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KMID : 1151620190040020093
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Journal of Retina
2019 Volume.4 No. 2 p.93 ~ p.96
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Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
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Kocer Ali Mert
Teke Mehmet Yasin
Sogut Furkan Emre
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Abstract
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Purpose: We aimed to report a patient with autosomal recessive bestrophinopathy (ARB) who have novel compound heterozygous mutations in BEST1
Case summary: A 35-year old male patient who had no history of known trauma and disease was admitted to our hospital with bilateral visual disturbance since his childhood. Dilated fundus examination revealed widespread yellow-white subretinal accumulation and white scar formation on both posterior poles. Hyperfluorescent foci were observed along the vessel arcades in fundus autofluorescence imaging. Optical coherence tomography showed serous subretinal fluid under the bilateral macula. Arden rate was found to be 1.32 for right eye and 1.28 for left eye in the electrooculography examination. Bestrophinopathy was considered in the patient and a genetic examination test was performed for BEST1 gene. The whole gene sequence analysis test (Miseq-Illumina) performed on the BEST1 gene of the patient resulted in c.604C>T (p.Arg202Trp) (pR202W) /c.1013G>A (p.Trp338 *) (p.W338*) compound heterozygous mutation
Conclusions: ARB is a rare disease and usually associated with consanguineous marriage, the disease may also occur with different mutations of both spouses. For this reason, it is important that ophthalmologists consider the possibility of best retinopathy even in the absence of a consanguineous history.
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KEYWORD
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Autosomal recessive, Bestrophinopathy, BEST1 gene, Bestrophin-1, Heterozygous, Mutation
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