Gyrate atrophy (GA) it is rare genetic condition that increases plasma ornithine levels due to mitochondrial enzyme deficiency to cause vision loss. 

Gyrate atrophy is a genetic disease that affects the eyes due to a lack of ornithine aminotransferase enzyme.  

Patients develop night blindness, visual field constriction, and central vision loss. 

Diagnosis based on clinical symptoms, hyperornithinemia in plasma, and mutations in the OAT gene. 

Gyrate atrophy is a rare condition and reported worldwide in countries such as the USA, Japan, Germany, India, China, and Brazil. 

The prevalence of the condition is 1 in 50,000 individuals. Symptoms such as myopia, night blindness, and visual field issues start in the first ten years. 

Females may have larger visual fields and preserved night vision than males. 

Pyridoxal enzyme metabolizes ornithine into pyrroline-5-carboxylic acid. 

OAT expressed at high levels in RPE. RPE sensitive to ornithine accumulation in OAT deficiency. 

Growth of GA in patients may be due to direct toxicity from hyperornithinemia, toxic residues from RPE cells. 

It causes CNS issues including mental retardation, epilepsy, and muscle problems due to secondary phosphocreatine deficiency from creatine synthesis inhibition. 

Gyrate atrophy is a rare genetic condition caused due to OAT gene mutations on chromosome 10q26. 

Dysfunctional ornithine metabolism results in excessive ornithine buildup in body fluids. 

Excessive excretion of lysine and cystine in urine leads to decreased plasma levels of lysine, glutamine, glutamic acid, ammonia, and creatine. 

There are more than 60 reported mutations in the OAT gene that lead to GA. 

GA patients experience vision loss at night with narrowed visual fields from degeneration. 

Arginine restriction and vitamin B6 supplements may slow down progression of retinitis pigmentosa. 

Central vision diminishes in the first or second decade due to macular changes and cataracts.  

Treatment includes managing macular conditions and performing cataract extraction. 

Early Onset shows night blindness in form of first symptom noticed. 

Gradual decrease in central vision leads to eventual blindness in late adulthood. 

• Fundus Examination 
• Ophthalmologic Examination 
• Slit-Lamp Examination 
• Systemic Examination 

• Progressive symptoms as: 
• Mid-Peripheral Lesions 
• Central Vision Decline 
• Cataract Formation 
• Late stages symptoms as: 
• Significant Visual Impairment 
• Advanced Chorioretinal Atrophy 

Management of gyrate atrophy involves dietary changes to reduce ornithine. 

Reducing arginine in the diet lowers ornithine levels and slows chorioretinal degeneration progression in humans. 

Arginine restriction decreases ornithine levels to slow chorio-retinal degeneration in humans.  

Vitamin B6 supplements may help lower plasma ornithine levels due to it activates the pyridoxine-dependent OAT enzyme. 

Creatine may help slow chorioretinal degeneration and improve neurological and muscular symptoms. 

Treatment for cystoid macular edema and intraretinal cystic spaces with GA involves dietary arginine restriction, and NSAIDs. 

Ophthalmology

Improve lights/brightness in living room and working areas to prevent eye strain and enhance visual clarity. 

Use magnifying glasses and reading lenses to assist with reading and performing detailed tasks. 

Ensure all walking pathways/routes within the home are clear of obstacles. 

Proper education and awareness about gyrate atrophy should be provided and its related causes with management strategies. 

Appointments with an ophthalmologist and preventing recurrence of disorder is an ongoing life-long effort. 

Ophthalmology

Pyridoxine: 

It is important in metabolism of proteins, carbohydrates, and fats to help synthesis of GABA. 

Ophthalmology

Cataracts are common in patients thus surgical removal of cataracts is performed to improve visual acuity and quality of life. 

Ophthalmology

In the initial diagnosis phase, evaluation of medical history and ophthalmic examination to confirm diagnosis. 

Pharmacologic therapy is very effective in the treatment phase as it includes use of Vitamin B6 supplementation and surgical intervention. 

In supportive care and management phase, patients should receive required attention such as lifestyle modification and rehabilitation. 

The regular follow-up visits with the ophthalmologist are scheduled to check the improvement of patients along with treatment response.