Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept.

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500.

Presumed non-accidental injury with retinal haemorrhages--findings from a tertiary referral centre in the United Kingdom.

Aim: To describe the clinical and demographic features of patients with retinal haemorrhages from presumed non-accidental injury (NAI) at a tertiary referral centre in Leeds over a 2-year period.

Methods: All patients with retinal haemorrhages from presumed NAI between 1 January 2007 and 31 December 2008 were retrospectively identified from the hospital RetCam® (Clarity Medical System, Pleasanton, CA, USA) database. Case-notes, fundus photographs and radiological studies were retrieved for all patients and examined.

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Purpose: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder that disrupts the development of the retinal vasculature and can result in blindness. FEVR is genetically heterogeneous and mutations in four genes, NDP, FZD4, LRP5, and TSPAN12, encoding components of a novel ligand-receptor complex that activates the Norrin-β-catenin signaling pathway, account for approximately 50% of cases. We recently identified mutations in TSPAN12 as a cause of dominant FEVR.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of the affected signaling pathway.

Unilateral retinal hemorrhages with subarachnoid hemorrhage in a 5-week-old infant: is this nonaccidental injury?

Purpose: Retinal hemorrhages are an important sign in the setting of nonaccidental injury (NAI) (abusive head injury) in young infants and form a very important part of the evidence in support of the diagnosis. The diagnosis of NAI has serious social and legal implications. Other causes of retinal hemorrhages in an infant, such as birth trauma, accidental head injury, subarachnoid hemorrhage, other less common disorders of clotting, leukemia, and infections such as endocarditis, need to be considered and ruled out in making a diagnosis of NAI.

Bilateral retinal phototoxic injury during cataract surgery in a child.

The intense illumination of the operating microscope has been implicated in photic retinopathy in patients and in animal studies. We report a case of bilateral macular phototoxicity occurring in an eleven-year-old child who underwent bilateral cataract surgery for radiation cataracts. We are unaware of other reports of retinal toxicity occurring during pediatric cataract surgery.

Outcome of zone 1 retinopathy of prematurity.

Purpose: To describe the outcome in a series of patients with pre-threshold and threshold zone 1 retinopathy of prematurity.

Methods: We performed a retrospective analysis of 12 babies, 24 eyes, with zone 1 retinopathy of prematurity, treated between 1992 and 2002 with diode laser treatment.

Results: Ten out of the 12 babies had an unfavourable outcome.