Título / Title

JOUBERT SINDROME IN PACIENTE WITH DIFFUSE RETINAL ATROFHY IN BOTH EYES

Introdução / Purpose

The objective of this study is to show the importance to correctly identify Joubert syndrome to follow the patient and refer to appropriate specialists allowing the best treatment of the dysfunctions caused by it.

Material e Método / Methods

Case description of a patient with Joubert's syndrome without diagnosis, with complaint of low visual acuity in both eyes.

Resultados / Results

Report of a 29 years old male paciente with a complaint of low visual acuity in the right eye 1 week ago and in the left eye 2 days ago. He reports hemodialysis for 8 years due to chronic kidney failure with nephropathy to be clarified. In childhood he underwent surgery for correction of polydactyly.
During the examination, some phenotypic alterations of the patient were observed: broad forehead, arched eyebrowns, hypertelorism, low-set ears and triangle-shaped mouth. He presented best corrected visual acuity of hand motions on right eye and 20/40 on left eye.
Biomicroscopy with no alterations. OD funduscopy showed optic disc edemaciate and with poorly delimited contours, peripapillary hemorrhage and macular star. Systemic blood pressure was 230x110 mmHg.
He was referred to the emergency to stabilize hypertension. After 1 week, he presented blood pressure 130x90mmHg. Visual acuity OD was 20/400 and OE 20/30. He performed angiofluoresceinography that showed severe diffuse arteriolar attenuation and EPR atrophy in the middle periphery in both eyes in a symmetrical and concentric manner.
Joubert's syndrome was diagnosed and the case was followed due to diffuse retinal atrophy in both eyes.

Discussão e Conclusões / Conclusion

Joubert syndrome is a rare, autosomal recessively inherited genetic disorder characterized morphologically by developmental malformations of the cerebellum and brainstem. The condition is sometimes associated with other eye abnormalities such as retinal dystrophy and coloboma, kidney disease, liver disease, endocrine problems and skeletal abnormalities.

Palavras Chave

Joubert Syndrome; Retina ; Genetic