Diagnosis retinal dystrophies. Medical search. Frequent questions

Assoc. Prof. Penny Allen, vitreoretinal surgeon and head of the Vitreoretinal Unit at The Royal Victorian Eye and Ear Hospital in Australia, provided updates on a futuristic bionic eye that can partially restore sight loss due to retinitis pigmentosa (RP), an umbrella term for many inherited retinal diseases. (piemagazine.org)
Leber congenital amaurosis (LCA) is the second most common group of inherited retinal dystrophies after retinitis pigmentosa, accounting for about 5% of all retinal dystrophies. (aao.org)
Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development of treatments for retinitis pigmentosa due to EYS mutations. (ucsf.edu)
Retinitis pigmentosa (RP) is one of the most common types of inherited retinal disease . (cera.org.au)
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. (asperbio.com)
Unilateral retinitis pigmentosa and cone-rod dystrophy. (medscape.com)
Furthermore, rod-cone dystrophies (also known as retinitis pigmentosa) are often discussed through the lens of three subgroups. (eyesoneyecare.com)
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat's like vasculopathy in retinitis pigmentosa patients. (biomedcentral.com)
CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. (biomedcentral.com)
The study included 279 patients from the retinitis pigmentosa research registry (comprising diagnosis within the whole IRD spectrum), hosted at the Department of Ophthalmology, Skåne University hospital, Sweden. (lu.se)

Family 3 (FAM3) consisted of a large family with a diagnosis of RP and an overall dominant pedigree, but the proband had phenotypically cone-rod dystrophy. (molvis.org)
In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. (asperbio.com)

These findings suggest that treatment with VN halts photoreceptor degeneration, with a partial recovery of retinal morphology, particularly in the perifoveal area," Testa said. (medscape.com)
Retinal dystrophies are a group of eye disorders characterized by the degeneration of different parts of the retina. (chop.edu)
Dysfunction or loss of photoreceptors is the primary cause of vision impairment in almost all cases of retinal and macular degeneration. (nih.gov)
Together these approaches are expected to have an impact on understanding EYS-related retinal degeneration, developing experimental treatment protocols, and assessing their effectiveness. (ucsf.edu)
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. (msdmanuals.com)
A thorough understanding of gene therapies for different RD subtypes may allow more personalized management of retinal degeneration. (hkjo.hk)
Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. (medscape.com)
Another 2019 study conducted by three ophthalmologists from Kaiser Permanente found that long term use of Elmiron caused retinal damage in 25% of their patients taking an average of 5,000 pills annually over a 15-year period, and that Elmiron toxicity may mimic macular degeneration, pattern dystrophy, and other well-known retinal conditions. (wilentz.com)
The is highly expressed in the later four developmental retinal stages, playing a vital role in retina degeneration. (bcm.edu)

LCA/EOSRD form part of a spectrum of inherited retinal dystrophies (IRDs) that cause severe visual loss at an early age. (gene.vision)
Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. (bcm.edu)
The project awarded to DBGen, in which doctors Rebeca Valero and Miquel Tuson also collaborate, will study several families with inherited retinal dystrophies (IRDs), a group of vision disorders that progressively lead to blindness. (ub.edu)
In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. (lu.se)

