ABSTRACT
CLINICAL CASE: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral neurosensory detachments (NSD) were observed in posterior pole, surrounded by deposits of lipofuscin. His 3-year-old son was also examined and circumscribed NSD was observed with the presence of pseudohypopyon in OD and a fibrosis scar in OS. The Arden ratio were decreased in electrooculography (EOG) in both patients, and genetic studies revealed a single mutation of the BEST1 gene. DISCUSSION: The existence of extensive bilateral NSD may be an unusual form of presentation of Best disease. Family history, EOG, and genetic study supported this diagnosis.
Subject(s)
Vitelliform Macular Dystrophy/diagnosis , Adult , Amblyopia/diagnosis , Bestrophins/genetics , Child, Preschool , Diagnostic Errors , Fundus Oculi , Genes, Dominant , Heterozygote , Humans , Lipofuscin/analysis , Male , Mutation, Missense , Retinal Detachment/etiology , Tomography, Optical Coherence , Vitelliform Macular Dystrophy/geneticsABSTRACT
CLINICAL CASE: A 42 year-old male was assessed for a subacute, bilateral and progressive visual loss. His medical history included chronic hepatitis C infection and Evans syndrome. On fundal examination, multiple areas of neurosensorial and retinal pigmented epithelium detachment were observed in the region of both macula. A few days later, his general health deteriorated and he was noted to have a high fever and adenopathy. Biopsy of an enlarged lateral cervical lymph node demonstrated the existence of a diffuse large B cell lymphoma. After several cycles of chemotherapy, he experienced a progressive and bilateral improvement of his vision, which was accompanied by a reattachment of the previously detached areas. DISCUSSION: A bilateral and serous macular detachment may be the initial manifestation of a diffuse large B cell lymphoma. The prognosis of these retinal lesions may be favourable if lymphoma remission is achieved.
