Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.

Purpose: Our aim was to analyze retinal structure in young patients with Best disease with reference to future gene therapy.

Methods: This was a retrospective observational spectral domain optical coherence tomography study of four patients aged 10 years or less with Best disease.

Results: Findings ranged from subtle thickening at the level of the retinal pigment epithelium-photoreceptor interdigitation line, to subretinal fluid and precipitate-like changes at the level of the photoreceptor outer segments, and further to choroidal neovascularization.

Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.

Purpose: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with prolonged dark adaptation at 22 years of age.

Methods: Clinical examination, kinetic Goldmann perimetry, dark adaptometry, fundus autofluorescence photography, spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG) were performed.

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Purpose: To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina.

Design: Retrospective clinical and molecular genetic analysis and immunohistochemical observational study.

Methods: setting: National referral center.