celebrities with optic nerve hypoplasia

ONH is a spectrum disorder; a child with Optic Nerve Hypoplasia can be totally blind, but exhibit no developmental delays, sensory processing difficulties or medical complications. Ms. Brown has a Bachelor of Arts in Biology & Pre-Medicine from the Occidental College and a Master of Public Health from the Capella University. 2022; 46:207-207. Children with optic nerve hypoplasia (ONH) can have difficulty focusing on the face of a parent/caregiver or another object starting in infancy. Hypopituitarism due to pituitary gland hypoplasia: The pituitary gland secretes a variety of important hormones. 9 Fink C et al. Articles typically offer step-by-step overviews of etiology, diagnosis, treatment, and follow-up. To access the new portal/member content, please reset your username and password by clicking "I forgot my login name or password" on this page. Cortisol is an important hormone when our bodies are in a state of stress. WebHigh rate of concurrent retinal non perfusion encountered in Pediatric patients with optic nerve hypoplasia #Opticnervehypoplasia #AmericanJournalofOphthalmology #retinalnonperfusion. A young boy with a deficiency of these hormones can have a small penis size or testicles that havent descended into the scrotum. Gallery Tilted optic disc in left eye of a 20 years old male. For example, an association has been postulated between ONH and a mutation in the HESX1 transcription regulation gene, given that both may be seen in patients with septo-optic dysplasia who also manifest pituitary dysfunction. Optic nerve hypoplasia may also occur alongside brain structure abnormalities such as: Scientists currently do not know what causes optic nerve hypoplasia. The lack of these hormones can cause a great deal of problems for the children who are missing them.Children with ONH may also experience sleep dysfunction, gastrointestinal distress, problems with hunger or thirst, difficulties with temperature regulation and autism spectrum disorders. Diagnosis However, there are some variations that do run in families. Children with ONH may need to be tested and treated by experienced specialists, which include pediatricians; ophthalmologist; endocrinologist; neurologist; psychologists; occupational, physical and speech therapists; and teachers of the visually impaired. Southern California Clinical and Translational Science Institute (SC CTSI). Its responsible for keeping the body in homeostasis, managing things like blood pressure, body temperature, hunger, thirst, and sleep. The anterior pituitary gland contributes to growth, metabolism, and sexual development. 5 Dahl S et al. Nearly 80% of those affected with ONH will experience hypothalamic dysfunction and/or impaired development of the brain, regardless of MRI findings or severity of ONH.[3]. 2022; 129:856-864. The effects of optic nerve hypoplasia have a broad range dependent on the adequacy of visual messages sent from the eyes to the brain, from little or no visual impairment to near-total blindness. Additionally, this research registry functions as an umbrella study for the development of more specialized investigations of the syndrome. Some researchers hypothesize that optic nerve hypoplasia could be the result of vascular disruption. Ghr.nlm.nih.gov/condition/septo-optic-dysplasia, Section on Endocrinology Patient Education Committee, 6728 Old McLean Village Dr Dr. Garcia-Filion completed a doctoral degree in epidemiology from the Division of Biostatistics, Department of Preventive Medicine, Keck School of Medicine, University of Southern California. ONH impacts all ethnic groups, although in the United States, occurrence is lower in persons of Asian descent. Participants areless than 24 months of age upon enrollment and followed annually through puberty. This occurs because the eyes are not able to focus well enough to hold still. Visual acuity can range from no light perception to near-normal vision. However, I left full-time social work after job-related stress caused some inappropriate behaviors to reemerge. WebOptic Nerve Hypoplasia appears to be linked to a variety of other anomalies, including those of the central nervous system, as well as symptoms of prenatal development Septo-optic dysplasia is a disorder of early brain and eye development. In some people, brain abnormalities associated with ONH cause seizures.The development of the pituitary gland, found at the base of the brain, can also be affected in children with ONH. No specific treatments are available for ONH itself, but the patients outcomes can be improved with multidisciplinary management. A child can have 2 of the 3 and still be diagnosed with ONH/Hypopituitarism. It took extra time for me to process information, which made reading comprehension particularly challenging. The eyes may seem to move around with no real pattern or purpose. [3][13] In 1997, ONH overtook retinopathy