Anthony G. Quinn

The impact of thyroid eye disease upon patients’ wellbeing: a qualitative analysis

Background  Previous studies using quality of life (QoL) questionnaires have shown poor QoL in patients with thyroid eye disease (TED). However, predetermined questionnaires limit in‐depth investigation of psychosocial and emotional effects of TED. A qualitative approach allows detailed exploration of patients’ perceptions of wellbeing and can capture their lived experiences.

Ophthalmic findings in fetal anticonvulsant syndrome(s).

PURPOSE To report the prevalence of ocular abnormalities in a group of children diagnosed with fetal anticonvulsant (FAC) syndrome(s). DESIGN Retrospective, observational, noncomparative case series. PARTICIPANTS Forty-six children, age range 8 months to 16 years 5 months (mean, 7 years 1 month), with a confirmed diagnosis of an FAC syndrome. Thirty-seven subjects were exposed in utero to sodium valproate (29 as monotherapy), and the remainder (n = 9) to other anticonvulsants, mainly carbamazepine. METHODS A total of 46 subjects underwent ophthalmic assessment consisting of visual acuity, cover test, ocular movements, analysis of spectacle lens power, cycloplegic refraction, and anterior segment examination with portable slit lamp, plus direct and indirect ophthalmoscopy. MAIN OUTCOME MEASURES Refraction and ocular motility status. RESULTS Thirty-one of 46 (67%) had ocular abnormalities, most commonly errors of refraction (19 of 46; 41%). Myopia was common (14 of 28; 50%) in those exposed to valproate monotherapy and there were high frequencies of strabismus (20%), astigmatism (24%), and anisometropia (11%) in the group as a whole. Thirty-one percent of myopes and 27% of astigmates did not wear glasses, of whom three subjects and two subjects, respectively, were less than 8 years old and therefore at risk of anisometropic or ametropic amblyopia. One subject had epicanthus, one color vision deficiency, and one bilateral congenital cataract. CONCLUSIONS We conclude that (1) abnormal ophthalmic findings are common in subjects with confirmed FAC syndrome, in particular myopia in those with fetal valproate syndrome; (2) children with FAC syndrome should receive preschool vision testing; (3) preschool vision testing should be considered in all children exposed to anticonvulsants in utero.

Zinc therapy for night blindness in cystic fibrosis

This is the first report of a supplemented CF patient presenting with clinical vitamin A deficiency to be successfully treated with zinc therapy alone. Therefore in addition to retinol supplementation, normalizing serum zinc levels may be important in maintaining the vitamin A status of CF patients. The interactions and synergistic effects between the two micronutrients are discussed.

Cataract Surgery With Primary Intraocular Lens Implantation in Children With Chronic Uveitis

W e read with interest the case series by Nemet et al of 18 pediatric patients with uveitic cataracts who underwent surgery with primary intraocular lens implantation. Correction of aphakia following pediatric uveitic cataract surgery is controversial, and there is a widely held belief that these children should be left aphakic because of high complication rates and poor visual outcomes with lens implantation. However, several recent articles have supported the use of intraocular lenses. We reviewed our own data on 6 pediatric patients (9 eyes) aged between 2 years 9 months and 15 years 8 months who had uveitic cataracts and underwent cataract surgery with primary acrylic intraocular lens implantation between February 2, 2004, and August 21, 2006. Table 1 describes the preoperative patient characteristics. Three patients had juvenile idiopathic arthritis– related uveitis and 3 patients had non–juvenile idiopathic arthritis–related uveitis. Five of 6 patients were immunosuppressed with methotrexate preoperatively and postoperatively, while infliximab infusions and mycophenolate mofetil were selectively used postoperatively. There were no intraoperative surgical complications. Table2 summarizes the perioperative treatment and surgical results in each patient. One patient required 2 subsequent operations to clear the visual axis of inflammatory membranes. Visual acuity was 20/30 or better in all of the 9 eyes at the latest follow-up. We agree with Nemet and colleagues that primary intraocular lens implantation in pediatric uveitic cataracts, including juvenile idiopathic arthritis–associated uveitis, can be associated with excellent outcomes and should not be considered an absolute contraindication. Juvenile idiopathic arthritis probably represents a distinct uveitic entity and inflammation may be more difficult to control. We believe that long-term success depends critically on strict and sustained pre-

Cataract surgery in pediatric uveitis.