Retinal dystrophies are a genetically and phenotypically heterogeneous collection of eye diseases disturbing the function of photoreceptor cells and subsequently leading to loss of vision. (molvis.org)
This volume provides an update on retinal diseases, describing the genetic and pathophysiological basis of the diseases and advances in strategies to treat them. (cshlpress.com)
Retinal and macular diseases are a major cause of visual impairment and affect the quality of life of millions worldwide. (nih.gov)
Inherited retinal diseases generally progress very slowly. (piemagazine.org)
According to the university, DBGen Ocular Genomics, a leading company in the genetic diagnosis of ocular hereditary diseases, has several agreements with pharmaceutical companies and collaborations with institutions and patient associations at national and international level. (ophthalmologytimes.com)
Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. (hkjo.hk)
Altogether, inherited retinal diseases affect around 1 in 4000 people or over 2 million people worldwide. (cera.org.au)
But for most inherited retinal diseases, there is no potential medicine, surgery or ability to cure vision loss. (cera.org.au)
Pediatric retinal diseases are a different animal altogether. (justretina.com)
The Eye Genetics Research Unit aims to understand the genetic causes of eye diseases to improve diagnosis and treatment. (cmrijeansforgenes.org.au)
Genetic eye conditions, such as inherited retinal diseases, were difficult to genetically diagnose and considered untreatable for many years. (cmrijeansforgenes.org.au)
Genetic retinal diseases affect approximately 1 in 1,000 individuals, or more than five million people worldwide, and are the commonest cause of blindness in working-age people. (cmrijeansforgenes.org.au)
This work paves the way for genetic therapies for patients in NSW and other Australian states for genetic retinal diseases suitable for clinical trials. (cmrijeansforgenes.org.au)
While some AAV serotypes are in use for subretinal delivery in retinal diseases, there is a need for improved precision and efficacy through delivery of therapeutic constructs to the correct cells, and intravitreal delivery would add additional safety. (cmrijeansforgenes.org.au)
Discover how ophthalmologists can use genetic testing to evaluate patients for inherited retinal diseases. (eyesoneyecare.com)
An inherited retinal disease is an umbrella term that can be defined as a diverse range of genetic diseases that lead to photoreceptor and visual loss. (eyesoneyecare.com)
Table 1 outlines various inherited retinal diseases and the number of non-syndromic genes associated with them. (eyesoneyecare.com)
DBGen Ocular Genomics , a spin-off company of the University of Barcelona founded by professors Roser Gonzàlez-Duarte and Gemma Marfany Nadal and specialized in the genetic diagnosis of inherited eye diseases, has been selected in the third call of EASI-Genomics to carry out an innovative project to apply third-generation sequencing (long-read sequencing) for the resolution of complex genetic diagnoses in patients with retinal dystrophies. (ub.edu)
She leads the Ophthalmic and Developmental Genetics Unit of Ghent University, which is part of a Belgian reference center for the genetics and genomics of a wide variety of inherited eye disorders such as inherited retinal diseases (IRD). (ugent.be)

As mentioned, there are many genes that can cause retinal dystrophies, but at this time treatment is only clinically available for RPE65 -related disease. (chop.edu)
1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. (molvis.org)
Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted NGS. (molvis.org)
To date, 256 genes listed in RetNet have been associated with syndromic and non-syndromic retinal dystrophies, which can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait ( RetNet ). (molvis.org)
There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
According to a news release from the University of Barcelona, hereditary retinal dystrophies are pathologies affecting more than 20,000 people in Spain and can be caused by more than 200 genes, 70 of which are associated with RP and LCA. (ophthalmologytimes.com)
Moreover, the university noted in the release the access to the first gene therapy requires a diagnosis that identifies the mutated genes in each patient. (ophthalmologytimes.com)
Using patient-derived hiPSC-retinal organoids and RPE and application of RNA-based analyses, we are investigating non-canonical splice site, as well as missense variants in RPGR , IQCB1 , RPE65, PDE6B and other retinal disease genes. (cmrijeansforgenes.org.au)
Congenital stationary night blindness and cone-rod dystrophies are associated with two of the same genes. (eyesoneyecare.com)
Table 2 lists the number of identified genes and loci per inherited retinal disease category. (eyesoneyecare.com)
The genes on this panel are included in the Retinal Dystrophy Panel. (blueprintgenetics.com)

Jason Comander, MD, PhD , director of the inherited retinal disorders service at Massachusetts Eye and Ear and assistant professor of ophthalmology at Harvard Medical School in Boston, said that although this isn't the first report of children who received VN, the results were "particularly positive. (medscape.com)
The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. (nih.gov)
Retinal disorders affect this vital tissue. (medlineplus.gov)
In a special session yesterday at the RANZCO 52nd Annual Scientific Congress, experts shared tips on how to diagnose and treat this group of degenerative and hereditary retinal disorders. (piemagazine.org)
This variability has led in recent years to some confusion about terminology and the clinical diagnosis of this group of disorders. (aao.org)
Inherited retinal dystrophies are disorders passed down through families. (teranews.in)

Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. (nih.gov)
According to Assoc. Prof. Andrea Vincent from the University of Auckland, New Zealand, clinical phenotyping in inherited retinal disease can be used to guide clinicians in making a genetic diagnosis. (piemagazine.org)
Diagnosis of facioscapulohumeral muscular dystrophy is indicated by characteristic clinical findings, age at onset, and family history and is confirmed by DNA testing. (msdmanuals.com)
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. (hkjo.hk)
Retrospective case-series METHODS: Twelve patients (ten families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric genetic eye clinics and underwent full clinical assessment including retinal imaging. (ed.ac.uk)
Clinical diagnosis in the era of DNA testing. (doximity.com)
Is ideal for patients with a clinical suspicion / diagnosis of achromatopsia. (blueprintgenetics.com)
In this study, a consanguineous Iranian family with three generations was recruited whom presented with the clinical diagnosis of autosomal recessive IRD. (bcm.edu)

In our research studies we investigate patient-derived human induced pluripotent stem cells differentiated to retinal organoids, to determine underlying disease mechanisms and test new genetic therapies. (cmrijeansforgenes.org.au)
The human retina is an inaccessible organ for functional biological assays, so human induced pluripotent stem cell (hiPSC)-derived retinal organoids and RPE cells provide an exciting solution system for improved diagnosis and for assessment of therapies in these conditions. (cmrijeansforgenes.org.au)
We have selected two retinal dystrophies for development of novel gene replacement therapies, due to their suitable gene size for this approach. (cmrijeansforgenes.org.au)
Fovea Pharmaceuticals and Genzyme will work together to develop gene therapies for retinal dystrophies. (genengnews.com)

A posterior vitreous is different to a retinal detachment , although the two can be related. (mdfoundation.com.au)
Premature infants can develop Retinopathy of Prematurity, a vascular abnormality that can lead to severe retinal detachment. (justretina.com)
The diagnosis of Leber congenital amaurosis was suggested, and a genetic CRB1 sequencing for the patient and her two younger siblings, who also had severe vision loss, was done, upon which the diagnosis of Leber congenital amaurosis associated with exudative retinal detachment due to coat's like vasculopathy was made. (biomedcentral.com)
In severe cases this disorder may progress to total retinal detachment and visual loss in the context of longstanding RP [ 5 ]. (biomedcentral.com)

CHICAGO - Children with a rare, inherited retinal disorder who were treated with the first Food and Drug Administration-approved gene therapy had noticeable improvements in vision that may be related to recovery of photoreceptor health, according to a study of six patients in Italy presented at the annual meeting of the American Academy of Ophthalmology. (medscape.com)
A gene therapy called Luxturna ® is a new breakthrough in care for individuals with an inherited retinal dystrophy due to two mutations in the gene RPE65 . (chop.edu)
What type of gene therapy is available for retinal dystrophies? (chop.edu)
In 2017, a gene therapy called Luxturna was approved by the U.S. Food and Drug Administration for use in children and adults with retinal disease due to two mutations in the gene RPE65 . (chop.edu)
How does gene therapy for inherited retinal dystrophies work? (chop.edu)
Thanks to gene therapy for LCA, a retinal disease that causes blindness, Hannah is seeing the stars. (chop.edu)
From Bionic Eye to Gene Therapy: Is futuristic technology the way forward in the fight against retinal dystrophy? (piemagazine.org)
The treatments are very expensive, and they're limited to a relatively small number of our patients at this stage," said Dr. Thomas Edwards, vitreoretinal surgeon and head of Retinal Gene Therapy Research at the Centre for Eye Research Australia, who presented the potential of gene therapy for inherited retinal disease. (piemagazine.org)
For choroideremia, REP1 gene therapy has been shown to improve visual acuity and retinal sensitivity. (hkjo.hk)
Gene therapy in retinal dystrophies. (hkjo.hk)
Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis. (doximity.com)
New opportunities for gene therapy and diagnosis for the blinding eye disease, retinal dystrophy, may now become available following work done by the Eye Genetics Research Unit at the Children's Medical Research Institute. (luminesce.org.au)
AANEM 2023 DMD Gene Therapy Safe, Effective at 4 Years Four years after a single dose of SRP-9001 gene therapy, four children with Duchenne muscular dystrophy show sustained stabilization of motor function that would otherwise show expected decline. (medscape.com)

