Orbital pseudotumor is a benign condition that accounts for approximately 10% of all orbital mass lesions. Any part of the orbit may be involved. The etiology is unknown. The presentation may be either acute or subacute. Patients may present with a palpable mass, a swollen eyelid, congestion, pain, diminished ocular motility, and/or decreased visual acuity. Approximately, 25% of patients present with bilateral disease. A modest proportion of patients experience resolution of their symptoms without treatment. Biopsy is indicated for those who do not respond to, or relapse after, first-line therapy. Oral corticosteroids are the initial treatment and approximately 80% of patients respond. Roughly half of those who respond to corticosteroids relapse. Second-line therapy consists of either low-dose radiotherapy (20-30 Gy at 2 Gy per fraction), cytotoxic chemotherapy, or immunosuppressive agents. Radiotherapy results in long-term local control rates of 50% or higher. Limited lesions may be successfully resected. A small subset of patients may experience inexorable progression to a fixed, painful, sightless eye and require orbital exenteration.
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.
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