Autosomal recessive bestrophinopathy
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| Autosomal recessive bestrophinopathy | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Ocular |
| Complications | Vision impairment |
| Usual onset | Childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare, about 20 cases have been described in medical literature |
| Deaths | - |
Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram.[1][2] Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma.[3][4]
It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11,[5][6][7][8][9] and it has been described in less than 20 individuals from 10 families worldwide.[10] Autosomal recessive bestrophinopathy (ARB) has also been reported in Sri Lanka, in what was described as the country's first genetically confirmed cohort.[11]