of prematurity as the single leading cause of infant blindness in Sweden, with 6.3 in every 100,000 births diagnosed with ONH. The distance between the center of the disc and the macula is DM. This field is for validation purposes and should be left unchanged. These patients are also at significant risk of developmental delay, and an increased prevalence of autistic spectrum disorders has been reported among ONH patients.8. My name is Christopher Sabine, and I am an adult with Optic Nerve Hypoplasia who operates a small consulting firm serving families of children with Optic Nerve Hypoplasia Nationally and worldwide. Optical coherence tomography, or OCT, is a non-invasive method of recording images of the back of the eye. MRIs create detailed images of soft tissue by using a magnetic field and radio waves. Vision problems are usually not treatable, but depending on its severity and type, a vision problem may be manageable with vision aids. When ONH is diagnosed, it is of crucial importance to search for potential associated abnormalities. Delays may occur in unilateral (39%) as well as bilateral (78%) cases. Just after I learned to tie my shoesat the start of my freshman year of High Schoolsomething interesting happened. 1997;104(3):493-496. I eventually graduated from high school with honors, received my Bachelors and a Masters degree in Social Work and worked full time in professional human services for five years. It takes a number of years to be able to tell what a child's vision will be like. An individual with loss of peripheral vision has some degree of tunnel vision making it difficult to gather comprehensive visual information in an environment; he or she will benefit from learning visual efficiency skills such as scanning an environment in an organized manner. WebOptic nerve hypoplasia (ONH) is a congenital condition (present at birth) in which there is underdevelopment of the optic nerve. Central hypothyroidism can be diagnosed by a low or normal thyroid-stimulating hormone (TSH) in the presence of a low level of free T4. In my practice, I have heard families describe similar patterns of learning some skillsparticularly speech. Many, like me, exhibit behaviors and developmental delays typical of children on the Autism Spectrum. 6 Borchert M, Garcia-Filion P. Curr Neurol Neurosci Rep. 2008;8:395-403. Neurodevelopmental or neuroendocrine disorders may also be associated with ONH, especially in bilateral or severe cases.4 In these patients, ONH can be considered part of a broader multisystem syndrome, which was formerly thought to be synonymous with septo-optic dysplasia (or de Morsier syndrome); however, these terms are now controversial and outdated. This occurs because the eyes are not able to focus well enough to hold still. While I did not master braille at that time because of the demands of high school and college, I did eventually learn to fully master braille as an adult and am a fairly fluent braille readerthough my speed is not up to my liking. [9][10][11] Where "DM" represents the distance from Disk to Macula, and "DD" represents Disc Diameter. 27 Apr 2023 12:32:25 Symptoms Hypoplasia typically causes 1996, issue of VIPS, the WebReappraisal of the optic nerve hypoplasia syndrome. Each of these features will be reviewed below in further detail. 1981;99(4):655-659. It is best thought of as being part of the holoprosencephaly spectrum (see classification system for midline Children who have both an underdeveloped optic nerve and hypothalamus often experience trouble with regulating these things. Optic Nerve Hypoplasia (ONH) is the under-development or absence of the optic nerve combined with possible brain and endocrine abnormalities. It is a unilateral or bilateral malformation of the optic nerve with a wide spectrum of severity. For 2020: Year of the Eye, the American Academy of Ophthalmology presents you with 20 actors, musicians, artists and other famous people who achieved An individual with photophobia may benefit from specialized sunglasses (amber-tinted lenses), use of a brimmed hat while outdoors as well as shutting blinds while indoors if glare is present. Optic Nerve Hypoplasia in Children: A Disease of Brain Development, No Evidence to Support Stem Cell Therapy for Pediatric Optic Nerve Hypoplasia, Click here to view a searchable database of resources, American Occupational Therapy Association, Texas School for the Blind and Visually Impaired, The Vision Center at Children's Hospital Los Angeles, Nondiscrimination Statement and Language Assistance. If this is the case, your child may benefit from increased room and task lighting; utilizing assistive technology to more easily write, read, use the computer, and access information; and to utilize techniques and additional accommodations to perform activities with limited vision. A child who is missing cortisol can be very weak, tired, dizzy, or have a poor