Gyrate atrophy of the choroid and retina

A rare genetic disorder affecting the eyes

Gyrate atrophy of the choroid and retina
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive vision loss, night blindness
Complications	N/A
Onset	Childhood
Duration	N/A
Types	N/A
Causes	Mutations in the OAT gene
Risks	N/A
Diagnosis	Genetic testing, Ophthalmoscopy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Vitamin B6 supplementation, dietary modification
Medication	N/A
Prognosis	Progressive, can lead to blindness
Frequency	Rare
Deaths	N/A

Gyrate atrophy of the choroid and retina is a rare autosomal recessive disorder characterized by progressive degeneration of the choroid and retina in the eye. This condition is caused by mutations in the ornithine aminotransferase (OAT) gene, leading to elevated levels of ornithine in the blood and tissues.

Presentation

The condition typically presents in childhood with symptoms such as night blindness and progressive loss of peripheral vision. As the disease progresses, patients may experience a narrowing of the visual field and eventual loss of central vision, potentially leading to blindness.

Pathophysiology

Gyrate atrophy is caused by a deficiency in the enzyme ornithine aminotransferase, which is crucial for the metabolism of ornithine, an amino acid. The deficiency leads to the accumulation of ornithine, which is toxic to the retinal pigment epithelium and choroid, causing the characteristic atrophy.

Diagnosis

Diagnosis is typically made through a combination of clinical examination, family history, and genetic testing. Ophthalmoscopy reveals sharply demarcated areas of chorioretinal atrophy. Elevated plasma ornithine levels can be detected through blood tests.

Management

Management of gyrate atrophy involves reducing plasma ornithine levels. This can be achieved through dietary restriction of arginine, a precursor of ornithine, and supplementation with Vitamin B6, which may enhance residual enzyme activity in some patients. Regular monitoring by an ophthalmologist is essential to manage the progression of the disease.

Prognosis

The prognosis for individuals with gyrate atrophy varies. While the condition is progressive and can lead to significant vision loss, early diagnosis and management can slow the progression of symptoms.

Also see

• Retinitis pigmentosa
• Choroideremia
• Leber congenital amaurosis
• Ophthalmology

External

• Age-Related Macular Degeneration

• Amblyopia (Lazy Eye)

• Anophthalmia and Microphthalmia

• Astigmatism

B

• Behçet's Disease* Bietti's Crystalline Dystrophy

• Blepharitis* Blepharospasm

C

• Cataracts

• Coloboma

• Color Blindness

• Corneal Conditions

D

• Diabetic Retinopathy

• Dry Eye

F

• Floaters

G

• Glaucoma

I

• Idiopathic Intracranial Hypertension

L

• Low Vision

M

• Macular Edema

• Macular Hole

• Macular Pucker

P

• Pink Eye

R

• Rare Diseases

• Refractive Errors

• Retinal Detachment

• Retinitis Pigmentosa

• Retinoblastoma

• Retinopathy of Prematurity

S

• Stargardt Disease

U

• Usher Syndrome

• Uveitis

V

• Vitreous Detachment