Título / Title

FOCAL CHOROIDAL EXCAVATION IN BEST VITELLIFORM MACULAR DYSTROPHY

Introdução / Purpose

Pathogenic variants in BEST1 are associated with different phenotypes such as Best vitelliform macular dystrophy, adult-onset foveomacular vitelliform dystrophy, autosomal recessive bestrophinopathy, retinitis pigmentosa, and autosomal dominant vitreoretinochoroidopathy (ADVIRC). More than 270 variants in BEST1 have been reported. Here we describe a new pedigree with clinical and molecular diagnosis of Best vitelliform macular dystrophy at Instituto Suel Abujamra.

Material e Método / Methods

This is a retrospective, observational, case series of patients diagnosed with Best vitelliform macular dystrophy that underwent best-corrected visual acuity (BCVA), fundus exam, and ophthalmologic multimodal imaging including fundus photography, autofluorescence, and optical coherence tomography (OCT).

Resultados / Results

Three family members with a known missense pathogenic variant c.701T>G (p.Leu234Arg) in BEST1 gene are reported here. The proband (III2) is a 53-year-old male patient complaining of ocular symptoms since 34-years-old. BCVA was 20/100 in the right eye (OD) and 20/100 in the left eye (OS). The son of the proband is a 29-year-old male patient complaining of visual impairment since childhood. His BCVA was 20/60 OD and 20/50 OS. The brother of the proband is a 49-year-old male patient complaining of visual symptoms since the third decade of life. BCVA was 20/25 OD and 20/30 OS.

Discussão e Conclusões / Conclusion

The affected members of this family exhibited the typical retinal features of Best vitelliform macular dystrophy in different stages. The youngest presented the pseudohypopyon stage due to layering of the lipofuscin material. The proband and his brother presented a fibrotic scar in the right eye and left eye respectively. Interestingly the brother of the proband presented pigmented changes in the midperiphery and focal choroid excavation on OCT, atypical features for Best vitelliform macular dystrophy, already described in the literature. These findings reinforce the importance of multimodal imaging in inherited retinal diseases.

Palavras Chave

Best macular dystrophy, optical coherence tomography

Area

CLINICAL RETINA