Título / Title

FAMILIAL EXUDATIVE VITREORETINOPATHY: TWO SPECTRUMS OF THE DISEASE

Introdução / Purpose

Familial Exudative Vitreoretinopathy (FEVR) is an important differential diagnosis in pediatric patients with retinal fold. However, attention should be paid to the atypical presentation of the disease.

Material e Método / Methods

Case report of two spectrums of FEVR: typical case in preschool and atypical presentation in adult patient.

Resultados / Results

The first case is a 4-year-old female patient with decreased visual acuity since 1.5 years old, born at term, birth weight of 3.6 kilograms. Visual acuity (VA): 20/400 in both eyes and exotropia in ectoscopy. Anterior segment was normal. Fundus examination revealed fibrotic fold emerging from the optic disc towards temporal retina in both eyes. Bone densitometry and audiometry examination were normal. Negative infectious screening for toxoplasmosis and syphilis, however positive for Rubella (IgG positive and IgM negative) and negative research for sickle cell anemia. The second case is a 46 years old male patient complaining of low visual in the right eye since childhood, without comorbidities. VA of count fingers in the right eye and 20/20 in the left eye. Fundus examination revealed temporal fibrotic fold with adjacent vascular distortion in right eye and normal fundoscopic examination in left eye. Fluorescein Angiography (FA) of the right eye demonstrated temporal capillary non-perfusion and macular microaneurysms, FA of the left eye was normal.

Discussão e Conclusões / Conclusion

FEVR is a hereditary vitreoretinal dystrophy, usually autosomal dominant, characterized by abnormal retina angiogenesis, typically in temporal periphery. Classically remembered as differential diagnosis of retinopathy of prematurity in newborns with retinal fold, however, with no prematurity history. In contrast, patients with unilateral atypical presentation may have a delayed diagnosis. In summary, this report reiterates the importance of considering FEVR hypothesis in every patient with retinal fold.

Palavras Chave

Familial Exudative Vitreoretinopathy, Spectrum, Differential Diagnosis