery under general anesthesia. A POVL can be caused by lesions in any part of the optical system. The predominant causes include corneal injuries and particularly ischemic damage. The symptoms of POVL substantially vary ranging from reduced vision to complete blindness. The risks involve factors related to the surgery as well as patient-specific factors. In general, the prognosis in cases of mechanical damage is better than for ischemic lesions. The treatment measures depend on the underlying pathomechanism and due to the limited evidence only a few treatment options are available. Therefore, preventive measures and meticulous documentation play a crucial role.

Characteristics of Hospitalized Pediatric Patients Following Traumatic Open Globe Injuries; a Cross-sectional Study.

Introduction: One of the main causes of acquired blindness and impairment in children is ocular trauma. This study aimed to evaluate the epidemiological and clinical characteristics of pediatric patients hospitalized with open globe injuries (OGI). Methods: A retrospective cross-sectional study was conducted on children diagnosed with OGI at a referral Hospital affiliated with Isfahan University of Medical Sciences, Isfahan, Iran, from 2014 to 2018. Results: 375 OGI medical records were detected during the study period. The common culprits for OGI in boys were knives (21.3%), wood (19.7%), metal bodies (12.2%), and glass (11.8%). In girls, the common causes were knives (28.7%), glass (24.3%), pencils (11.3%), and wood (10.4%). Boys had a greater rate of Intraocular foreign body (IOFB) (p= 0.052) but had lower odds of blindness compared to girls (OR=0.48; 95% CI: (0.24, 0.98); p = 0.04). Patients with corneal lacerations had lower chances of long-term admission than those with corneal and scleral lacerations (OR= 0.35, 95% CI: (0.17, 0.69); p = 0.02). Conclusion: Most pediatric OGIs occur in boys. knives were the principal culprit for OGI, followed by glass and wood. Boys had a greater IOFB rate but lower blindness odds than girls.

The Influence of Blind Tennis on Subjective Inclusion Experiences-An Ableism-Critical Analysis.

In this paper, we analyze the subjective inclusion experiences of visually impaired (VI) adult tennis players from an ableism-critical perspective. The primary focus of this research is the inclusive potential of blind tennis from the perspective of VI individuals. Episodic interviews were conducted to capture subjective perspectives. A qualitative text analysis revealed that the interviewees were confronted with multiple ability assumptions by sighted people in their everyday lives. Deficit notions on the performance of VI people included sports, work, and general activities. Participation in blind tennis helped the interviewees build a "competent identity" and acquire various skills useful for their everyday lives as participation in blind tennis was a pathway for competence in sports. Further research is needed to identify exclusion experiences from the perspective of disabled people to recognize the potential of different sports in reducing barriers to participation.

The Underutilization of Mental Health Care Services in the Lives of People with Blindness or Visual Impairment: A Literature Review on Rehabilitation Factors Toward Provision.

Purpose: Roughly 3 million adult Americans have a visual impairment or blindness, and over 4 million adults aged 40 and older. Despite data demonstrating an elevated prevalence of mental health symptoms in people with BVI, this population remains largely untreated. Given that people with BVI often interface with multiple systems of rehabilitative care that are designed to improve quality of life, the relatively low rates of initiation of mental health care services are particularly alarming. In this review, the systematic processes of mental health care services across pertinent rehabilitation groups are identified and critically examined. Patients and Methods: A comprehensive literature review was conducted. The literature review utilized a critical systems typology, whereby relevant literature was selected, reviewed, and analyzed intra and extra organizationally. In addition, a thorough discussion of disability-related factors was provided, lending a socio-political lens to the problem. Results: Considerable data indicates that short-term mental health care services for people with BVI are ineffective treatment methods, albeit primarily employed in health-rehabilitative processes. Multiple studies offered data indicating the presence of diverse and entangled mental health issues relative to vocational rehabilitation services, mobility tool utility, and emotional reactions to vision loss. Many studies suggested that disability identity work be integrated into health-rehabilitative processes for people with BVI. Conclusion: To improve the utility of mental health care services for people with BVI, a reenergization of the mental health care needs of this population must occur. A critical podcast or forum focused on educating listeners about the health-rehabilitation factors that influence the provision of mental health care services can aid to improve future mental health policy and practice for people with BVI. Disability scholars need to advance research on integrating critical theories in work with people with BVI and accelerate qualitative, community-based methods to enhance understanding of this population and their unique mental health needs.

Prosopagnosia Due to Metastatic Brain Tumor: A Case-Based Review.

Prosopagnosia, also referred to as "face blindness," is a type of visual agnosia characterized by a decreased capacity to recognize familiar faces with a preserved ability to identify individuals based on non-facial visual traits or voice. Prosopagnosia can be categorized as developmental (DP) or acquired (AP) owing to a variety of underlying conditions, including trauma, neurodegenerative diseases, stroke, neuroinfections, and, less frequently, malignancies. Facial recognition is a complex process in which different neuronal networks are involved. The infrequent but notable higher visual-processing abnormalities can be caused by lesions of the inferior longitudinal fasciculus (ILF) in the non-dominant temporal lobe. We report a rare case of AP in a 69-year-old patient who is right-hand dominant with rectal carcinoma cerebral metastases. The patient complained of dizziness, vertigo, falls, and trouble recognizing her family members' faces. The CT scan of the head with contrast revealed two metastatic brain lesions with vasogenic edema, as one of them was in the right cerebellar hemisphere, causing dislocation and compression of the ILF. Corticosteroids and osmotherapy were utilized as a conservative treatment approach, which resulted in the prosopagnosia being completely withdrawn. In conclusion, patients with primary brain tumors or metastatic disease rarely present with an isolated cognitive deficit such as prosopagnosia. Based on the anatomical features and the personalized approach, a conservative or surgical approach may be useful to improve higher cortical functioning.

Comparison of veterinarians and a deep learning tool in the diagnosis of equine ophthalmic diseases.

BACKGROUND/OBJECTIVES: The aim was to compare ophthalmic diagnoses made by veterinarians to a deep learning (artificial intelligence) software tool which was developed to aid in the diagnosis of equine ophthalmic diseases. As equine ophthalmology is a very specialised field in equine medicine, the tool may be able to help in diagnosing equine ophthalmic emergencies such as uveitis. STUDY DESIGN: In silico tool development and assessment of diagnostic performance. METHODS: A deep learning tool which was developed and trained for classification of equine ophthalmic diseases was tested with 40 photographs displaying various equine ophthalmic diseases. The same data set was shown to different groups of veterinarians (equine, small animal, mixed practice, other) using an opinion poll to compare the results and evaluate the performance of the programme. Convolutional Neural Networks (CNN) were trained on 2346 photographs of equine eyes, which were augmented to 9384 images. Two hundred and sixty-one separate unmodified images were used to evaluate the trained network. The trained deep learning tool was used on 40 photographs of equine eyes (10 healthy, 12 uveitis, 18 other diseases). An opinion poll was used to evaluate the diagnostic performance of 148 veterinarians in comparison to the software tool. RESULTS: The probability for the correct answer was 93% for the AI programme. Equine veterinarians answered correctly in 76%, whereas other veterinarians reached 67% probability for the correct diagnosis. MAIN LIMITATIONS: Diagnosis was solely based on images of equine eyes without the possibility to evaluate the inner eye. CONCLUSIONS: The deep learning tool proved to be at least equivalent to veterinarians in assessing ophthalmic diseases in photographs. We therefore conclude that the software tool may be useful in detecting potential emergency cases. In this context, blindness in horses may be prevented as the horse can receive accurate treatment or can be sent to an equine hospital. Furthermore, the tool gives less experienced veterinarians the opportunity to differentiate between uveitis and other ocular anterior segment disease and to support them in their decision-making regarding treatment.

Using virtual reality to induce multi-trial inattentional blindness despite trial-by-trial measures of awareness.

Unconscious processing has been widely examined using diverse and well-controlled methodologies. However, the extent to which these findings are relevant to real-life instances of information processing without awareness is limited. Here, we present a novel inattentional blindness (IB) paradigm in virtual reality (VR). In three experiments, we managed to repeatedly induce IB while participants foveally viewed salient stimuli for prolonged durations. The effectiveness of this paradigm demonstrates the close relationship between top-down attention and subjective experience. Thus, this method provides an ecologically valid setup to examine processing without awareness.

Anton-Babinski Syndrome: A Visual Anosognosia.

