• optical coherence
  • A correct diagnosis of the early-onset childhood retinal dystrophies requires careful clinical evaluation, the detection of suggestive or pathognomonic ophthalmoscopic clues, the use of electrophysiology to document characteristic electroretinographic findings and, in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. (bmj.com)
  • All participants underwent ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests and optical coherence tomography (OCT). Electrophysiological studies were also performed. (diva-portal.org)
  • Best-corrected visual acuity (BCVA), funduscopic appearance, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and electro-oculography (EOG) were assessed in 23 consecutive subjects from nine unrelated families with known mutations in the BEST1 gene (eight distinct BEST1 mutations). (arvojournals.org)
  • blindness
  • A Food and Drug Administration advisory committee endorsed the first gene therapy for an inherited disorder - a rare condition that causes a progressive form of blindness that usually starts in childhood. (ksmu.org)
  • Researchers are also testing gene therapy for other causes of blindness and blood disorders such as sickle cell disease. (ksmu.org)
  • Glen of Imaal Terrier - CRD3 results in gradual blindness with onset around 4 years of age (often detectable as retinal thinning as early as 3 years of age). (wikipedia.org)
  • genetically
  • The FDA recently approved the first so-called gene therapy product, which uses genetically modified cells from the immune system to treat a form of leukemia. (ksmu.org)
  • We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. (hindawi.com)
  • in 2004, led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities, leading to the proposal of the term "Jalili syndrome" by Parry et al. (wikipedia.org)
  • photoreceptors
  • A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (wikipedia.org)
  • cilia
  • The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. (wikipedia.org)
  • citation needed] A theory that photoreceptor cells are nourished by the IFT of retinal cilia now offers a potential explanation for the retinal dystrophy common in BBS patients after their early years of life. (wikipedia.org)
  • muscular
  • Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)-originally named Landouzy-Dejerine-is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). (wikipedia.org)
  • On 19 August 2010, a paper entitled A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy was published in Science showing that the candidate gene DUX4 undergoes a "toxic gain of function" as a result of single nucleotide polymorphisms in the region distal to the last D4Z4 repeat. (wikipedia.org)
  • RP is seen clinically in association with several other rare genetic disorders (including muscular dystrophy and chronic granulomatous disease) as part of McLeod syndrome. (wikipedia.org)
  • It can be mistaken for other forms of heart disease and/or muscular dystrophies, including Pompe disease. (wikipedia.org)
  • multiple genes
  • Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules. (wikipedia.org)
  • syndrome
  • Mutations in this gene are associated with hydrolethalus syndrome. (nih.gov)
  • Mutations in the TMEM67 gene are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L [ 5 ]. (hindawi.com)
  • Mutations in these various genes are known for causing around 60-90% of Joubert Syndrome cases. (wikipedia.org)
  • The likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25% with each pregnancy. (wikipedia.org)
  • This means both parents have to pass a copy of the ALMS1 gene in order for their child to have the syndrome even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
  • Mutations in the CDH3 gene can also appear in EEM syndrome. (wikipedia.org)
  • The Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene, CNNM4. (wikipedia.org)
  • Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene. (wikipedia.org)
  • symptoms
  • The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. (wikipedia.org)
  • Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. (wikipedia.org)
  • Some of the symptoms include: Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood. (wikipedia.org)
  • defective gene
  • The availability of these tools has allowed a precise gene editing, such as knockout of a specific gene or the correction of a defective gene by means of homologous recombination (HR), taking advantage of the endogenous cell repair machinery. (intechopen.com)
  • It is still considered to be unknown on how the defective gene causes the disorder. (wikipedia.org)
  • disorders
  • Mutations in the PRPH2 gene cause a variety of other retinal disorders. (nih.gov)
  • It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. (wikipedia.org)
  • As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells develop abnormally, and degenerative, where the cells develop normally but then degenerate during the dog's lifetime. (wikipedia.org)
  • Proteins
  • All the causative JS genes identified to date encode proteins that are localized to the base or axoneme of the cilium [ 6 ]. (hindawi.com)
  • The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. (wikipedia.org)
  • clinical
  • Molecular diagnosis confirms the clinical diagnosis and provides the basis for possible future gene therapy. (bmj.com)
  • In this paper, phenotypic clues to the diagnosis of the underlying molecular defect in patients with Leber congenital amaurosis are discussed and an overview of the clinical workup of the child with a retinal dystrophy is presented. (bmj.com)
  • Potential strategies to follow in a HSC gene editing clinical protocol. (intechopen.com)
  • Nevertheless, genetic heterogeneity and clinical variability are obstacles for the identification of disease-associated genes. (uni-oldenburg.de)