Our investigations utilize in vivo mouse retina and human retinal organoids derived from pluripotent stem cells as study systems. (nih.gov)
Single cell transcriptomic studies in retinal organoids are used to interrogate pathways affected in these retinal conditions. (cmrijeansforgenes.org.au)
We are testing these therapeutic constructs in our mouse models, and patient-derived retinal organoids. (cmrijeansforgenes.org.au)

Retinal dystrophies (RDs) are the leading cause of hereditary blindness with the following common presentations: color blindness or night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. (piemagazine.org)
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS). (cdc.gov)
MIM# 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness [ 1 ]. (biomedcentral.com)

The patients all had an inherited retinal dystrophy caused by mutation of the biallelic RPE65 gene. (medscape.com)
Luxturna provides a working copy of the RPE65 gene to the retinal cells of the eye. (chop.edu)
For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. (hkjo.hk)
Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. (hkjo.hk)
Durability of voretigene neparvovec for biallelic RPE65-mediated inherited retinal disease: phase 3 results at 3 and 4 years. (hkjo.hk)

What are intrinsic control mechanisms that lead to photoreceptor cell fate from retinal progenitors? (nih.gov)

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. (hkjo.hk)
The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies. (cdc.gov)
Excitingly, our genomic research studies have successfully led to genetic diagnoses and understanding of disease mechanisms. (cmrijeansforgenes.org.au)
The funding of this project will promote DBGen collaboration with SciLifeLab Uppsala (Sweden), pionner center in Europe for genomic sequencing and bioinformatics applied to genetic diagnosis. (ub.edu)
The innovative genomic methodology of long-read sequencing will be applied to analyze difficult genetic diagnoses, which until now cannot be solved by conventional short-read sequencing (NGS) approaches. (ub.edu)

At IIT, her main activity was related to a novel retinal device based on photovoltaic conjugated polymers able to modulate neuronal activity upon illumination at the level of membrane potential in cultured neurons, or more complex neuronal networks like retina explants. (iit.it)
In some rare cases, the vitreous pulling away from the retina can cause a retinal tear or traction at the macula. (mdfoundation.com.au)
By this process, tumor cells expressing antigenic epitopes with retinal photoreceptors elicit an immune response that cross-reacts with the retina, disrupting normal signal transmission. (reviewofophthalmology.com)
Retinal dystrophies (RD) refer to a group of clinically and genetically heterogenous degenerative conditions of the retina. (hkjo.hk)

In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. (molvis.org)
Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. (molvis.org)

This project seeks to elucidate transcriptional and post-transcriptional regulatory networks that determine cell fate and guide the development of photoreceptors from retinal progenitor cells. (nih.gov)
We are now focused on delineating the transcription factors and signaling pathways that are responsible for generating photoreceptors from retinal progenitor cells. (nih.gov)

The first inherited retinal disease (IRD) was identified in 1988 after a mutation in the OAT gene, responsible for ornithine aminotransferase, was discovered. (eyesoneyecare.com)

Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). (asperbio.com)
Other eye damage and side effects linked to Elmiron include diagnoses of retinopathy, retinal maculopathy, retinal pigment epithelium atrophy, and macular retinopathy have also been linked in studies of patients with chronic exposure to Elmiron. (wilentz.com)

