The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

A rare ophthalmologic disorder: Gyrate atrophy with sparse hair

Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...

Gyrate Atrophy of the Choroid and Retina: A Case Report

Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision,...

Gyrate atrophy of the choroid: two cases.

INTRODUCTION Gyrate atrophy of the choroid (GA) is a rare, inherited choroidal dystrophy that results in progressive deterioration in peripheral and night vision. This is the first documentation of GA in Singapore. CLINICAL PICTURE This report illustrates 2 cases of a sibling pair from a consanguineous union, presenting with the classical clinical features and biochemical abnormality of this ...

Gyrate atrophy and choroidal neovascularization.

Next Generation Sequencing and its Application in the Study of Microbiome in Plant Diseases Suppressive Soils

Progress in next-generation sequencing has played a significant role in ecological studies of microbial populations. These advances have led to a rapid evaluation in metagenomics studies (analysis of DNA of microbial communities without the need to culture). Many statistical and computational tools and metagenomics databases have led to the discovery of huge amounts of data. In this research, i...