Edit concept Question Editor Create issue ticket

Retinitis Pigmentosa 32

RP32


Presentation

  • Presents a more streamlined format to the printed text to help you focus on the clinically actionable information you need everyday.[books.google.com]
  • The intron 3 a g change, which creates a recognition site for the restriction enzyme Aci I, was found to be present in the heterozygous state in the parents from families RP112, PMK214, and RP23/91 in whom a heteroduplex band had been observed, and in[jmg.bmj.com]
  • Molecular genetic testing is available on a clinical basis for p.M390R, the common mutation in BBS1 that is present in approximately 18% - 32% of individuals with BBS and p.C91LfsX4 (also known as C91fsX95), a common mutation in BBS10, that is present[scielo.br]
Surgical Procedure
  • View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery.[books.google.com]
  • View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com , fully searchable, with regular updates and a downloadable image gallery .[books.google.de]
Cerebral Palsy
  • Palsy, Ataxic, Autosomal Recessive cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal syndrome 4 Cerebroretinal microangiopathy with calcifications and cysts Chang Davidson Carlson syndrome Chromosome Xp11.3 Deletion Syndrome Cochleosaccular[rgd.mcw.edu]
Erythema
  • Supplementation with beta-carotene or a similar amount of mixed carotenoids protects humans from UV-induced erythema. J Nutr 2003;133(1):98-101. View abstract. Herron, K. L., McGrane, M. M., Waters, D., Lofgren, I. E., Clark, R. M., Ordovas, J.[webmd.com]
Areflexia
  • BACKGROUND: The authors reported previously a genetic syndrome that causes visual impairment, proprioceptive loss, sensory ataxia, and areflexia in affected individuals from a large, inbred family belonging to a sectarian population that has been genetically[ncbi.nlm.nih.gov]
  • Background: The authors reported previously a genetic syndrome that causes visual impairment, proprioceptive loss, sensory ataxia, and areflexia in affected individuals from a large, inbred family belonging to a sectarian population that has been genetically[n.neurology.org]
  • The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness.[orpha.net]
Neuralgia
  • Morphia thus used is of the utmost value to relieve pain, and is most potent, in certain forms of neuralgia, the nearer it is applied to the seat of the suffering. " 3. Morphia lowers the pulse slightly or not at all... ‎[books.google.de]

Workup

  • FFA, ICG Cancer workup Antibodies to recoverin, α-enolase, transducin-α, and carbonic anhydrase II VF visual field, VA visual acuity, PSC posterior subcapsular cataract, AF autofluorescence, ONL outer nuclear layer, FFA fundus fluorescein angiography,[retinalphysician.com]

Treatment

  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • Put the very latest scientific and genetic discoveries , diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.de]
  • Pac, Lucknow • Average Ratings ( 249 Reviews & Ratings ) Frequently Searched Treatments In 32 Bn. Pac[practo.com]

Prognosis

  • Prognosis • AR has favorable prognosis, retention of central vision until 5th -6th decade. • AD best prognosis, retention of central vision beyond 6th decade • XL worst prognosis with severe visual loss by the 4th decade. 27.[slideshare.net]
  • Prognosis Chronic progressive degeneration with continuing visual impairment may occur.[amboss.com]
  • Prognosis The disease evolves progressively, in some cases leading to a total loss of walking ability and vision after 10 to 30 years of progression. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Currently, there is no therapy that stops or slows down the progression of the disease or restores the vision thus, visual prognosis is poor.[ncbi.nlm.nih.gov]

Etiology

  • […] eyeball (at the macula or in the perimacular region) due to a defect in the pigment epithelium Pathophysiology : defect in the area of Bruch's membrane /pigment epithelium fluid leakage from the sclera into the subretinal space serous retinal detachment Etiology[amboss.com]
  • “When unusual subjective symptoms are not explained by changes in the anterior segment, a dilated fundus exam and ancillary imaging such as OCT and automated VF must be used to properly diagnose the etiology,” he says.[reviewofoptometry.com]
  • Etiology The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31).[orpha.net]
  • Conclusion: A better understanding of clinical features and genetic etiology of Coats-type retinitis pigmentosa will aid diagnosis and development of new therapies.[ncbi.nlm.nih.gov]

Epidemiology

  • Degenerative retinoschisis Epidemiology : common Morphology : splitting most frequently occurs in the outer plexiform layer Clinical features : often asymptomatic Diagnostics : Ophthalmoscopy shows “water blisters ” on the retina.[amboss.com]
  • Summary Epidemiology Around 20 cases have been described in the last 50 years. Clinical description Onset of symptoms usually occurs in childhood.[orpha.net]
  • Epidemiologic Data from the Years 1901 to 2000: Prevalence Rates According to January 1, 2006 Data T able 1.[iovs.arvojournals.org]
  • The results of our review can serve as a platform for formulating RP-centred health policies and in encouraging the involved countries towards maintaining an epidemiological register.[jpma.org.pk]
Sex distribution
Age distribution

Pathophysiology

  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]
  • Retinopathy of prematurity ( ROP ) Definition : disease of the retina with abnormal vessel proliferations that affects preterm infants Pathophysiology Risk factors Premature birth Ventilation or oxygen administration Birth weight 1500 g Blood transfusions[amboss.com]

Prevention

  • Researchers believe the cells will release proteins that will keep the patient's existing photoreceptors healthy, preventing their degeneration and preserving vision.[blindness.org]
  • No therapy or prevention is known.[amboss.com]
  • Thermal Interface Phase Change Material Electrically Conductive Thermal Interface Materials Thermally Conductive Electrical Insulators Thermal Grease Venting and Filtration Materials For the management of temperature, humidity, gases and pressure, and the prevention[parafix.com]
  • Whole blood storage conditions for viagra Jan 15, 2018 (Revatio) is used to improve the ability to exercise in adults with pulmonary arterial hypertension (PAH; high pressure in the vessels sildenafil carrying to the does not prevent pregnancy or the[lluna.ru]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!