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To describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation.A retrospective review of the clinical, psychophysical, and electrophysiological phenotypes of six subjects with ADVIRC. Five family members were sequenced for mutations in the BEST1 gene.A heterozygous change, p.V86M (c.256GA), was identified in the BEST1 gene in the three affected subjects tested, and was shown to segregate with the disease phenotype. The distance visual acuity ranged from ≥ 20/25 to absent perception of light. Clinical features observed included angle closure glaucoma (n = 2), microcornea with shallow anterior chamber (n = 1), iris dysgenesis (n = 2), cataracts (n = 4), classical peripheral concentric band of retinal hyperpigmentation (n = 5), and optic nerve dysplasia (n = 1). Full-field electroretinogram response amplitudes ranged from low normal (two cases; 27 and 32 years) to non-recordable (two cases; 42 and 63 years). Goldmann fields were normal in two (27 and 28 years) but were abnormal in two older subjects. Optical coherence tomography showed macular thinning in the proband, whereas his affected daughter had normal macular thickness. Electro-oculography showed borderline Arden's ratio (1.50) in the lone case tested (27 years).ADVIRC is a slowly progressive vitreoretinal degeneration that demonstrates marked intra-familial phenotypic variability. Optic nerve dysplasia and iris dysgenesis are novel observations that extend the ocular phenotype of ADVIRC.

To show the variable expressivity of ocular associations of foveal hypoplasia in three affected members of a family. Three symptomatic members of a family underwent a detailed ophthalmic evaluation including best-corrected distance and near-vision measurement, colour vision assessment, fundus evaluation and fluorescein angiography, horizontal corneal diameter measurement, total axial length measurement, and full-field electroretinogram. Optical coherence tomography was performed in two of the three cases. Pedigree charting was also carried out. Foveal hypoplasia was shown in all three cases. Pedigree charting showed an autosomal recessive (AR) inheritance pattern of foveal hypoplasia in our series. Microphthalmos and chorioretinal coloboma were found to be variably associated with foveal hypoplasia in this series. This interesting case series shows that variable expressivity could be found in AR inheritance patterns of foveal hypoplasia.