PEDBASE.org - The Pediatric Database - Detailed information of JUVENILE RETINOSCHISIS

JUVENILE RETINOSCHISIS

DEFINITION:

An inherited disorder of the eye characterized by degeneration of the vitreous and splitting of the retina within the nerve fibre layer into inner and outer layers.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- newborn -> infancy
risk factors:
- familial - x-linked recessive
  - chrom.#: Xp22.3-p22.1
  - gene: ?
- M only

PATHOGENESIS:

1. Background

there are 3 clinical variants of Retinoschisis
1. Typical Retinoschisis

2. Senile Retinoschisis

3. Junvenile Retinoschisis

1. Typical Retinoschisis

autosomal dominant inheritance (M=F)
occurs in hyperopic young males
bilateral and symmetric
affects the inferior temporal quadrant
ophthalmoscopically appears as
- a thin, translucent membrane extending up as a dome into the vitreous
- giant retinal cysts
static or slowly progressive
posterior vitreous detachment is common

2. Senile Retinoschisis

autosomal recessive inheritance (M=F)
occurs in older patients
bilateral and may develop as a coalescence of peripheral cysts -> separation of inner and outer retinal layers -> cyst extending up into the vitreous
may extend 360 degrees around the retinal periphery
symptomatic progression is uncommon (0.05%)

2. Genetic Defect

genetic defect -> abnormal gene product -> splitting of the retina into inner and outer layers

CLINICAL FEATURES:

1. Ocular Manifestations

extensive bilateral involvement of the retina often including the macula and fovea resulting in visual impairment
- may be asymmetric
ophthalmoscopically appears as
- areas of schisis represented by large holes in the anterior leaf
- elevation of the inner retinal layer most commonly in the inferotemporal quadrant
- numerous retinal folds that radiate in a spoke-wheel configuration
- macular degeneration and cyst formation
- vitreous veils and strands

2. Complications

involvement of the entire retina
retinal detachment
vitreous hemorrhage
visual impairment
- most common initial complaint
- visual acuity usually between 20/70 and 20/100 on initial presentation
- may progress to 20/200 range by age 20
- eventually mild to severe visual impairment
- complete scotoma of the visual field with a sharp edge in the area of the schisis

INVESTIGATIONS:

1. Electroretinogram (ERG)

depressed b wave
normal a wave except in severe cases

2. Electro-oculogram

normal

3. Dark Adaptation Test

normal

MANAGEMENT:

1. Ophthalmologic

1. Light Coagulation

heat may collapse cysts by causing resorption of fluid and/or prevent peripheral spread