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Expression and Purification of Mammalian Bestrophin Ion Channels
Published on: August 2, 2018
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Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
C Crowley1, R Paterson, T Lamey
1Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA, 6009, Australia, claire.crowley86@gmail.com.
Documenta Ophthalmologica. Advances in Ophthalmology
|May 27, 2014
Summary
A novel BEST1 gene mutation caused autosomal recessive bestrophinopathy (ARB) and angle-closure glaucoma in a young male. This highlights the importance of screening for glaucoma in patients with bestrophinopathies.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Abnormalities in the BEST1 gene are linked to autosomal recessive bestrophinopathy (ARB), a condition with variable presentation.
- ARB shares retinal deposits, reduced electro-oculography (EOG) light rise, and glaucoma risk with autosomal dominant Best vitelliform macular dystrophy (BVMD).
Observation:
- A young male presented with deteriorating vision, subretinal and schitic lesions, and abnormal EOG/electoretinography.
- Clinical examination revealed findings consistent with ARB and angle-closure glaucoma.
Findings:
- Genetic testing identified a novel homozygous mutation in BEST1 (c.636+1 G>A) in the proband.
- The proband was diagnosed with ARB and angle-closure glaucoma requiring medical and surgical intervention.
- Family members carrying one copy of the mutation showed no disease evidence.
Implications:
- Distinguishing between ARB and BVMD is challenging due to phenotypic overlap and variable expressivity.
- Comprehensive eye examinations, including screening for narrow angles and glaucoma, are crucial for all patients diagnosed with ARB or BVMD.
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