Recent years have seen a marked increase in laser-pointer-related injuries, which sometimes involve severe retinal damage and irreversible visual impairment. (aerzteblatt.de)
Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. (asperbio.com)

Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. (msdmanuals.com)
Facioscapulohumeral muscular dystrophy is characterized by weakness of the facial muscles and shoulder girdle. (msdmanuals.com)
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. (msdmanuals.com)

Monitoring for retinal vascular abnormalities is essential to prevent blindness. (msdmanuals.com)
In animal models of congenital stationary night blindness, gene augmentation of Cacn1f , LRIT3 or Nyx increases ON-bipolar cell signaling cascade and preserves retinal morphology. (hkjo.hk)
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, increased sensitivity to light (photophobia), and severely reduced visual acuity due to the absence or impairment of cone function. (blueprintgenetics.com)
LCA accounts for at least 5 % of all retinal dystrophies and is one of the main causes of blindness in children [ 2 ]. (biomedcentral.com)

Efficient generation of retinal progenitor cells from human embryonic stem cells. (hkjo.hk)

however, advanced findings may include any combination of optic nerve pallor, attenuated retinal vasculature, retinal pigment epithelial changes and vitreous cells. (reviewofophthalmology.com)
They are caused by abnormality of photoreceptor (PR) cells, with retinal pigment epithelial (RPE) cells also affected. (cmrijeansforgenes.org.au)

For those aged 18-50 years, retinal dystrophies (37%), congenital eye anomalies (14%) and myopic degenerations (13%) were the most common causes. (who.int)

Patients will have frequent follow-up visits with the surgeon and retinal specialist in the initial postoperative period. (chop.edu)
After cleared to travel home, patients should have follow-up visits with a retinal specialist at least once a year. (chop.edu)
Patients with a diagnosis not meeting the definition were "unknown. (nih.gov)
Nearly half of these patients presented with visual symptoms prior to the diagnosis of their underlying malignancy. (reviewofophthalmology.com)
Unlike CAR, which frequently precedes the discovery of systemic malignancy, patients with melanoma-associated retinopathy (MAR) usually carry an existing diagnosis of melanoma. (reviewofophthalmology.com)
In 2021 it was selected in the third call of EASI-Genomics -an initiative of the European Union to support innovative genomics projects - to promote the application of long-read sequencing to solve complex genetic diagnoses in patients with retinal dystrophies. (ophthalmologytimes.com)
The university added in its news release the company's agreement with Novartis, which will be active until 2024, will enable a total of 150 genetic diagnoses to be conducted in patients affected by these pathologies. (ophthalmologytimes.com)
Twelve patients from six families, with a median age at diagnosis of 43 years (range 3-68) were included (11 MPS IIIA, 1 MPS IIIB). (biomedcentral.com)
two patients presented with retinal dystrophy, one with hypertrophic cardiomyopathy and one with neurocognitive decline. (biomedcentral.com)
Nine patients had retinal dystrophy and 8 patients hypertrophic cardiomyopathy. (biomedcentral.com)
A follow-up study in 2019 of 10 patients demonstrated similar structural retinal damage from chronic exposure to Elmiron. (wilentz.com)
This report emphasizes the importance of genetic testing in such patients, which can aid not only in the diagnosis and management but also in providing counseling to parents regarding the significance of prenatal diagnosis in future pregnancies, helping them make informed choices. (springeropen.com)
Breaking Barriers to CRC for Black Patients Access to care for the highly preventable disease is thought to be behind why Black Americans are 20% more likely to receive a colorectal cancer diagnosis than any other racial or ethnic group. (medscape.com)
ANAC 2023 No Longer a Death Sentence, HIV Diagnosis Still Hits Hard HIV can take an emotional toll on patients whether it was diagnosed days ago or decades before, but the issues patients must contend with have changed over time. (medscape.com)
In 7% of the patients there was a discrepancy between the diagnosis made based on phenotypical or genotypical findings alone. (lu.se)
In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, West syndrome or hydrocephalus), making differentiation between acquired and genetic not possible. (medscape.com)
Dès le début de la pandémie, l'établissement hospitalier et universitaire d'Oran (EHUO), centre de soins de première ligne, d'une capacité 780 lits desservant environ 2 millions d'habitants s'est complètement réorganisé, en aménageant principalement des circuits pour le tri des patients « suspects Covid 19 ¼. (bvsalud.org)