appetite. Impairment of optic nerve development and failure for a normal number of axons to form during the first or second trimester of pregnancy lead to ONH. It is important to understand that for the child with ONH, strabismus and nystagmus are involuntary; he/she is entirely unaware of these eye movements. Joanna Mathewson recalled her young daughters diagnosis of ONH in Optic Nerve Hypoplasia, Part 1: Joanna and Chrissas Journey, and Joanna shared advice she has for other parents in Optic Nerve Hypoplasia, Part 2: One Mom and Advocates Recommendations. Getting Here Before Your Visit Low maternal weight gain or maternal weight loss, Use of recreational drugs during pregnancy, A smaller-than-normal optic disc, the structure where the optic nerve meets the rest of the eye, Thinning layers of the retina, the cells that line the back wall of the eye. This is sometimes colloquially referred to as lazy eye. Optic Nerve Hypoplasia (ONH) is an ocular condition that occurs when the optic nerve does not fully develop. In affected individuals, It is estimated that 15% to 25% of infants with significant visual impairment have ONH.1,2, Reported incidence ranges between 2.4/100,000 residents (<19 years of age) annually in Olmsted County, Minnesota, to 17.3/100,000 residents (<18 years of age) annually in Stockholm, Sweden.3,4 There is no clear evidence of variation across geographic regions, but a study based in the United Kingdom found higher standardized incidence ratios in inner-city districts of high population density.4. Although there are no treatments for ONH itself, the ophthalmologists early identification of this condition allows for prompt investigation of associated neuroendocrine disorders that can have a profound impact on the patients systemic health and may be amenable to timely intervention. [3], Treatment for strabismus may include patching of the better eye, which may result in improved vision in the worse eye; however, this should be reserved for cases in which the potential for vision improvement in both eyes is felt to be good. 2011 Nov 15;2011(1):17. However, in milder cases, ONH may be more easily missed. I later learned to recite the first 103 elements of the Periodic Table and taught myself to perform long multiplication problems inside my head. This can limit the amount of vision a child has and affect their eye movement. Many children with ONH have problems with their pituitary gland, growth hormones, thyroid gland/hormone, sex hormones, adrenal glands and cortisol, low blood sugar (hypoglycemia), anti-diuretic hormone (ADH), and prolactin. It sends light signals to your brain, allowing you to see.. Cortisol helps maintain our blood pressure and blood sugar amongst other things. While attending a self-contained classroom with primarily nonverbal students with significant intellectual disabilities, he had taught himself the alphabet and basic phonetics by watching Sesame Street. Infants and children with ONH may have accompanying hormone deficiencies, brain abnormalities, and nystagmus (involuntary darting of the eyes). American Academy of Ophthalmology: Optic Disc, Optic Nerve, Optic Nerve Hypoplasia, Retina., American Association for Pediatric Ophthalmology and Strabismus: Optic Nerve Hypoplasia., Cleveland Clinic:Hypothalimus, Optical Coherence Tomography,Pituitary Gland., National Cancer Institute: cerebral hemisphere, optic chiasm., National Organization for Rare Disorders: Agenesis of Corpus Callosum, NIH GARD Information: Absence of septum pellucidum, Optic Nerve Hypoplasia.. Occasionally, children born with an underdeveloped optic nerve also have an underdeveloped hypothalamus. Ratner Kaufman, Francine, Neal Kaufman, Mark Borchert, and Talia Inlender. An individual with poor visual acuity may have difficulty recognizing faces and facial expressions as well as accessing near and detailed information. WebOptic nerve hypoplasia Optic nerve hypoplasia 2013 May;6 (2):77-82. doi: 10.4103/0974-620X.116622. Most children with ONH experience some improvement in their vision during their early childhood years. ONH is primarily a clinical diagnosis based on identification of a small optic disc. Treatment Alternatively, their neurologic function can be normal. Click here to view a searchable database of resources. As local school districts nationally are faced with increasing numbers of blind and visually impaired children with ONH nationally, I believe a model of best practice needs to take shape to meet our childrens specialized and unique learning needs. Interested in sharing with your colleagues the latest evidence-based information about the diagnosis and medical and/or surgical management of a specific disease entity? WebIm a 26 year old male. If your child is totally blind, he or she must be taught to complete tasks without the use of vision. The vision of a person with ONH can range from near normal usable vision to total blindness. [3], Mutations of genes involved in transcription regulation, chromatin remodelling, -dystroglycan glycosylation, cytoskeleton and scaffolding protein, RNA splicing, and the MAP kinase signalling pathway are currently known to cause ONH. 2018;107(3):484-489. In some people, brain abnormalities associated with ONH cause seizures. 