Characteristics of orbital lymphoma: a clinicopathological study of 26 cases.

OBJECTIVE: Evaluation of the medical data of patients with orbital and adnexal lymphoma. DESIGN: Cohort study of all cases diagnosed with orbital or adnexal lymphoma at Meir Medical Center between 1993 and 2007. PARTICIPANTS: Twenty-six patients, with intraorbital or subconjunctival masses with orbital involvement, were examined and followed up between 1 and 8 years. MATERIALS AND METHODS: Examined data included: clinical presentation, age, gender, imaging, tumor location, surgical management, and pathological diagnosis. RESULTS: Presenting signs and symptoms included proptosis, eyelid lesions, tearing, chemosis, decreased visual acuity, ptosis, pain, squint, and optic nerve compression. In five cases, lymphoma was misdiagnosed on neuroimaging. Bone changes were seen in four patients. All cases were B cell lymphomas; with the majority (22 cases) of small B cell type; consisting of primary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue and two cases of small cell lymphoma. One small cell lymphomas was of follicular type on a background of CLL, and the other was CLL/SLL type. Fourteen cases were primary orbital disease, and 12 cases were systemic disease. Macroscopic appearance of lymphoma at open biopsy was characteristic in most cases. Flow cytometry phenotyping gave rapid reliable diagnosis of the disease. CONCLUSIONS: Epiphora or chemosis in the presence of an orbital mass should alert the ophthalmologist to suspect lymphoma. Lymphoma may be easily misinterpreted on neuroimaging for other diseases. Bone changes seen on CT are more common than is generally perceived. Macroscopic appearance at open biopsy was characteristic.

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP. Genome-wide homozygosity mapping was conducted in one Dutch and one Israeli family affected by arRP. The families were found to share a 5.9 Mb homozygous region on chromosome 2p23.1-p23.3. A missense variant in one of the genes residing in this interval, C2ORF71, has recently been reported to be associated with RP. C2ORF71, encoding a putative protein of 1,288 amino acids, was found to be specifically expressed in human retina. Furthermore, RT-PCR analysis revealed that in the mouse eye, C2orf71 is expressed as early as embryonic day 14. Mutation analysis detected a 1 bp deletion (c.946 del; p.Asn237MetfsX5) segregating with RP in the Dutch family, whereas a nonsense mutation (c.556C > T; p.Gln186X) was identified in the Israeli family. Microsatellite-marker analysis in additional Israeli families revealed cosegregation of a C2ORF71-linked haplotype in one other family, in which a 13 bp deletion (c.2756_2768 del; p.Lys919ThrfsX) was identified. Clinically, patients with mutations in C2ORF71 show signs of typical RP; these signs include poor night vision and peripheral field loss, typical retinal bone-spicule-type pigment deposits, pale appearance of the optic disk, and markedly reduced or completely extinguished electroretinograms. In conclusion, truncating mutations in C2ORF71 were identified in three unrelated families, thereby confirming the involvement of this gene in the etiology of arRP.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

PURPOSE: This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. METHODS: Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing. RESULTS: A combination of haplotype analysis and genome-wide homozygosity mapping indicated linkage to the USH1B locus in two families, USH1C in one family and USH1G in another family. Sequence analysis of the relevant genes (MYO7A, USH1C, and USH1G) led to the identification of pathogenic mutations in all families. Two of the identified mutations are novel (c.1135-1147dup in MYO7A and c.206-207insC in USH1G). CONCLUSIONS: USH1 is a genetically heterogenous condition. Of the five USH1 genes identified to date, USH1C and USH1G are the rarest contributors to USH1 etiology worldwide. It is therefore interesting that two of the four Israeli Arab families reported here have mutations in these two genes. This finding further demonstrates the unique genetic structure of the Israeli population in general, and the Israeli Arab population in particular, which due to high rates of consanguinity segregates many rare autosomal recessive genetic conditions.

CT definition of the surgical apex in the orbit.

The orbital apex is an undefined but well understood concept of Orbital Surgeons. We sought to determine the surgical apex area specifically where the volume ratio decreases significantly impacting on the optic nerve. A retrospective analysis using PACS program processing, measured the right retrobulbar space volume changes in 100 randomly selected cases without orbital pathology where CT was performed for non-ophthalmic indications. Volume of the retrobulbar space was measured between two recognizable landmarks. The first landmark being the point of exit of the optic nerve from the eye and the second landmark the optic nerve's point of exit from the orbit. The measured length between these two points was divided into five equal segments, V1-V5. The volumes of all 5 segments were compared and the most significant area of volume depletion was established. The mean numeric value of measured orbital volumes was compared. A ratio difference of V1/V2 was less than 2, V2/V3 was 2.32 (± 0.27), V3/4 was 3.24 (± 0.39), and V4/V5 was 5.67 (± 1.66). The most remarkable difference in ratio was between V4 and V5 (mean 5.67 ± 1.66 with p < .0001). The V3 segment (the posterior 3/5 of the retrobulbar space volume) is the location where decrease in orbital volume impacts, and measured ratios are statistically significant. We defined the surgical apex as the posterior 3/5 of the retro-bulbar orbital space. It is consequently the area of higher risk for optic nerve compression. This definition could be routinely utilized by ophthalmologists and neuroradiologists when evaluating masses affecting the orbit.