This case represents the first report of acute bilateral central serous retinopathy associated with deferoxamine therapy. Cessation of deferoxamine resulted in rapid visual recovery.
We were very interested to read of a second mutation in the seed region of miR-184 resulting in EDICT syndrome. 1 We were unsure after reading the paper, however, of how the corneal findings should be classified and of the statement that the family "does not demonstrate a keratoconus phenotype." Keratoconus, the commonest disorder of corneal thinning and steepening, has been linked with VSX1 and SOD1 in single studies and up to 14 different genetic loci.2 It has a variable phenotype, and while few would dispute the diagnosis in classic cases with central corneal thinning, identifying variants such as forme fruste disease (where a cone may not be present) may be more challenging. A less common disorder of corneal thinning is keratoglobus, in which the thinning is global and often most pronounced in the periphery. Iris hypoplasia with keratoglobus has been described. 3 Similarly, the occurrence of keratoglobus with a corneal endothelial disease, posterior polymorphous corneal dystrophy, has also been recognized.
Paracentral acute middle maculopathy (PAMM) is an optical coherence tomography (OCT) finding seen in patients with retinal capillary ischemia. In this case report, we present a case of PAMM after a transient central retinal artery occlusion and the multifocal electroretinogram (mfERG) and other multimodal imaging findings. Clinical examination, OCT angiography, OCT
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, fluorescein angiography, and visual fields were performed at the baseline and follow-up examinations. As a result, we identified in this PAMM case evidence of hypoperfusion in both the choriocapillaris as well as the deep capillary plexus. To the best of our knowledge, the involvement of choriocapillaris has not been reported previously in the literature. Moreover, we concluded that mfERG constitutes a useful investigation in PAMM and this is the first mfERG findings to be presented for a PAMM case specifically.
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