Anton-Babinski syndrome is a rare extension of cortical blindness following injury to the occipital lobe. The patient behaves as sighted but has visual function derangements. The posterior cerebral artery (PCA) stroke represents 5% to 10% of total strokes. The COVID-19 pandemic has shown a rise in stroke cases. We present a case of this rare PCA stroke, first diagnosed by an ophthalmologist. This case had an inconsistent initial presentation, but subsequent computed tomography of the brain and other neurological investigations confirmed the diagnosis. If such cases are diagnosed early, they could have better management. Timely intervention can decrease morbidity as well as mortality.

The Effects of Cataract Surgery on Children's Vision: A Systematic Review.

Background: Five-fifths of all incidents of blindness in Saudi Arabia may be attributed to cataracts. Cataracts are the second major cause of blindness, responsible for 35.5% of cases. Therefore, the purpose of the research was to measure the visual acuity improvement after cataract surgery in children. Materials and Methods: This systematic review followed PRISMA guidelines for reporting systematic reviews. All procedures followed the recommendations of the Cochrane handbook. Studies of varying study designs, both published and unpublished, are included. Retrospective studies with outcomes of pediatric cataract surgery were identified from various databases. Result: After an initial screening, 108 out of 167 items were deemed unsuitable for publication. There were 59 full-text papers assessed for inclusion, and only seven matched the criteria. All the articles included were of a very high standard. Both the duration of therapy and the target population varied widely between the studies. Conclusion: The results indicated that the majority of childhood cataracts are hereditary. Primary posterior capsulectomy and anterior vitrectomy combined with cataract extraction and intra-ocular lens implantation is the treatment of choice for pediatric cataracts. It is recommended that surgery be performed in a properly equipped facility staffed by trained, cooperative personnel and that different procedures be used to enhance post-operative follow-up.

Three-year outcomes of vascular endothelial growth factor inhibitors in naïve branch retinal vein occlusion: Fight Retinal Blindness!

PURPOSE: To evaluate the 3-year outcomes of vascular endothelial growth factor (VEGF) inhibitors in the treatment of cystoid macular oedema (CME) due to branch retinal vein occlusion (BRVO) in an international multicenter cohort of eyes. DESIGN: Multicenter, international, BRVO database study. SUBJECTS: Seven hundred forty-seven patients (760 eyes) undergoing intravitreal therapy for BRVO for 3 years in a multicenter international setting. METHODS: Demographics, visual acuity (VA) in logarithm of the minimum angle of resolution (logMAR) letters, central subfield thickness (CST), treatments, number of injections and visits data was collected using a validated web-based tool. MAIN OUTCOME MEASURES: Visual acuity (VA) gain at 3 years in LogMAR letters. Secondary outcome measures included anatomical results, treatment pattern and percentage of completers. A subgroup analysis by study drug was conducted for clinical outcomes. RESULTS: Mean adjusted VA change was +11 letters (95% CI 9,13), mean adjusted change in CST was -176µm (-193, -159). Median number of injections/visits was 16/24 at 3 years of follow-up. Most eyes received VEGF inhibitors exclusively (89%, n=677) and as a monotherapy in 71% (n=538). Few eyes were switched to steroids (11%, n=83). Suspensions in treatment >180 days occurred in 26% of study eyes. Aflibercept showed greater CST reductions (-147 vs -128 vs -114µm; p< 0.001) and significantly lower switching rates (14% vs 38% vs 33%, p< 0.001) compared with ranibizumab and bevacizumab, respectively. CONCLUSIONS: This international study of 3-year BRVO outcomes after starting treatment with VEGF inhibitors found adequate visual and anatomical results in routine clinical care. Visual outcomes were similar amongst the different initiating VEGF inhibitors, although eyes starting with aflibercept had better anatomical outcomes and a lower switching rate.

[The appealability of patients with glaucoma in the Kyrgyz Republic].

According to world forecasting, the number of patients with glaucoma all over the world will reach 111.8 million up to 2040 . The percentage of primary open-angle glaucoma is 2.34% and primary closed-angle glaucoma is 0.73%. According to mathematical forecast, further increasing of common and primary morbidity is expected. The retrospective analysis of patient records of the Department of Eye Microsurgery № 2 of the National Hospital of the Ministry of Health of the Kyrgyz Republic was carried out. It is established that among total number of treated patients with glaucoma, no significant difference in rate of cases of closed-angle (53,7±1,7) and open-angle forms (46,3±1,7) was established. In most cases, open-angle glaucoma was diagnosed in age group of 60-79 years and closed-angle glaucoma in age group of 50-79 years. The women are reliably more often suffer of glaucoma. The majority of patients had stage III (42,3±2,5), stage II (31,8±2,4) and stage I (22,2±2,1). At all stages, women more often had glaucoma with the exception of stage III and IV that were diagnosed with same rate were diagnosed in patients of both sexes. Unfortunately, there were isolated cases of open-angle glaucoma at young age. The results of the study dictate importance of prevention, early diagnostic, treatment and rehabilitation of ophthalmologic patients.