2006;148(1):85-88. Build a foundation to support your child's learning. Exhibitor Central General Information - American Academy of Ophthal Hormonal imbalances may require hormone replacement therapy. The eyes may seem to move around with no real pattern or purpose. To learn about how his visual impairment affected him, click here. [11], There is no cure for ONH; however, many therapeutic interventions exist for the care of its symptoms. Since I have a small amount of usable vision, my parents and teachers decided to abandon braille in favor of recorded books and print reading with a closed circuit television. In 2005, I launched ONH Consulting to support children with Optic Nerve Hypoplasia and related conditions and their families, drawing on my professional social service background and personal experience as someone living with ONH. Because the unilateral cases tend to have better vision, they are typically diagnosed at a later age than those with bilateral ONH. However, early intervention can improve functioning (says The MAGIC Ocular associations may include microphthalmos, aniridia, coloboma, and foveal hypoplasia.1, Systemic associations include hypothalamic dysfunction, which can produce pituitary, adrenal, or thyroid insufficiencies, especially in severe bilateral cases of ONH. Like learning to speak when I was three, I found that I could button my shirt, tie my shoes and perform some other skills like plugging in appliances with some easeas if I had been using these skills all my life. [4], ONH is often referred to as septo-optic dysplasia, a term that refers to agenesis of the septum pellucidum. The medications are delivered by nose, mouth or injection. WebThis Optic Nerve Hypoplasia web portal has been generously supported by The Karl Kirchgessner Foundation. WebSummary. According to my mother, while I could understand what my parents said to me at ten months, I did not speak until I was three years old. Some people with ONH also have an abnormal brain and a poorly functioning pituitary gland. 1 Garcia-Filion P, Borchert M.Curr Treat Options Neurol. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment. Int J Pediatr Endocrinol. I attended that program for three summers and was finally able to learn many daily living skills, including cane travel. Be sure that your child is tested and treated by experienced specialists, including: pediatricians; psychologists; occupational, physical and speech therapists; and teachers of the visually impaired. Los Angeles. Growth hormone deficiency is common in children with ONH. In some cases, newborns may have nystagmus, uncontrollable shaking of the eyes. WebOr, in the case of a disease like optic nerve hypoplasia that damages the eye and vision, the damage is compounded by amblyopia. These included the sounds of local and long distance telephone equipment, certain musical groups and artists, the Periodic Table of the Elements and the geography of specific areas of the United Statesparticularly my local area and, later, Northern and Central New Jersey. The presenting visual acuity varies widely in ONH, from complete blindness to almost normal in approximately 10% of patients.7 Poor visual behavior may be noticed by the patients parents. Spiritual Care and Clinical Pastoral Education, Anesthesiology and Critical Care Medicine, Child Neurology Residency Training Program. Brailles abrasive texture made processing it especially difficult. Interpretation: When the ratio of DM to DD is greater than 3, ONH is suspected, and when it is greater than 4, Optic Nerve Hypoplasia is definite. It is now clear that the absence of the septum pellucidum does not correlate with the associated symptoms of ONH. The optic nerve, which is responsible for transmitting visual signals from the retin Special attention should be paid to early development of oral motor skills and acclimation to textured foods for children with texture aversion, or who are otherwise resistant to eating. Children with these abnormalities can have seizures or intellectual disabilities. Jorge Luis Borges These behaviors are sometimes referred to as repetitive, stereotyped behaviors or blindisms. Risk factors. 3 Mohney BG et al. This brochure explains the Clinical examination. Tiger Woods is arguably one of the best golfers the game has ever seen. The most common pituitary endocrinopathies are growth hormone (GH) deficiency (70%), hypothyroidism (43%), adrenal insufficiency (27%), and diabetes insipidus (5%).