An early onset cone dystrophy due to CEP290 mutation: a case report.

Purpose: Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.

Methods: We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia.

[Painful Globe Luxation].

Background: Globe luxation due to incarceration of the eyelids behind the globe can occur in patients with proptosis and lax eyelids. It is important to identify this rare event to prevent recurrent episodes with possible serious complications, such as optic neuropathy.

History And Signs: We present two patients (aged 54 and 83, both male) with recurrent painful globe luxation due to lid incarceration.

High prevalence of immunoglobulin light chain gene aberrations as revealed by FISH in multiple myeloma and MGUS.

Multiple myeloma (MM) is a malignant B-cell neoplasm characterized by an uncontrolled proliferation of aberrant plasma cells in the bone marrow. Chromosome aberrations in MM are complex and represent a hallmark of the disease, involving many chromosomes that are altered both numerically and structurally. Nearly half of the cases are nonhyperdiploid and show IGH translocations with the following partner genes: CCND1, FGFR3 and MMSET, MAF, MAFB, and CCND3.