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S. Low, P. J. Foster, G. C. Black, A. Davidson, F. Manson, G. Holder, P. T. Khaw, S. S. Bhattacharya, A. T. Moore, A. R. Webster; A Family With Vitelliform Macular Lesions and Angle-Closure Glaucoma. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4108.
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To describe a non-consanguineous white British family with vitelliform macular lesions and angle-closure in three affected siblings.
Slit-lamp examinations (including gonioscopy), anterior and posterior segment optical coherence tomography, fundal photographs, axial biometry (including anterior chamber depth [ACD] and axial length [AL]), refraction, electro-oculography (EOG) and visual field examinations were performed with sequence analysis of the BEST1 gene.
The proband was 40-years-old (+3.50 DS OU; ACD 2.20/2.06mm OD/OS; AL 20.70/21.63mm OD/OS) with bilateral macular vitelliform lesions, advanced angle-closure glaucomatous optic neuropathy and no EOG light rise. Her 45-year-old brother (+0.75 DS OU; ACD 2.56/2.64mm OD/OS; AL 22.54/22.60mm OD/OS) had similar fundal appearances but a normal EOG light rise. Their 47-year-old sister (+4.00DS OU; ACD 2.52/2.43 OD/OS; AL 20.46/20.84mm OD/OS) had a normal appearance of the left fundus, vitelliform lesion and subretinal thickening of the right fundus, with no EOG light rise bilaterally. All three siblings had closed angles on gonioscopy requiring prophylactic laser iridotomies. Both parents (deceased) had no known ocular disorders. Sequencing of the entire coding region and intron-exon boundaries of BEST1 showed a heterozygous p.Phe305Ser (c.914T>C) mutation previously been described as segregating in a dominant fashion in a family with Best disease (Marquardt A et al 1998).
This family demonstrates the clinical heterogeneity of Best-like maculopathies. The unusual phenotypic characteristics include pupil-block angle-closure with glaucomatous optic neuropathy, a normal EOG light rise and an asymmetric fundal appearance in the proband, her brother and sister respectively. The BEST1 mutation suggests a likely autosomal dominant inheritance in the family, presumably with reduced penetrance.
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