Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.

BACKGROUND: Osteopathia striata combined with cranial sclerosis (OS-CS) is an inherited skeletal dysplasia that manifests with macrocephaly, orofacial abnormalities, thickened craniofacial bones, and vertically oriented radiodensities of the long bones. CASE REPORT: Here, we present a severe case of OS-CS in a 4-year-old girl causing optic neuropathy as shown by radiographic evidence, ophthalmic findings, and histopathology. Previous genetic testing in this patient revealed a de novo heterozygous mutation in AMER1 (c.1057C>T, p.Arg353Ter). Although the patient had a pre-existing, appropriately functioning, ventriculoperitoneal (VP) shunt, a subsequent MRI of the brain and orbits showed narrowing of the bilateral optic nerve canals secondary to osseous thickening causing bilateral optic nerve atrophy, worse on the left. The patient underwent staged bilateral orbital osteotomies, optic canal decompression, and bilateral frontal craniotomy, and at 11 months postoperatively, her vision remained stable. Conclusions: While up to 50% of the patients with OS-CS may experience hearing loss due to cranial nerve compression, we present a case of severe visual loss secondary to OS-CS-associated optic nerve compression.

Bilateral posterior tenectomy of the superior oblique muscle for the treatment of A-pattern strabismus.

PURPOSE: To evaluate the efficacy of bilateral posterior superior oblique tenectomy for the treatment of A-pattern strabismus due to superior oblique overaction regardless of the magnitude of the pattern. METHODS: The medical records of patients with A-pattern esotropia or exotropia in the presence of superior oblique overaction who underwent combined horizontal muscle surgery along with bilateral superior oblique posterior 7/8 tenectomy from 2003 to 2013 were retrospectively reviewed. Patients with at least 3 months' follow-up were included. RESULTS: A total of 73 patients were included. Of these, 46 had esotropia; 27, exotropia. The preoperative A-pattern deviation for the study population was 19.6(Δ) ± 11.4(Δ) (range, 10-60), with a final postoperative patten collapse of 18.2 ± 3.6. Superior oblique overaction was 2.3 ± 0.7 preoperatively and 0.3 ± 0.7 postoperatively. Overall, 87.7% of patients had a successful collapse of their pattern to <10(Δ) following the initial bilateral superior oblique posterior tenectomy, with an additional 4.1% following a second procedure. Of patients with a pattern deviation of <25(Δ), 87.9% had successful collapse of the pattern following 1 surgery, and 86.7% of patients who had a pattern of ≥25(Δ) had successful collapse. Postoperatively, 7 patients demonstrated mild inferior oblique overaction. No surgical complications were noted. CONCLUSIONS: A uniform dose of bilateral posterior 7/8 tenectomy surgery successfully collapses A-pattern deviations of all magnitudes.

Use of immunosuppressive agents in uveitis.

PURPOSE OF REVIEW: This review summarizes current patterns in the use of immunosuppressive agents in patients with uveitis. RECENT FINDINGS: A number of immunosuppressive agents are currently available for the treatment of uveitis. Reports of safety and efficacy, although numerous, have been largely nonrandomized and performed without controls, limiting, to some extent, the strength and generalizability of their conclusions. Nonetheless, the volume of case reports and case series provides compelling evidence that immunosuppressive agents are effective at providing long-term control in patients with moderate to severe chronic or recurrent uveitis. The choice of immunosuppressive agent is complex, and depends on the cause and severity of the patient's underlying inflammation, the presence or absence of associated systemic inflammation, and the patient's prior response to immunosuppressive treatments. SUMMARY: Although corticosteroids remain the primary initial treatment for patients with uveitis, use of noncorticosteroid immunosuppressive agents in selected patients with uveitis allows for improved control and decreased risk of corticosteroid-induced side effects.