[3][4]. Optic Nerve Hypoplasia by the Childrens Hospital Los Angeles. Abnormal development of the corpus callosum may or may not cause abnormal brain functions, and the effects can range from mild to severe. Prolactin: This hormone is ordinarily responsible for milk formation in mothers who breast-feed their infants. WebOptic nerve hypoplasia, megalopapilla, peripapillary staphyloma, colobomatous optic disc, optic pit, myelinated nerve fiber layer, glaucoma, chiasmal lesion while traditionally thought of as a benign congenital anomaly, cases of serous retinal detachment have been reported. proposed instead the syndrome of optic nerve hypoplasia.6 Although there may be an association with congenital absence of the septum pellucidum (Fig. In addition, in some cases of ONH children will have a nystagmus, which is unusual eye movement. She is responsible for providing scientific support for epidemiological and clinical research projects within the ONH research program. WebHigh rate of concurrent retinal non perfusion encountered in Pediatric patients with optic nerve hypoplasia. Optic Nerve Hypoplasia (ONH) is the under-development or They may show sensory defensiveness and delays in learning fine and gross motor skills, which can make reading braille and learning basic daily living skills, like dressing, grooming and personal hygiene, difficult or impossible without additional supports. Nearly all children with ONH exhibit random, horizontal and vertical eye movements called nystagmus. Optic Nerve Hypoplasia (ONH): A Mothers Perspective Abigail Cindy Lee: A Short Bio Date of Birth: November 29, 2009 Age: 2.5 Years Mental Age: 9-12 Months SOD is a condition that can involve multiple problems in the midline structures of the brain, stemming from miswiring of the brain and central nervous system. The testimony of previous recipients that stem cell therapy resulted in improved vision bears little scientific merit as many children with ONH enjoy late, spontaneous improvement in vision. "Genetic causes of optic nerve hypoplasia", "Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia", "Congenital disorders of the optic nerve: excavations and hypoplasia", Thygeson's superficial punctate keratopathy, Chronic progressive external ophthalmoplegia, https://en.wikipedia.org/w/index.php?title=Optic_nerve_hypoplasia&oldid=1132097054, Disorders of optic nerve and visual pathways, Wikipedia articles needing page number citations from January 2022, Short description is different from Wikidata, Creative Commons Attribution-ShareAlike License 3.0, This page was last edited on 7 January 2023, at 06:56. 90% of patients with optic nerve hypoplasia have central nervous system abnormalities, and 70% have neuro-developmental handicaps. ONH may be found in isolation or in conjunction with myriad functional and anatomic abnormalities of the central nervous system. 4 Patel L et al. WebOptic Nerve Hypoplasia By Kim Lawrence Ah-See, MBChB, and Jonathan Chan, MBBCh, FRCOphth Edited By: Bennie H. Jeng, MD Add to My Bookmarks Comments Download ( click here ). 66 The third deletion patient reported manifested A new study published in the American Journal of Ophthalmology suggests that there seems to be a significant rate of concomitant retinal nonperfusion in pediatric optic nerve hypoplasia (ONH) patients.. There is evidence, though, that certain gene mutations may be associated with optic nerve hypoplasia. The underlying process that leads to the birth of a child with ONH also can affect adjacent structures of the midline brain. If hormonal or pituitary problems are suspected along with optic nerve hypoplasia, your doctor may run blood tests to check hormone levels. My favorite word was beep.. For example, timely mobility training, low vision aids, and specialized teaching support can optimize outcomes for patients with poor vision, as well as for those with associated neurodevelopmental delay and/or autism spectrum disorders. Gonadotropins (luteinizing hormone or LH and follicle-stimulating hormone or FSH): These hormones are important for the initiation of puberty. Virtual Tour However, nystagmus and strabismus can make focusing on objects or attending to visual tasks, such as reading print for any length of time, difficult to impossible. WebOptic Nerve Hypoplasia by the American Association for Pediatric Ophthalmology and Strabismus. Pamela Garcia-Filion, PhD, MPH, is a research associate with The Vision Center at Children's Hospital Los Angeles. It is also known as Septo-Optic Dysplasia or DeMorsier's Syndrome.Now at epidemic proportions, ONH is theleading ocular cause ofblindness and visual impairment in young children. A child does not have to have all 3 features (meaning optic nerve hypoplasia, abnormal midline structures of the brain, and pituitary gland hypoplasia) to be diagnosed with ONH/Hypopituitarism. Most commonly, the abnormal eye movement is the first clue for ONH/Hypopituitarism. I did not go through a babbling stage like most typically developing children. This disturbance could result in behavioral problems and disruption of family life. WebMD does not provide medical advice, diagnosis or treatment. [2] Many transcription factors for eye development are also involved in the morphogenesis of forebrain, which may explain why ONH is commonly a part of a syndrome involving brain malformations.