Título / Title

ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

Introdução / Purpose

To report a case adult-onset foveomacular vitelliform dystrophy (AOFVD).

Material e Método / Methods

Case report.

Resultados / Results

A 60-years-old white male, complained of visual disturbance on both eyes (OU). Medical and familiar history were negative. The best corrected visual acuity (BCVA) was 20/30 on OU. Biomicroscopy of the anterior segment was unremarkable. Fundus examination revealed a hyperpigmented foveal lesion with a hypopigmented halo (Figure 1). OCT showed a high hiperreflective deposit in the foveal area at the level of the RPE, besides collapsed vitelliform space (Figure 2). The patient was diagnosed with AOFVD and the management was follow up on semiannual basis. Three years before, the BCVA of 20/20 with the RE and 20/25 with the LE and fundus examination was normal on OU.

Discussão e Conclusões / Conclusion

The AOFVD is generally sporadic inheritance disorder which in the minority of the cases presents as autosomal dominant caused by mutations in the gene RDS PRPH2 or BEST1. Usually is bilateral and symmetric starting in the fourth to sixth decade of life. Initial yellowish lesion appearance is due to lipofuscin deposit in the RPE, often elevated, round or oval, one-third disc diameter in size with a central pigmented spot. Frequently is misdiagnosed as AMD, but the lack of soft-drusen and the OCT findings excludes the latter. ERG and EOG tend to be normal. The patients are either asymptomatic or have mild blurring and the prognosis is good. The OCT reveals moderate reflectivity material under or in the RPE in the presence of the vitelliform lesions, and in the absence of it, high reflectivity material similar to drusen, as presented in this case report.

Palavras Chave

Retina; Vitelliform Macular Distrophy; Macular Degeneration.