Acute bacterial endophthalmitis after intravitreal bevacizumab injection: Case report and literature review

AbstractA case report of a 52year old male who received intravitreal bevacizumab and developed culture positive endophthalmitis. Vitreous culture indicated that endophthalmitis was caused by Staphylococcus epidermidis. The patient was initially managed with intravitreal injection of ceftazidime and vancomycin, followed by pars plana lensectomy, pars plana vitrectomy with intravitreal injection of 1mg/0.1ml vancomycin, 2.25mg/0.1ml ceftazidime, 5mg/0.1ml fortified amphotericin-B and 4mg/0.1ml dexamethasone. Postoperatively the patient improved significantly. However, vision improved from hand motion to counting fingers secondary to severe retinal ischemia. Acute endophthalmitis can develop after intravitreal bevacizumab injections and cause profound visual loss. A review of literature was also performed for similar cases

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

Background Dominant mutations in peripherin (PRPH2) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. Recessive PRPH2 mutations cause retinal dystrophy associated with prominent maculopathy in adulthood; however, the presenting childhood phenotype has not been defined. We characterise this phenotype. Methods Retrospective case series of families harbouring bi-allelic PRPH2 mutations (2010-2014). Results Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46(star)))all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia). The three children had high hyperopia, a normal or near normal fundus, and non-recordable electroretinographies (ERGs). The two adults had slight myopia, macular and peripheral retinal changes, and non-recordable ERGs. All five available carrier parents had macular+/-peripheral retinal findings, although they considered themselves asymptomatic except for one mother who had developed visual loss in one eye at 48 years old and had an associated subfoveal lesion. Conclusions Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy. Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect