[A case report of autosomal recessive bestrophinopathy].

Abstract

The patient is a 40-year-old male who presented to the ophthalmology clinic due to easy visual fatigue for the past 3 months. Two months ago, the patient was misdiagnosed with "bilateral posterior uveitis", but the diagnosis was ruled out after ineffective treatment with corticosteroids. During the current visit, fundus examination revealed yellow-white material exudation below the macular center in both eyes. Considering the results of the ophthalmic examination and the genetic testing of the patient and his son, the patient was diagnosed with autosomal recessive bestrophinopathy.

• Authors: L R Lin, Y Chi, J Zhang, L Yang
• Journal: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology (Zhonghua Yan Ke Za Zhi) Vol. 59 Issue 7 Pg. 566-569 (Jul 11 2023) ISSN: 0412-4081 [Print] China
• PMID: 37408428 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Bestrophins
• Chloride Channels
• Eye Proteins

Topics

• Male
• Humans
• Adult
• Bestrophins
• Chloride Channels (genetics)
• Eye Proteins (genetics)
• Retinal Diseases (genetics, diagnosis)
• Tomography, Optical Coherence
• Fluorescein Angiography