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Prosopagnosia01:24

Prosopagnosia

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Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
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Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
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Ocular Morpho-Functional Evaluation in ATTRv Pre-Symptomatic Carriers: A Case Series.

Martina Maceroni1,2, Benedetto Falsini1,2, Marco Luigetti2,3

  • 1Institute of Ophthalmology, Università Cattolica del Sacro Cuore, 00135 Rome, Italy.

Diagnostics (Basel, Switzerland)
|February 11, 2023
PubMed
Summary

Pre-symptomatic carriers of hereditary transthyretin amyloidosis (ATTRv) show early ocular changes, including reduced retinal thickness and altered vascular networks. These preclinical findings highlight the importance of comprehensive eye exams for early detection and potential intervention.

Keywords:
ATTRv pre-symptomatic carriersOCT-angiographyelectroretinogram (ERG)in vivo corneal confocal microscopy (IVCM)ocular biomarkersoptical coherence tomography (OCT)personalized medicinetransthyretin amyloidosis (ATTRv)

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Hereditary transthyretin amyloidosis (ATTRv) is a progressive disease.
  • Early detection of ATTRv is crucial for managing disease progression.
  • Ocular manifestations may serve as early indicators of ATTRv.

Purpose of the Study:

  • To investigate preclinical ocular findings in ATTRv pre-symptomatic carriers.
  • To identify potential early biomarkers of ATTRv in the eye.
  • To assess structural and functional retinal changes in individuals with the ATTRv genetic mutation but no clinical symptoms.

Main Methods:

  • Retrospective evaluation of 14 ATTRv pre-symptomatic carriers.
  • Optical coherence tomography (OCT) and OCT-angiography for retinal morphology.
  • Cone b-wave and photopic negative response (PhNR) for retinal function.
  • Pupillometry and in vivo corneal confocal microscopy (IVCM) were performed.

Main Results:

  • ATTRv carriers showed significantly reduced central macular thickness (CMT) and outer nuclear layer (ONL) thickness.
  • An attenuated superficial retinal vascular network and augmented PhNR amplitude were observed.
  • All carriers exhibited alterations in corneal confocal microscopy, despite lacking clinical symptoms.

Conclusions:

  • Preclinical ocular structural and functional abnormalities are present in ATTRv pre-symptomatic carriers.
  • Ophthalmological evaluation is recommended for baseline assessment and follow-up in ATTRv carriers.
  • Identifying ocular biomarkers could aid in early diagnosis and therapeutic strategies for ATTRv.