Adult-Onset Foveomacular Vitelliform Dystrophy

Retinography (Clarus 700, Zeiss): small yellowish deposit at central level (A1, A2).

Green autofluorescence (Clarus 700, Zeiss): the deposits are hyperautofluorescent, indicating that they are vitelliform material (lipofuscin) (B1, B2).

OCT (Cirrus 5000-HD, Zeiss): subfoveal hyperreflective material with preservation of the outer layers of the retina (EZ and ELM) (C1, C2).

Description

35-year-old male who comes in for a checkup.

VA OD 20/20 OS 20/20.

Fundus examination reveals a rounded yellowish lesion at the foveal level in both eyes, approximately 1/4 disc diameter in size. This deposit is hyperautofluorescent, suggesting the presence of vitelliform material. OCT shows hyperreflective material at the subfoveal level. EOG is normal, leading to a diagnosis of adult-onset foveomacular vitelliform dystrophy (AOFVD).

Comments

AOFVD is the most common type of pattern dystrophies, caused by alterations in the PRPH2/RDS gene. These consist of the accumulation of lipofuscin in the RPE in different patterns. In AOFVD, the deposit occurs at the subfoveal level, mimicking what happens in Best's disease. However, AOFVD develops at later ages, usually presents with better visual acuities and, unlike Best's disease, with a normal EOG.

Adult-Onset Foveomacular Vitelliform Dystrophy

Description

Comments

Indication