The construction of genetics teaching resources related to colour blindness and their application in genetics teaching.

Red-green colour blindness is a classic example for the teaching of X-linked recessive inheritance in genetics course. However, there are lots of types of color vision deficiencies besides red-green colour blindness. Different color vision deficiencies caused by different genes may have different modes of inheritance. In recent years, many research achievements on colour blindness have been made. These achievements could be used as teaching resources in genetics course. Here, we summarize the construction of genetics teaching resources related to colour blindness and their application in genetics teaching in several chapters such as introduction, cellular and molecular basis of genetics, sex-linked inheritance, chromosomal aberration, gene mutation and advances in genetics. Teacher could use the resources in class or after class with different teaching methods such as questioning teaching method and task method. It may expand students' academic horizons and inspire students' interest in genetics besides grasping basic genetic knowledge.

Global, regional, and national burden of blindness and vision loss attributable to high fasting plasma glucose from 1990 to 2019, and forecasts to 2030: A systematic analysis for the Global Burden of Disease Study 2019.

AIMS: To systematically clarify the spatiotemporal trends, and age-sex-specific blindness and vision loss (BVL) burden due to high fasting plasma glucose (HFPG) from 1990 to 2019, and project this burden over the next decade. MATERIALS AND METHODS: We obtained the number and rate of years lived with disability (YLDs) for the BVL burden attributable to HFPG by age, sex, socio-demographic index (SDI), and location between 1990 and 2019 from the Global Burden of Disease (GBD) 2019 database. The average annual percentage changes (AAPCs) were calculated to assess the temporal trends of HFPG-attributable BVL burden. The Bayesian age-period-cohort model was used to predict the HFPG-attributable BVL burden. RESULTS: In 2019, the global number and age-standardized rate (ASR) for YLDs of BVL attributable to HFPG were 673.13 (95% UI: 159.52 to 1565.34) thousand and 8.44 (95% UI: 2.00 to 19.63) per 100,000 people, respectively. The highest burdens were found in Oceania, South Asia, and Southeast Asia, and the BVL burden due to HFPG was higher in the elderly and lower SDI regions. From 1990 to 2019, the global ASR of HFPG-attributable BVL gradually increased with AAPC (95% CI) being 0.80 (0.74 to 0.86). In addition, the HFPG-attributable BVL burden will slightly increase in the future decade. CONCLUSIONS: The HFPG remains the important cause of BVL worldwide, placing a substantial disease burden. From 1990 to 2019, the age-standardized burden of BVL due to HFPG increased, and will consistently increase in the future decade, particularly in the elderly and in regions with middle SDI or below.

Developer perspectives on the ethics of AI-driven neural implants: a qualitative study.

Convergence of neural implants with artificial intelligence (AI) presents opportunities for the development of novel neural implants and improvement of existing neurotechnologies. While such technological innovation carries great promise for the restoration of neurological functions, they also raise ethical challenges. Developers of AI-driven neural implants possess valuable knowledge on the possibilities, limitations and challenges raised by these innovations; yet their perspectives are underrepresented in academic literature. This study aims to explore perspectives of developers of neurotechnology to outline ethical implications of three AI-driven neural implants: a cochlear implant, a visual neural implant, and a motor intention decoding speech-brain-computer-interface. We conducted semi-structured focus groups with developers (n = 19) of AI-driven neural implants. Respondents shared ethically relevant considerations about AI-driven neural implants that we clustered into three themes: (1) design aspects; (2) challenges in clinical trials; (3) impact on users and society. Developers considered accuracy and reliability of AI-driven neural implants conditional for users' safety, authenticity, and mental privacy. These needs were magnified by the convergence with AI. Yet, the need for accuracy and reliability may also conflict with potential benefits of AI in terms of efficiency and complex data interpretation. We discuss strategies to mitigate these challenges.

Neuronal Control of Posture in Blind Individuals.