Due to its variable presentation, the diagnosis of achromatopsia may be challenging, and exome sequencing has proven to be a crucial diagnostic tool. (springeropen.com)

Ocular examination involves assessment of visual acuity and pupillary reaction, as well as anterior segment, retinal, and funduscopic evaluation. (medscape.com)

Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
Image courtesy of Steven Moore, Wellstone Muscular Dystrophy Cooperative Research Center, University of Iowa. (comprehensivephysiology.com)

Retinal flecks are commonly observed in both Stargardt disease and fundus flavimaculatus (FFM). (bmj.com)

Laser pointers can cause persistent retinal damage and visual impairment. (aerzteblatt.de)
The specific causes of visual impairment vary greatly with age, however, unavoidable retinal pathologies were the predominant causes at all ages. (who.int)

In 1955, Jeune et al described familial asphyxiating thoracic dystrophy in a pair of siblings with severely narrow thoraxes. (medscape.com)

Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis. (cdc.gov)

31 The electroretinography findings in CAR are illustrative of global retinal dysfunction, with severely reduced, if not extinguished, scotopic and photopic a- and b-waves. (reviewofophthalmology.com)
Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). (medscape.com)

The aim was to determine the precise localisation of these flecks within the retinal layers using Stratus optical coherence tomography (OCT). (bmj.com)
Six to 12 Stratus OCT linear scans focused on the retinal flecks were performed in each eye. (bmj.com)
OCT may therefore be useful in the diagnosis of retinal flecks in some cases of FFM. (bmj.com)

Any damage to retinal neurons can have devastating consequences, including loss of vision. (nih.gov)
Multipotent retinal progenitors express developmental markers, differentiate into retinal neurons, and preserve light-mediated behavior. (hkjo.hk)

With a latency period averaging 3.6 years from diagnosis of the primary neoplasm (ranging two months to 19 years), the onset of MAR often heralds the presence of nonocular metastasis. (reviewofophthalmology.com)

The workflow steps in the genetic diagnosis of FSHD1 and FSHD2. (comprehensivephysiology.com)

Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. (molvis.org)
The Centers for Disease Control and Prevention (CDC) also supports early identification and evaluation of motor delays to enable a quicker referral to a specialist for diagnosis. (medscape.com)
RP is a type of inherited retinal disease. (cera.org.au)
Currently, there may be a possible treatment for a very rare inherited retinal disease caused by a specific gene. (cera.org.au)
FDA approves first retinal implant for adults with rare genetic eye disease [news release]. (medscape.com)
What qualifies as an inherited retinal disease? (eyesoneyecare.com)

Anatomy10

Organisms2

Diseases37

Chemicals and Drugs21

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Psychiatry and Psychology4

Phenomena and Processes28

Information Science3

Health Care5

Retinitis10

Cone-rod dystr2

Degeneration9

IRDs4

Diseases19

Genes11

Disorders6

Clinical8

Therapies4

Detachment4

Gene therapy13

Organoids3

Hereditary3

RPE656

Lead to photore1

Genomic5

Retina4

Mutations2

Photoreceptors2

Mutation1

Atrophy2

Severe2

Facioscapulohumeral muscular3

Blindness4

Progenitor cells1

Pigment epithelial2

Degenerations1

Patients17

Achromatopsia1

Ocular1

Muscular Dystrophy2

Fundus1

Visual impairment2

Familial1

Phenotypes1

Findings2

Flecks3

Neurons2

Onset1

Genetic diagnosis1

Disease6