Título / Title

BEST VITELLIFORM MACULAR DYSTROPHY: A CASE REPORT.

Introdução / Purpose

A 31 year old white male came to his first ophthalmologic appointment complaining of a gradual and chronical low visual acuity in both eyes (OU) since his childhood. The patient denied previous comorbidities, but reported blindness in his father without known cause.

Material e Método / Methods

This is a case Report of one patient with Best Vitelliform Macular Dystrophy.

Resultados / Results

The visual acuity without corrention was 20/20 in right eye (OD) and 20/25 in left eye (OS) without improvement upon refraction. The anterior segment did not have any changes and the tonometry was 14 and 13 mmHg in OD and OS respectively. Dilated fundos examination found a cup-to-disc radio of 0.2 in OU and a oval-shaped sub-retinal lesion on the macula that had a "pseudo-hypopyon" and a viteliform appearance with two and four times disc diameter in OD and in OS respectively. The fluorescein Angiography (AGF) demonstrated vessels with increased tortuosites, early hyperfluorescence in macula that remained until the later phases and also presented yellow pigmental deposits and pseudohypopyon in OU, but in greater quantity in OS. The Optical Coerente Tomography showed neurosensorial disruption, on macular area of OU, with presence of hyperreflective material at he level of retinal pigmentar epithelhum.

Discussão e Conclusões / Conclusion

Best disease is a rare autosomal dominante macular dystrophy, frequently bilateral, the diagnosis is based on clinical appearance, but family history and adjuvant exams helps to confirm.According to clinical classification, the patient related is in the third stage with pseudohypopyon and without significal visual acuity loss, but different from the usual, the AGF demonstred to be on an atrophic stage disease were we expected a lower visual acuity.There is no clinical or surgical consense for Best disease management.Raras diseases cases reports with different visual outcomes despite of the result of adjuvant exames, helps to to improve the knowledge and to development new treatments.

Palavras Chave

BEST DISEASE, VITELLIFORM MACULAR DYSTROPHY