Título / Title

STRAATSMA SYNDROME WITH NYSTAGMUS, A UNCOMUN DISEASE

Introdução / Purpose

Purpose: Report a rare disease defined as Straatsma syndrome with nystagmus, and documents additional findings related to spectral-domain optical coherence tomography and angiography, and ocular fundus images.

Material e Método / Methods

We describe a case of a 54 years old women with Straatsma Syndrome associated nystagmus, a rare pathology.

Resultados / Results

54-years-old women presented with extensive unilateral myelination of the retinal nerve fiber layer that encompassed the posterior pole along vascular arcades. On exam: best-corrected visual acuity (BCVA) of 20/20 in her right eye (OR) (-0,50 = -1.00 x 120º) and CF (Counting Finger) at 1 meter in her left eye (OS) (-18.0 sph). At fundoscopy: OR was normal and OS showed diffuse myelination of the retinal nerve fiber layer encompassing the posterior pole. The patient had concomitant ocular findings of strabismus, amblyopia, and congenital nystagmus.

Discussão e Conclusões / Conclusion

This case describes a classic presentation of Straatsma syndrome and investigates the clinical features of this disease. The patient's constellation of findings is most easily explained as unilateral myelination catalyzing the associated findings of myopia and nystagmus. In this syndrome, we have three causes possibilities for amblyopia: 1- Strabismus component. 2- Refractive defect. 3- Structural defect. Although Ophthalmologists are familiar with the presence of myelin fibers, it is important to also know about ocular associations and differential diagnoses of this condition. Delay in diagnosis, the presence of intense amblyopia, and superimposed strabismus increase the likelihood that amblyopia will be partially or resistant to therapy.

Palavras Chave

amblyopia, myopia, myelinated retinal nerve fibers, nystagmus, straatsma

Area

CLINICAL RETINA