The control of posture is guided by the integration of sensory information. Because blind individuals cannot apply visual information to control posture as sighted individuals do they must compensate by the remaining senses. We therefore hypothesize that blind individuals alter their brain activation in the sensorimotor cortex during postural control to compensate for balance control without vision by the increased integration of somatosensory information. Ten blind and ten sighted (matched) individuals controlled posture during conditions with (I) eyes closed / open, and (II) stable / unstable surface conditions. Postural sway was recorded by applying a pressure distribution measuring plate. Brain activation was collected by functional Near InfraRed Spectroscopy (fNIRS) above motor-sensory cortices of the right and left hemispheres. Blind individuals showed significantly increased postural sway when balancing with open eyes on an unstable surface and when compared to sighted individuals. Whereas blind individuals showed significantly increased brain activation when balancing with open eyes on stable and unstable surface conditions, sighted individuals increased their brain oxygenation only during closed eyes and unstable surface conditions. Overall conditions, blind individuals presented significantly increased brain activation in two channels of the left and right hemispheric motor-sensory cortex when compared to sighted individuals. We therefore conclude that sighted individuals increase their brain oxygenation in the sensorimotor cortex during postural control tasks that demand sensory integration processes. Blind individuals are characterized by increased brain activation overall conditions indicating additional sensory integration during postural control. Thus, the sensorimotor cortex of blind individuals adapts to control posture without vision.

Burdens and trends of blindness and vision loss among those aged 55 years and older: A systematic analysis for the Global Burden of Disease Study 2019.

PURPOSE: To systematically analysis the burden and trends of blindness and vision loss for those aged ≥55 years from 1990 to 2019 and to predict trends over the next few years. METHODS: The data were extracted from the Global Burden of Disease Study (GBD) 2019. Trends from 1990 to 2019 were calculated using average annual percentage change (AAPC) by joinpoint regression analysis. Bayesian age-period-cohort (BAPC) models were used to predict future trends. RESULTS: In 2019, the global prevalence of blindness and vision loss was 471.1 million with 15.9 million disability-adjusted life-years (DALYs) for those aged ≥55 years. These numbers will reach 640.3 million cases and 18.9 million DALYs in 2030. The prevalence rate (per 100,000 population) increased from 32,137.8 (95% uncertainty interval [UI], 26,307.9-39,246.3) in 1990 to 33,509 (95% UI, 27,435.5-40,996.2) in 2019, with an AAPC of 0.143 (95% confidence interval [CI], 0.125-0.161; P < 0.001). The DALY rate (per 100,000 population) decreased from 632.9 (95% UI, 447.7-870.9) in 1990 to 579.3 (95% UI, 405.2-803.4) in 2019, with an AAPC of -0.293 (95% CI, -0.323-[-]0.263). Although the prevalence rates of cataracts, age-related macular degeneration, glaucoma, and near vision loss showed increasing trends from 1990 to 2019, the DALY rates indicated a downward trend for all blindness-causing diseases. The burden is heavier for women and in low Socio-demographic Index (SDI) regions. CONCLUSIONS: Despite a decline from 2001 to 2019, the burden of blindness and vision loss, measured by prevalence and DALYs, continues to rise after adjusting for population growth and aging. Blindness and vision loss are significant public health burdens, especially for women and in low-SDI regions.

Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.

Background: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB). Methods: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were recorded. Targeted gene sequencing including 156 genes related to retinal diseases was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation analysis was performed on all available family members. Bioinformatics analysis was performed to predict the impact of the mutations. Results: By targeted gene sequencing and Sanger sequencing, we identified compound heterozygous mutations in GRM6: c.152G>T (p.Gly51Val) and c.727delG (p.Val243SerfsX21). Segregation analysis demonstrated that the mother of the proband carried the missense mutation (c.152G>T) while her father carried the frameshift mutation (c.727delG), indicating CSNB was autosomal recessively inherited in this family. Several bioinformatics prediction programs revealed the mutations were "Damaging" or "Disease Causing" and conservation analysis showed both the codons Gly51 and Val243 were highly conserved among species, suggesting the changes were pathogenic. Conclusion: By targeted gene sequencing and Sanger sequencing, we detected compound heterozygous mutations (c.152G>T, p.Gly51Val and c.727delG, p.Val243SerfsX21) in GRM6. The mutations co-segregated with the phenotype of the family members and are considered to be responsible for complete Schubert-Bornschein type CSNB. However, functional experiments in the future are needed to confirm the pathogenicity of the variants and to elucidate their exact molecular mechanisms causing CSNB.