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[Ocular involvement in familial amyloid polyneuropathy].

Author: AdamsD, BarreauE, CauquilC, KaswinG, LabetoulleM, M'garrechM, MinchevaZ, RousseauA, ThéaudinM

ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
English AbstractA summary of a research paper/publication written in English for a wider audience.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

Familial amyloid polyneuropathy (FAP) is a rare, inherited disorder that affects the nerves, heart, kidneys, and eyes. It is caused by a buildup of abnormal protein in the body. Liver transplantation can stop the progression of the disease in 70% of cases and doubles the median survival of patients. Tafamidis is a new drug that can help to delay the development of neurological complications. Ocular manifestations of FAP are common and include keratoconjunctivitis sicca, glaucoma, and vitreous deposits.
Paper Details　
Original Abstract of the Article :
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, cardiac and rena...See full text at original site
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引用元：
https://doi.org/10.1016/j.jfo.2013.04.005

データ提供：米国国立医学図書館（NLM）

Navigating the Shifting Sands of Familial Amyloid Polyneuropathy

Familial amyloid polyneuropathy (FAP), a debilitating genetic disorder, presents a formidable challenge for medical professionals. This study, like a seasoned camel guide leading a caravan through a complex desert landscape, meticulously examines the ocular manifestations of FAP. The authors delve into the pathophysiology, clinical findings, and treatment options for ocular involvement, highlighting the impact of this disorder on vision.

A Shifting Landscape: The Impact of Familial Amyloid Polyneuropathy on Ocular Health

This research sheds light on the significant ocular complications associated with FAP, a rare but devastating genetic disorder. The authors provide valuable insights into the prevalence and progression of these complications, including keratoconjunctivitis sicca, secondary glaucoma, and vitreous deposits. While liver transplantation (LT) has proven effective in halting the progression of the neuropathy, it does not address ocular involvement.

Protecting Your Vision: Early Detection and Comprehensive Care

Early detection and proactive management are crucial for maintaining good vision when dealing with FAP. Regular eye exams, particularly in individuals with a family history of this disorder, are essential for identifying any early signs of ocular involvement. It's also important to consult with a qualified ophthalmologist for proper management of any vision-related complications.

Dr.Camel's Conclusion

This study underscores the importance of comprehensive care and vigilant monitoring in managing FAP. Just as a wise camel guide must be attuned to the subtle shifts in the desert landscape, healthcare professionals must be mindful of the potential ocular complications associated with this complex disorder. By understanding the intricacies of FAP and adopting a proactive approach to patient care, we can strive to protect the vision and overall well-being of individuals affected by this debilitating disease.

Date :
  1. Date Completed 2014-07-01
  2. Date Revised 2022-03-21
Further Info :

Pubmed ID

24144522

DOI: Digital Object Identifier

10.1016/j.jfo.2013.04.005

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Languages

French

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