Lacrimal outflow dysgenesis.

PURPOSE: To evaluate patients with lacrimal dysgenesis. DESIGN: Retrospective, nonrandomized, comparative case series. PARTICIPANTS: Fifty patients with lacrimal dysgenesis managed between 1992 and 2003. TESTING/INTERVENTION: The diagnosis of lacrimal outflow dysgenesis was made based on the following criteria: absent or hypoplastic punctum, canaliculus, lacrimal sac, and nasolacrimal duct, appearing in isolation or combination. Our management algorithm included observation, punctoplasty with intubation, or open lacrimal surgery, with or without intubation. MAIN OUTCOME MEASURE: Success, partial success, or failure of treatment. RESULTS: Lacrimal dysgenesis in our 50 patients (23 male and 27 female) involved 83 eyes, distributed as follows: proximal in 74 eyes (89%), distal in 27 (33%), and both in 18 (22%). Thirty (60%) patients presented with isolated lacrimal dysgenesis, and 20 (40%) presented with a systemic syndrome or dysmorphism. Thirty-three (66%) patients had bilateral involvement. Epiphora was the most common presenting symptom. Eighteen (36%) patients had a positive family history. Open lacrimal surgery was performed in a total of 29 (35%) of the 83 eyes: 25 had success, 3 had partial success, and 1 had failure. CONCLUSION: Both sporadic and hereditary forms of lacrimal outflow dysgenesis may present as an isolated finding or a part of a systemic syndrome or dysmorphism, occurring usually with bilateral involvement and presenting at a younger age in the setting of systemic anomalies. Proximal and distal lacrimal outflow systems may be involved with epiphora as the most common presenting symptom. The algorithm we have presented provides a systematic approach to the management of lacrimal outflow dysgenesis.

Idiopathic orbital inflammation: distribution, clinical features, and treatment outcome.

OBJECTIVE: To evaluate the distribution and clinical as well as treatment outcome characteristics of idiopathic orbital inflammation with the aim of delineating a more systematic approach to diagnosis and treatment. METHODS: A 10-year retrospective review of patients with idiopathic orbital inflammation treated at one institution. RESULTS: Ninety eyes in 65 patients (22 men and 43 women) were studied. Diagnoses were isolated dacryoadenitis (n = 21), isolated myositis (n = 19), concurrent dacryoadenitis and myositis (n = 5), orbital apex syndrome (n = 6), and idiopathic inflammation involving the preseptal region, supraorbital region, sclera, Tenon capsule, orbital fat, or optic nerve (n = 14). The mean age at presentation was 45 years. Pain and periorbital swelling were the most common clinical features and were observed in 45 (69%) and 49 (75%) patients, respectively. Seventeen patients (26%) had bilateral involvement. Biopsy was performed in 19 patients (29%) with atypical presentations or who failed to respond to the initial therapy. Patients were treated with steroids alone (n = 45), steroids and subsequent radiation therapy (n = 8), steroids and nonsteroidal anti-inflammatory agents (n = 6), nonsteroidal anti-inflammatory agents alone in mild cases (n = 2), and, rarely, radiation therapy without steroids (n = 1) or surgical debulking alone (n = 1). Of 65 patients, 41 (63%) represented treatment successes, with complete symptom relief at the time of the last follow-up, and 24 (37%) represented treatment failures, with partial or no relief of symptoms. Treatment failures were often characterized by recurrence of inflammation after a period of quiescence (58%) and unremitting, recalcitrant inflammation (38%); 1 patient ultimately required an exenteration. CONCLUSION: Systemic steroid with a slow taper has been the established first-line treatment for idiopathic orbital inflammation, but refractory cases accounted for a significant portion of treatment failures in our study, reflecting the need for a more systematic approach to the study of this multifaceted disease and for therapeutic alternatives to systemic steroids.

Idiopathic orbital inflammation: ocular mechanisms and clinicopathology.

Pathogenesis of idiopathic orbital inflammation remains elusive but several lines of evidence point to immune-mediated processes as the likely underlying ocular mechanism. The exact nature of the immunological process and possible role of infection need to be elucidated in greater depth. There is an obvious need for a more satisfactory animal model for orbital pseudotumor. Given the prevalence of recurrent and persistent orbital inflammation, therapeutic alternatives to corticosteroids need to be further explored and systematically investigated.