Uveitis in children is associated with several sight-threatening ocular complications, including the formation of cataracts. The surgical management of uveitic cataracts in children is both challenging and controversial and, unlike in adult uveitic cataracts, surgery has historically been associated with poor visual outcomes. Juvenile idiopathic arthritis-associated uveitis in particular poses unique therapeutic challenges and the issue of correction of aphakia in these patients remains a contentious one. The growing use of immunotherapies and, where needed, targeted biologic agents in childhood uveitis increases our potential to implant lenses and predict outcomes. The authors review the available evidence base for the treatment of these children.

Obstructive sleep apnea syndrome with bilateral papilledema and vision loss in a 3-year-old child

We describe bilateral papilledema and vision loss in a 3-year-old child with obstructive sleep apnea. Although lumbar puncture initially disclosed a normal opening pressure, cerebrospinal fluid (CSF) pressure monitoring during sleep confirmed intermittent episodes of elevated intracranial pressure corresponding to increased airway resistance. The association of obstructive sleep apnea and raised intracranial pressure is recognized in children with craniosynostosis but has not been reported in its absence.

Single medial rectus muscle advancement in stretched scar consecutive exotropia

PURPOSE To evaluate the results of advancing the medial rectus muscle alone in cases of consecutive exotropia due to a stretched medial rectus muscle attachment scar. METHODS Between 2003 and 2008, 12 eyes of 11 patients who underwent single muscle surgery for stretched scar consecutive exotropia were identified. Case notes were reviewed retrospectively. The primary outcome measure was the proportion of patients achieving the desired postoperative distance alignment of between 0Delta and 10Delta esotropia at 4 months. RESULTS The mean angle of deviation for distance prior to surgery was 33.1Delta exotropia. Limitation of adduction ranged from 0.0 to -3.5. At surgery, the medial rectus muscle was found at a mean of 16.5 mm from the limbus and advanced a mean of 8.6 mm. Adjustable sutures were used in 10 eyes. Two patients had postoperative adjustment due to an initial overcorrection of greater than 20Delta. Both developed a recurrence of exotropia. Three patients in this series achieved the desired postoperative alignment. Some had good or acceptable results, with surgery resulting in distance deviations within 10(Delta) of orthotropia in 7 cases. CONCLUSIONS In this series, excising the stretched scar and advancing the medial rectus muscle alone left the majority of patients with a residual small angle exotropia. Routine recession of the antagonist may therefore also be required, and further studies adopting this approach are called for.

Refractive outcomes after cataract surgery with primary lens implantation in infants

Aims: To show the refractive outcomes, accuracy of intraocular lens power selection, and visual outcomes and complications in infants undergoing cataract surgery. Methods: The refraction (spherical equivalent) of 14 operated eyes in 8 children aged <1 year was plotted over time. Preoperative and final recorded visual acuities were assessed. Results: The median follow-up was 37.25 months. The median initial postoperative refraction was +6.75 dioptres. Conclusions: Refractive outcomes for each eye were not entirely predictable and were variable between infants. However, there was a consistent pattern in each infant who underwent bilateral surgery, with both eyes following a similar pattern of refractive change with time: a decreasing myopic shift was seen in 8 eyes, possibly demonstrating emmetropisation. The two unilateral cases appeared to show a linear myopic shift. 4 eyes in 2 patients did not follow a myopic shift curve and one of these patients showed an early trend towards increased hyperopia. Definite causes for this erratic refractive change were not identified. A postoperative refraction >4.5 dioptres avoided early onset myopia. The range of difference between postoperative and predicted refraction using SRK-T was −2.85 to 2.97 dioptres. Most of the visual results are encouraging compared with historical data in older children.

Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trénaunay-Weber syndrome

Klippel-Trénaunay-Weber syndrome is characterized by the triad of capillary malformations (usually port-wine stains), varicose veins or venous malformations of unusual distribution, and soft-tissue or bony hypertrophy of an extremity. The syndrome can be diagnosed on the basis of 2 of these 3 features. In the atypical form of the syndrome, capillary malformations may be absent. Recognition is possible during infancy or early childhood, and evaluation and treatment is important to minimize morbidity. We describe the case of an 11-year-old girl who presented with hyphema after a Valsalva maneuver and was found to have persistent fetal vasculature in the affected eye. She had systemic features of Klippel-Trénaunay-Weber syndrome. Magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography scans of the brain and orbits were normal. Magnetic resonance imaging scan of the left hypertrophied lower limb revealed venous malformations leading to soft-tissue hypertrophy. To our knowledge, this is the first case of persistent fetal vasculature and hyphema in a patient with Klippel-Trénaunay-Weber syndrome.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Mucosal neuromas, thickened corneal nerves and marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) and often provide an early clue to the diagnosis of the syndrome. Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed ‘pure mucosal neuroma syndrome’.