A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

BMC Ophthalmology

Table 1 Clinical profile of the patients

Patient	Age/sex	Axial length/ AC depth (mm)		BCVA, spherical equivalents		FAF	OCT	ERG	EOG
Patient	Age/sex	OD	OS	OD	OS	FAF	OCT	ERG	EOG
A	17/F	21.80/2.65	21.64/ 2.71	6/9 (-1.25)	6/9 (-1.50)	Hyper autoflourescent deposits	Intra-retinal spaces (schisis), sub-retinal deposits, subretinal fluid	Normal	Absent light peak
B	15/M	21.61/ 3.48	21.54/ 3.53	6/6 (+ 5.00)	5/60 (+ 5.00)	Hyper autoflourescenct deposits	Sub-retinal fluid and deposit	Normal	Absent light peak

AC Anterior Chamber, BCVA Best-corrected visual acuity, FAF Fundus autofluorescence, OCT Optical Coherence Tomography, ERG electroretinogram, EOG Electrooculogram

ISSN: 1471-2415