Acetazolamide for Cystoid Macular Oedema in Bietti Crystalline Retinal Dystrophy

Bietti crystalline retinal dystrophy is a rare, inherited disorder whose hallmark is the presence of retinal crystal deposits associated with later chorioretinal degeneration. This condition may rarely be complicated by the development of cystoid macular oedema leading to rapid visual decline. Currently, treatment options for this complication of Bietti dystrophy are limited and the visual prognosis is poor. Here, we present a case of cystoid macular oedema associated with Bietti dystrophy that was successfully diagnosed using multimodal imaging techniques including optical coherence tomography and fluorescein angiography. These modalities confirmed the diagnosis of macular oedema and excluded other possible causes of oedema such as choroidal neovascularisation. In this patient, cystoid macular oedema was resolved with oral acetazolamide therapy, a treatment that has not been previously reported in this context. Acetazolamide treatment resulted in oedema resolution and improvement in visual function, and can be considered a therapeutic option for other patients with Bietti dystrophy who develop cystoid macular oedema.

Alcohol epitheliectomy with mechanical debridement in a case of granular corneal dystrophy with r555w homozygous mutation of TGF B1 gene.

An eight-year-old girl, an offspring of a consanguineous marriage presented with multiple anterior stromal geographic corneal opacities in both eyes. She was diagnosed to have superficial variant of granular dystrophy based on the family history, clinical features and mutation of TGF B1 gene. She was treated by alcohol-assisted removal of epithelium followed by mechanical debridement of abnormal deposits. Postoperatively, the cornea in both eyes was clear with no trace of opacity and the patient had an unaided visual acuity of 20/20 partial.