Variable phenotypes in patients diagnosed with idiopathic multifocal choroiditis

Abstract

No specific phenotype was seen to emerge from this cohort of patients diagnosed with idiopathic MFC, although most were significantly different from the retinal white dot syndromes currently described. The visual prognosis was relatively good and most cases responded to oral steroids.

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

“…ADNIV does demonstrate phenotypical heterogeneity, however it is reasonable to hypothesise that a mutation in the regulatory domain may have a less severe effect on protein function than that in the catalytic domain. The prevalence of 0.017% on the ExAc database would equate to a carrier rate of about 1 in 6,000 in the South Asian population, but it is likely that many of these patients would have subclinical disease, or other broad clinical diagnoses, such as multifocal choroiditis in which peripheral vascular lesions have been described14. Further screening of patients for variants in CAPN5 , with correlation to phenotype and protein structure modelling, will provide more insight into the effect on protein function resulting in disease.…”

Gender Differences in Birdshot Chorioretinopathy and the White Dot Syndromes: Do They Exist?

“…Though some of the above white dot syndromes have differences in the ratios of involvement of men to women, no clinical differences have been described between the sexes [1–3, 5, 8–15, 17–20, 24, 26–29, 31–33, 37, 38, 44–47, 50–52, 54–59, 61, 62, 65, 68–71]. In review of the reports, no distinctions were made between the genders in age of onset, initial clinical findings, or severity of disease.…”

Intravitreal ranibizumab in choroidal neovascularisation due to multifocal choroiditis and panuveitis syndrome

“…The difference between these diseases is that, in MCP, vitreous and anterior chamber inflammations are present in affected eyes 1. MCP occurs usually in women between the second and sixth decades of life 2 3. The disease is bilateral in the majority of patients, although it usually presents asymmetrically and many involved second eyes may be asymptomatic 1.…”