A rare ophthalmologic disorder: Gyrate atrophy with sparse hair

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 and choroidal neovascularization.

Colour vision in gyrate atrophy

A follow-up study of colour vision in two patients with gyrate atrophy was performed. Gyrate atrophy was diagnosed in the first patient at the age of 17 years. Her colour vision was first tested at the age of 25 years; at the follow-up examination 7 years later, she correctly interpreted the Standard Pseudoisochromatic Plates part 2, however, with one mistake due to lens opacity. In the Farnswo...

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

The inheritance of the autosomal recessive type of gyrate atrophy of the choroid and retina seems well documented (Botermans, I 972), but the aetiology of the disease is still unknown. Animal experiments and some disturbances of lipid, carbohydrate, and protein metabolism connected with chorio-retinal degenerations in man support the possibility of an enzymatic disorder as an aetiological facto...

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 of the choroid and retina with hyperornithinemia.

A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings. He presented with progressive visual loss, and had cataracts and large areas of peripheral...