Retinoschisis, X-linked

A genetic disorder affecting the retina

X-linked Retinoschisis
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Reduced visual acuity, strabismus, nystagmus
Complications	Retinal detachment, vitreous hemorrhage
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the RS1 gene
Risks	Family history
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Low vision aids, regular monitoring
Medication	N/A
Prognosis	Variable, often stable
Frequency	Rare
Deaths	N/A

X-linked Retinoschisis (XLRS) is a genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. It is characterized by the splitting of the retinal layers, leading to impaired vision. This condition is inherited in an X-linked recessive pattern, primarily affecting males.

Pathophysiology

X-linked Retinoschisis is caused by mutations in the RS1 gene, which encodes the retinoschisin protein. This protein is crucial for the structural integrity and function of the retina. Mutations in RS1 lead to the disruption of retinal cell adhesion, resulting in the characteristic splitting or "schisis" of the retinal layers.

Clinical Presentation

Patients with XLRS typically present in childhood with symptoms such as:

• Reduced visual acuity
• Strabismus (misalignment of the eyes)
• Nystagmus (involuntary eye movements)

The condition can lead to complications such as retinal detachment and vitreous hemorrhage, which can further impair vision.

Diagnosis

Diagnosis of X-linked Retinoschisis is based on clinical examination and confirmed by genetic testing. Key diagnostic tools include:

• Ophthalmoscopy: Reveals the characteristic "spoke-wheel" pattern in the macula.
• Optical coherence tomography (OCT): Provides detailed images of the retinal layers, showing the schisis.
• Genetic testing: Identifies mutations in the RS1 gene.

Management

There is currently no cure for XLRS, but management focuses on monitoring and supporting vision. Treatment options include:

• Low vision aids to enhance remaining vision.
• Regular ophthalmic examinations to monitor for complications such as retinal detachment.
• Genetic counseling for affected families.

Prognosis

The prognosis for individuals with X-linked Retinoschisis varies. While some patients maintain stable vision, others may experience progressive vision loss. Early detection and management of complications are crucial for preserving vision.

Also see

• Retinal detachment
• Nystagmus
• Genetic disorders
• 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