[2]. Hypopituitarism is present in 75% to 80% of patients with ONH. A new study published in the American Journal of Ophthalmology suggests that there seems to be a significant rate of concomitant retinal nonperfusion in pediatric optic nerve hypoplasia (ONH) patients.. Currently there is no cure for ONH. An MRI of the brain may be ordered to get an inside look into how the brain has developed. JAMA Ophthalmol. Magnetic resonance imaging (MRI) can demonstrate asymmetry of the caliber of the optic nerve in most moderate to severe cases (Fig. A diagnosis will be given. When a person doesn'tt make hormones correctly, this is called hypopituitarism. Today, we hear advice from two teachers who regularly work with If this hormone is missing, a person will urinate frequently and be very thirsty. Learning new skills and processing information spatially became much easier for me than it had been in the past. Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. It is also known as de Morsier syndrome. Thyroid hormone is critical for growth and brain development, especially during the first few weeks to months of life. 2005;94(10):1421-1426. Find a Doctor The human body is complex, and many things can go wrong while a baby is developing. WebDiagnosing Septo-Optic Dysplasia By Philip M. Smith, MD, and Vivian Rismondo, MD Edited By Ingrid U. Scott, MD, MPH, and Sharon Fekrat, MD This article is from March 2006 and may contain outdated material. A checklist and writers guidelines are available at aao.org/eyenet/write-for-us. With an MRI, the ophthalmologist will be able to see the size of the optic nerve and view the optic chiasm. Patients with ONH exhibit an optic nerve that appears smaller than normal and different in appearance from small optic nerves caused by other eye conditions such as optic (nerve) atrophy.[3]. Absence of the septum pellucidum does not affect brain functions.Assessing the brain function of a child with poor vision can be difficult. The optic nerve is the nerve which transmits signals from the eyes retina to the brain. We do not endorse or specifically recommend the resources listed here. Dr. Garcia-Filions expertise is in database infrastructure and the application of research and statistical methodology to advance research objectives. View a curated list of resources for the classroom. These may include hormone therapy for hypopituitarism, occupational, physical, and/or speech therapy for other issues, and services of a teacher for students with blindness/visually impairment. Children can often present with nystagmus which is an abnormal movement (jiggling) of the eyeballs, sometimes described as roving or wandering eyes or rapid eye movements. 2005 - 2023 WebMD LLC, an Internet Brands company. What vision impairments are caused by ONH? Without careful monitoring, these conditions can be life-threatening. When the childs eyes are dilated, the ophthalmologist will note that the optic nerve is small and/or pale in color. When I did begin speaking however, it was in complete sentences. The vision of a child with ONH/Hypopituitarism can be quite variable ranging from normal to almost blind, or anywhere in between. Your doctor may choose to test your child for these variations. ONH is diagnosed by an ophthalmologist, who will use an ophthalmoscope to look inside the eye to determine if the front surface of the optic nerve appears smaller than normal. This study is designed to determine if early treatment with growth hormone in children with ONH and growth hormone deficiency can prevent adverse outcomes associated with ONH. What is the cause of ONH? [3][7], The posterior pituitary gland produces anti-diuretic hormone (ADH), which controls outflow of water from the body by urine. Children with optic nerve hypoplasia may need to work with a team of doctors, including endocrinologists and neurologists. Dr. Borchert, who has been listed in Best Doctors in America, also has received honors from the Pan American Association of Ophthalmology, the American Academy of Ophthalmology, and Society of Heed Fellows, as well as several teaching awards from the Keck School of Medicine of the University of Southern California. However, electrophysiologic testing is not routinely used in clinical practice. All of the endocrine conditions can be managed through daily medication routines. I loved to listen to the sounds of cars, especially the sounds their horns made when they honked or their ignitions started. A variation in one of these genes can lead to ONH/Hypopituitarism.

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