ABSTRACT
PURPOSE: To report clinical observations and surgical management in a large series of patients with orbitofacial neurofibromatosis type 1 (OFNF). PATIENTS AND METHODS: Patients were identified and medical records reviewed for demographic data, ophthalmologic examinations, surgical interventions, and procedure outcome to create a retrospective, non-comparative case series of patients with OFNF seen at one medical centre over a 23-year period. RESULTS: Sixty patients with OFNF (31 females and 29 males; mean age, 14 years) were followed for an average of 5.7 years. Presenting signs and symptoms included eyelid swelling in all patients, ptosis in 56 (93.3%), proptosis in 34 (56.6%), dystopia or strabismus in 30 (50%), and decreased visual acuity in 50 (83.3%). Surgical intervention included ptosis repair in 54 (90%; mean 1.6 surgical procedures), facial and orbital tumour debulking in 54 (90%; mean 2.3 surgeries), and canthoplasty in 28 (46.6%) patients. Eleven patients required enucleation or exenteration of a blind eye. CONCLUSION: Patients with OFNF often require multiple procedures to preserve vision, prevent additional disfigurement, and achieve cosmetic rehabilitation. Patients need regular ophthalmological monitoring given the potential for progressive visual and cosmetic consequences.
Subject(s)
Facial Neoplasms/surgery , Neurofibromatosis 1/surgery , Orbital Neoplasms/surgery , Adolescent , Adult , Child , Child, Preschool , Facial Neoplasms/pathology , Female , Follow-Up Studies , Humans , Infant , Magnetic Resonance Imaging , Male , Middle Aged , Neurofibromatosis 1/pathology , Orbital Neoplasms/pathology , Retrospective Studies , Saudi Arabia , Tomography, X-Ray Computed , Visual Acuity , Young AdultABSTRACT
AIM: To study the motility pattern, underlying mechanism, and management of patients who complained of double vision after cataract surgery. METHODS: A retrospective case note analysis of 150 patients presenting with diplopia after cataract surgery to an orthoptic clinic over a 70-month period. Information was retrieved from orthoptic, ophthalmological, and operating room records. RESULTS: A total of 3% of patients presenting to the orthoptic clinic had diplopia after cataract surgery. We grouped these according to the underlying mechanisms which were: (1) decompensating pre-existing strabismus (34%), (2) extraocular muscle restriction/paresis (25%), (3) refractive (8.5%), (4) concurrent onset of systemic disease (5%), (5) central fusion disruption (5%), and (6) monocular diplopia (2.5%). Twenty per cent of the patients could not be categorised with certainty. After infiltrational anaesthesia, extraocular muscle restriction/paresis was the commonest presentation, while decompensation of preexisting strabismus was commonest with topical anaesthesia.For the 150 patients seen, prisms were the commonest form of treatment prescribed (64%) either in isolation or in combination with other treatment, including surgery (19%). Convergence and divergence insufficiency/paresis patterns were also common. A changing motility pattern was noted in some patients who had early documentation, with increasing comitance over time (spread of comitance). Partial resolution made it difficult to clearly identify the underlying mechanism in patients with late documentation. CONCLUSION: Double vision is a troublesome complication of otherwise successful cataract surgery. The use of topical anaesthesia does not abolish this surgical risk.
Subject(s)
Cataract Extraction/adverse effects , Diplopia/etiology , Abducens Nerve Diseases/complications , Adolescent , Adult , Aged , Aged, 80 and over , Anesthesia, Local/methods , Diplopia/therapy , Female , Humans , Male , Middle Aged , Ocular Motility Disorders/etiology , Ophthalmoplegia/etiology , Refraction, Ocular , Retrospective Studies , Risk Factors , Strabismus/complications , Young AdultABSTRACT
BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive function. METHODS: We examined nine affected individuals from five consanguineous Saudi Arabian families, all of whom harbored the same I75-I76insG homozygous mutation in the HOXA1 gene. Patients underwent complete neurologic, neuro-ophthalmologic, orthoptic, and neuropsychological examinations. Six individuals had CT, and six had MRI of the head. RESULTS: All nine individuals had bilateral Duane retraction syndrome (DRS) type 3, but extent of abduction and adduction varied between eyes and individuals. Eight patients were deaf with the common cavity deformity of the inner ear, while one patient had normal hearing and skull base development. Six had delayed motor milestones, and two had cognitive and behavioral abnormalities meeting Diagnostic and Statistical Manual of Mental Disorders-IV criteria for autism spectrum disorder. MRI of the orbits, extraocular muscles, brainstem, and supratentorial brain appeared normal. All six appropriately studied patients had cerebrovascular malformations ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis. CONCLUSIONS: This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population. Similarities between this syndrome and thalidomide embryopathy suggest that the teratogenic effects of early thalidomide exposure in humans may be due to interaction with the HOX cascade.
