Retinoschisis, juvenile

A genetic eye disorder affecting the retina

Juvenile Retinoschisis
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Vision loss, 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	Ophthalmoscopy, Optical coherence tomography
Differential diagnosis	N/A
Prevention	N/A
Treatment	Low vision aids, vitrectomy
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Juvenile Retinoschisis is a rare genetic eye 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 vision impairment. This condition is most commonly seen in males and is usually diagnosed in childhood.

Pathophysiology

Juvenile Retinoschisis is caused by mutations in the RS1 gene, which is located on the X chromosome. The RS1 gene encodes the protein retinoschisin, which is essential for the structural integrity and function of the retina. Mutations in this gene lead to the disruption of the normal architecture of the retina, resulting in the splitting of the retinal layers, known as schisis.

Clinical Presentation

Patients with juvenile retinoschisis typically present with:

• Reduced visual acuity, often noticed in early childhood.
• Strabismus, or misalignment of the eyes.
• Nystagmus, which is an involuntary movement of the eyes.

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

Diagnosis

Diagnosis of juvenile retinoschisis is based on clinical examination and imaging studies. Key diagnostic tools include:

• Ophthalmoscopy: This allows direct visualization of the retina, where characteristic "spoke-wheel" patterns may be observed.
• Optical coherence tomography (OCT): This imaging technique provides detailed cross-sectional images of the retina, revealing the schisis cavities.
• Genetic testing can confirm mutations in the RS1 gene.

Management

There is currently no cure for juvenile retinoschisis, but management focuses on maximizing visual function and monitoring for complications. Treatment options include:

• Low vision aids to help patients make the most of their remaining vision.
• Regular monitoring by an ophthalmologist to detect and manage complications such as retinal detachment.
• In some cases, surgical intervention such as vitrectomy may be necessary to address complications.

Prognosis

The prognosis for individuals with juvenile retinoschisis varies. While some patients maintain relatively stable vision, others may experience progressive vision loss. Early diagnosis and regular monitoring are crucial for managing the condition effectively.

Also see

• Retinal detachment
• X-linked recessive inheritance
• Optical coherence tomography
• Low vision

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