Clinical and instrumental characteristics of various forms of vitelliform dystrophies occurring in adult patient

Background. Vitelliform dystrophies, first detected in adulthood, may create complications in diagnosis, especially with partial or almost complete destruction of vitelliform material, disguising as various types of macular pathology, such as central serous chorioretinopathy, age-related macular degeneration.

The aim: to study the clinical and instrumental characteristics of the most common forms of vitelliform dystrophies occurring in adulthood.

Materials and methods. Sixty eyes of adult patients with vitelliform dystrophies were included in the study. All patients underwent ophthalmologic examination including family history, best corrected visual acuity, biomicroscopy, and multimodal imaging including fundus photo, SD-OCT, OCT-A, BAF, FA, ICGA. After examination, the patients were divided according to various types of vitelliform dystrophies. The instrumental and diagnostic characteristics of the identified forms of vitelliform dystrophies were studied, taking into account the stage of the process, based on the analysis of clinical data, as well as the results of the most accessible non-invasive research methods, such as SD-OCT, OCT-A, BAF.

Results. The average age of patients was 52.40 ± 20.62 years, there were 13 (43.3 %) women and 17 (56.7 %) men. In 96.67 % of cases, the disease was bilateral. Genetically determined forms of vitelliform dystrophies were more common in sporadic forms. In the studied cohort, 43.3  % were patients with Best vitelliform macular dystrophy, 13.3 % – with autosomal recessive bestrophinopathy, 43.3 % – with pattern dystrophies. In all patients, according to structural OCT data, neuroepithelium detachment, residual vitelliform material in the form of massive deposits, deposits in the form of “stalactites”, “fringes” were determined. In all cases of vitelliform dystrophies, atrophic changes were detected, which intensified with an increase in the duration of the disease. Hyperautofluorescence of the residual vitelliform material in the form of “beads” was often accompanied in the later stages of the disease.

Conclusion. Cases of vitelliform dystrophies identified in adults with partially resorbed vitelliform material require a thorough analysis of structural optical coherence tomography and fundus autofluorescence. 

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