Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously rep...

We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 with cone-rod dystrophy, 5 with rod-cone dystrophy, 3 with vitelliform macular dystrophy (Best's disea...

PURPOSE To describe the different morphological features in adult onset foveomacular vittelliform dystrophy (AOFVD) using high-resolution spectral domain optical coherence tomography (OCT). DESIGN Prospective observational case series. METHODS Complete ophthalmologic examination, including spectral domain OCT, was performed in 49 consecutive AOFVD patients (60 eyes). RESULTS In 28/60 eyes...

Diabetic retinopathy (DR) and adult vitelliform macular dystrophy (AVMD) may cause significant vision impairment or blindness. Prompt diagnosis is essential for patient health. Photographic ophthalmoscopy checks retinal health quickly, painlessly, easily. It a frequent eye test. Ophthalmoscopy images of these two illnesses are challenging to analyse since early indications typically absent. We ...

Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the ...

This pilot study aims to investigate choroidal vascular status in eyes with adult-onset foveomacular vitelliform dystrophy (AOFVD), early age-related macular degeneration (AMD), and age-matched controls. In this retrospective study, thickness (CT) was measured manually using spectral domain optical coherence tomography images of the fovea, 500 1500 µm from nasal temporal regions fovea. The hori...

CASE REPORT We report the case of a 10-year-old boy with a progressive bilateral vitelliform macular dystrophy, and his father with terminal stage disease in both eyes; we studied the development and progression of this condition with optical coherence tomography. DISCUSSION Optical coherence tomography is a useful noninvasive tool that complements other diagnostic modalities and improves the...