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Results 11 - 20 of 31 for retinitis pigmentosa
  • Proteostasis and Disease
    Health - 27 Feb 2019
    Proteostasis or protein homeostasis is a cellular network essential for the strict control of protein synthesis, protein folding, maintenance of conformation, and protein degradation. Depending on the...
  • What is Leigh's Syndrome?
    Health - 26 Feb 2019
    Leigh’s syndrome (LS) or subacute necrotizing encephalomyelopathy was first described by the neuropathologist Denis Leigh in a 7-month infant who had died of the disease, and on whom he performed an...
  • Charles Bonnet Syndrome Management
    Health - 26 Nov 2018
    Charles Bonnet Syndrome (CBS) is an ophthalmologic condition present in about one-third of persons with visual impairment. Patients with CBS experience various forms of visual hallucinations caused by...
  • What Causes Color Blindness?
    Health - 6 Jul 2023
    The exact cause of color vision deficiency is unknown. In most individuals, the condition is an inherited disorder and around 5% of the general population are color vision deficient.
  • Bardet-Biedl Syndrome Pathophysiology
    Health - 10 Jun 2023
    Bardet-Biedl Syndrome is a genetically inherited condition. It is the result of inheriting mutations or alterations in the genes. At least 14 different genes have been identified that may be mutated...
  • The Chemistry of Human Vision – The Retinoid Cycle
    Health - 20 Apr 2022
    The retinoid cycle, also called the visual cycle, is a complex system which replenishes the compounds that are needed for light to activate the receptors in the eye. This cycle was first described in...
  • What is Barakat Syndrome?
    Health - 1 Dec 2021
    The Barakat syndrome, also known as HDR syndrome, is a clinically variable (heterogeneous) rare genetic condition first identified by Barakat et al. in 1977.
  • What is Usher Syndrome?
    Health - 11 Mar 2021
    Usher syndrome is a rare genetic disorder that affects approximately 1 in 25,000 babies born and causes hearing and vision loss, often accompanied by balance problems. The syndrome accounts for 3-6%...
  • Noonan Syndrome Symptoms
    Health - 9 Feb 2021
    Noonan syndrome is one of the most common non-chromosomal disorders in children with congenital heart disease.
  • Primary Ciliary Dyskinesia Genetics
    Health - 27 Feb 2019
    Primary ciliary dyskinesia (PCD) is a congenital disorder of heterogeneous genetic origin. It is inherited in an autosomal recessive manner.

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