The hereditary choroidal dystrophies are divided into (1) geographic choroidal dystrophies (central areolar, peripapillary, generalised), (2) gyrate atrophy, and (3) choroideremia. Each of these disorders is discussed with regard to mode of inheritance, age of onset, symptoms, fundus appearance, and visual function testing. A typical case history of each disorder is presented together with fluo...

Medical records of a 46‐year‐old woman with bilateral myopia, gyrate atrophy, and history of night blindness were reviewed. The patient underwent macular hole surgery in the left eye 3 years back. The surgery consisted of pars plana vitrectomy (PPV), induction of posterior vitreous detachment (PVD), internal limiting membrane (ILM) peeling, and fluid‐air exchange. She had serum ornithine level ...

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...

The function of the neural retina and the pigment epithelium in 10 patients with gyrate atrophy was examined by the conventional alternating current electroretinogram and by direct current electroretinography to study the c-wave. The a- and b-wave responses were subnormal in all patients and the ERG was undetectable in patients with an advanced stage of the disease. The c-wave was recordable by...

Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment and the absence of OAT mRNA on Northern blot analysis. Cloning and sequencing analysis of the trunc...