Título / Title

BARDET-BIEDL SYNDROME - A CASE REPORT

Introdução / Purpose

Bardet-Biedl syndrome is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, mental retardation and hypogonadism. One or more of the above findings that characterize the syndrome may be absent, but retinal dystrophy is found to be consistent. It manifests clinically in childhood with progressive visual loss, causing severe visual impairment in adolescence.

Material e Método / Methods

Case description, photos of polydactyly, retinography, visual field for the diagnosis of Bardet-Biedl Syndrome.

Resultados / Results

Male, 19 years old, student and resident of Fortaleza, CE.
Patient attends the Subnormal Vision department for loss of progressive vision in both eyes.
In association with ophthalmological findings, congenital morphological alterations (congenital foot and poly / brachydactyly) and delayed neuropsychomotor development.
Ophthalmologic Examination: Preserved eye motility. The best-corrected visual acuity (BCVA) was OD: 20/100 -2 OE: 20 / 160-2 (presents head movement by visual field limitation).
Biomicroscopy: Both eyes: Conjunctive calm, transparent cornea, anterior chamber formed, no inflammatory reaction.
Eye fundus: Papilla paleness, extensive pigmentary alteration in the retinal posterior pole and reduction of the vascular caliber in both eyes.
Tested Maxtv: not interested.
Automated perimetry: Significant field loss in both eyes
Closed diagnosis for Bardet's syndrome Biedl.
Increasing aid was prescribed and referred for orientation and mobility treatment.

Discussão e Conclusões / Conclusion

The clinical characteristic of retinal dystrophy, polydactyly, obesity, mental retardation, as in this case, makes the diagnosis very suggestive of Bardet Biedl Syndrome.
It is possible to test optical aids such as magnifying lenses and treatment of orientation and mobility with consequent improvement of autonomy, as presented in our case.

Palavras Chave

Bardet-Biedl syndrome, retinal dystrophy, Subnormal Vision.

Area

CLINICAL RETINA