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Familial Benign Flecked Retina


Presentation

  • Presents a select team of experts, all of whom are true international leaders in retinal imaging, and have assisted in contributing to the diverse library of common and rare case illustrations.[books.google.com]
  • This patient demonstrates an unusual presentation of ARN, occurring after acute facial nerve palsy.[docslide.com.br]
  • Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200.[patient.info]
  • Presentation is in the first decade with nyctalopia. 4.[archive.org]
Physician
  • Quickly reference information with help from a convenient outline format, ideal for today’s busy physician.[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • They’ll notify that person’s primary-care physician, who may order additional tests or prescribe medicine to get the cholesterol under control. Extremely high blood pressure can affect vision, Csaky says.[dallasnews.com]
  • Case Report A 45-year-old woman was referred by her family physician to a routine eye examination without any specific ocular complaint. Visual acuities were 6/6 in both eyes without correction. Slit-lamp examination was normal.[healio.com]
Hunting
  • The ear vesicles docu- mented on examination lead us to believe that he had Ramsayâ Hunt syndrome, a form of varicella zoster infection involving cranial nerve VII and, less frequently, V, VI, VIII, IX and X, rather than idiopathic facial nerve palsy[docslide.com.br]
Retinal Lesion
  • Flecked-retina comprises a group of disorders with widespread or limited distribution of yellow-white retinal lesions of various sizes and configurations.[centogene.com]
  • lesions and no apparent visual or electrophysiological deficits.[iovs.arvojournals.org]
  • Symmetrical, round or oval, slightly elevated, yellow sub-retinal lesion 1/3 disc diameter in size (up to 1 DD). 2. Variable central pigmentation (dark spot in the center).[cram.com]
Visual Field Constriction
  • field constriction, and multiple yellow-white crystalline deposits at the retina, in circulating lymphocytes and, occasionally, at the corneoscleral limbus. 76, 77 Retinal crystals are observed predominantly at the posterior pole, in the superficial[entokey.com]
Skin Lesion
  • lesions,and careful examination for vesicles within the ear should be part ofany facial nerve evaluation.[docslide.net]
  • lesions, and careful examination for vesicles within the ear should be part of any facial nerve evaluation.[docslide.com.br]
Spastic Paraplegia
  • Kjellin syndrome, today better known as spastic paraplegia 15 (SPG15) is a neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs.[bredagenetics.com]
  • paraplegia 15, Alport syndrome, hyperoxaluria, Sjogren-Larsson syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome.[centogene.com]
  • Other disorders in which retinal flecks may be seen are: spastic paraplegia 15 ( 270700 ), hyperoxaluria ( 259900 ), Alport syndrome ( 301050 ), Bietti-crystalline-corneoretinal-dystrophy ( 210370 ), Sjogren-Larsson syndrome ( 270200 ), pantothenate kinase-associated[disorders.eyes.arizona.edu]
  • […] syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis SPG7 Spastic paraplegia TIMM8A Jensen syndrome, Mohr-Tranebjaerg syndrome[genda.com.ar]

Workup

  • [More] Chapter This chapter describes workup of a case of pterygium. Any patient presenting with pterygium should be worked up thoroughly before being planned for surgical excision.[jaypeedigital.com]
  • […] ocular conditions 1) aniridia 2) microspherophakia 3) buphthalmos 4) megalocornea 5) high myopia 6) uveal coloboma 7) Peter’s anomaly C) other 1) trauma 2) simple ectopia lentis (AD) (fibrillin) 3) ectopia lentis et pupillae (AR) 4) familial (AD) 7 Workup[studyres.com]
Pseudomonas
  • Pseudomonas Aeruginosa was cultured fromthe vitreous aspirate. Despite an intensive antibiotic regime thepatients ocular condition deteriorated.[docslide.net]
  • Pseudomonas Aeruginosa was cultured from the vitreous aspirate. Despite an intensive antibiotic regime the patientâs ocular condition deteriorated. A superior corneoscleral melt developed and progressed to perforation necessitating an evisceration.[docslide.com.br]

Treatment

  • Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new[books.google.com]
  • Treatment Treatment Options: No treatment is necessary.[disorders.eyes.arizona.edu]
  • […] developed following steroid mono- therapy initiated for treatment of (unrecognized) RamsayâHunt syndrome.[docslide.com.br]
  • Injection treatments with this and other drugs have since become one of the major advances in the treatment of patients with diabetic eye disease.[perthretina.com.au]

Prognosis

  • Prognosis is variable as severe disease may be seen in the young and mild disease in the elderly.[archive.org]
  • Prognosis - there is no progression.[patient.info]
  • . • prognosis for the maculopathy is poor • Seen typically in childhood or adolescence, but sometimes later • Patients with flecks only in the early stages have a relatively good prognosis and may remain asymptomatic for many years until the development[slideshare.net]
  • CONCLUSION The clinical findings in this family suggest a diagnosis of benign familial fleck retina with excellent prognosis, in which the PLA2G5 gene may play a role.[wwww.unboundmedicine.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • They found choroidal neovascular membranes in a total of four eyes in three patients who otherwise had no obvious etiologic factors for the development of CNVM.[reviewofoptometry.com]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • Epidemiology of hereditary ocular disorders. Dev Ophthalmol 37, 16–33 (2003). 4. Bundey, S. & Crews, S. J. A study of retinitis pigmentosa in the City of Birmingham. I Prevalence. J Med Genet 21, 417–420 (1984). 5. Peterlin, B. et al.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one.[patient.info]

Prevention

  • Like other forms of conjunctival autografting, the objective is to prevent abnormal conjunctiva and fibrovascular tissue from encroaching on the cornea and result...[jaypeedigital.com]
  • Corresponding spectralFinancial Disclosure: SHT is a fellow of the Burroughs-Wellcome Program in Biomedical Sciences and has been supported by the Bernard Becker-Associationof University Professors in Ophthalmology-Research to Prevent Blindness Award[docslide.net]
  • Corresponding spectral Financial Disclosure: SHT is a fellow of the Burroughs-Wellcome Program in Biomedical Sciences and has been supported by the Bernard Becker-Association of University Professors in Ophthalmology-Research to Prevent Blindness Award[docslide.com.br]
  • Vascular occlusion which prevents access of dye to the tissues. The occlusion may involve the choroidal circulation or the retinal arteries, veins or capillaries (capillary drop-out.) (sec Fig. 14.13). b.[archive.org]

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