Título

X-LINKED JUVENILE RETINOSCHISIS: CASE REPORT

Introdução / Purpose

Juvenile X linked retinoschisis (XLRS) is a vitreoretinal degeneration, more common in men and it is characterized by bilateral maculopathy, with associated peripheral retinoschisis in 50% of patients1. The basic defect is in the Müller cells, causing splitting of the retinal nerve fibre layer from the rest of the sensory retina. 1,5

Material e Método / Methods

LSA, a 24 year old man, student, caucasian, reports a low vision worse in the OS since his childhood with progressive loss. He denies use of medication and other symptoms.  
Visual acuity with correction is 20/30 in the OD and 20/140 in the OS. IOP 12/11mmHg.
Biomicroscopy In both eyes NWM, with photo-reagents pupil.
In eye fundus the optical disk was normal, vessels with path and caliber preserved, observes an alteration in “Bicycle Wheel”, radiating from the foveola in macular spot, retinal applied.

Resultados / Results

According to what has been discussed in the case above, the prognostic is not good. Although his eyesight in the eye is 20/40 now, in the 5˚ and 6˚ decades his visual acuity can get worse.

Discussão e Conclusões / Discussion

The XLRS is a vitreoretinal degeneration more common in male patients, initial symptoms between 5-10 years, primary cause by a defect in the müller cells causing a splitting of the retinal nerve fibre layer from the rest of sensory retina. It is a bilateral cystic alteration similar to a “bicycle wheel”. A maculopathy is present in almost all the cases and can be the only finding of the disease half of the cases.3
The inheritance in XL by the gene RS1 on Xp22.1-22.21
The vitreous places an effect in the bolso nature of the lesion. It seems like the internal retinal layers take an anatomic position after a posterior vitreous detachment as it separates the internal vitreous face and the internal limiting.3 The foveal schisis has the “bicycle wheel” radial striae radiating from the foveola associated with cystoid macular changes. Peripheral schisis can also be found. 1, 3
The diagnose can be reached by the clinical exam and has the support of OCT which

Palavras Chave

X-linked juvenile retinoschisis; maculopathy; vitreoretinal degeneration ; “bicycle wheel”

Area

CLINICAL RETINA