Refractive error in unilateral Duane syndrome.

PURPOSE: To investigate whether chronic co-contraction of the medial and lateral rectus muscles leads to higher against-the-rule astigmatism in affected versus fellow eyes in Duane syndrome. METHODS: A database of 4,103 patients of Dr. Arthur Jampolsky was queried for diagnosis of Duane syndrome. Inclusion criteria were unilateral Duane syndrome and complete data set. Refractive error was compared between Duane and fellow eyes. RESULTS: A total of 84 patients with unilateral Duane syndrome were identified. The spherical equivalent of Duane eyes and fellow eyes was similar (0.4 vs. 0.2 [P = 0.14]). Mean cylinder power was higher in Duane eyes compared to fellow eyes (0.7 vs 0.4 [P = 0.0003]). There was modest evidence of more against-the-rule astigmatism in Duane eyes compared to fellow eyes (P = 0.04) but no difference for with-the-rule astigmatism (P = 0.83). Duane compared to fellow eyes were, however, significantly more likely to have oblique astigmatism (P = 0.004) or any astigmatism at all (P = 0.0005). CONCLUSIONS: Duane eyes compared to fellow eyes had higher astigmatism that was more likely to be oblique. Our study lends support to the hypothesis that extraocular muscles may influence refractive error.

Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state.

PURPOSE: Identify risk factors for endophthalmitis after strabismus surgery (EASS) and relate these to incidence and outcome. METHODS: Ophthalmologists, who had operated, diagnosed or treated EASS, completed a case record form with 71 questions in six domains: Preoperative, Surgery, Perforation, Postoperative, Outcome and Experts' opinion. To estimate the age-specific incidence per number of strabismus operations in the Netherlands during 1994-2013, the age distribution of Dutch cases was compared with the age-specific rates of strabismus surgery in the Dutch Registry of Strabismus Operations and with population data. Exploratory data analysis was performed. The immune state was evaluated in six patients. Five enucleated eyes were studied histopathologically. RESULTS: None of the 26 patients (27 eyes with EASS) were between 9 and 65 years old, except for one patient with retinal haemorrhage followed by endophthalmitis. In the Netherlands during 1994-2013, the rate of EASS was approximately one per 11 000 strabismus operations, but one per 4300 for children aged 0-3 and one per 1000 for patients 65 and older. Endophthalmitis was diagnosed on postoperative day 1-4 in children aged 0-3. In all 15 children aged 0-5, the 16 affected eyes were phthisical, eviscerated or enucleated. The involved eye muscle had been recessed in 25 of 27 cases. It was a medial rectus in 15 of 16 children aged 0-6. It was a lateral (6), inferior (2) or medial (1) rectus in elderly. Scleral perforation went unnoticed in all children (no record in three) and in two of seven elderly (no record in two). Histopathology showed transscleral scarring compatible with scleral perforation in four patients but, in a two-year-old girl who had EASS together with a transient medial rectus palsy, the sclera underneath the former suture tract was not perforated but did contain the long posterior ciliary artery. CONCLUSIONS: Endophthalmitis after strabismus surgery (EASS) affects children and elderly, with a grave outcome in young children. It occurs after recession of the medial rectus muscle in children, and it may occur without scleral perforation. Age and perforation are key determinants that interact with other factors that determine the occurrence and fulminance of EASS.

Ophthalmic manifestations of perinatally acquired HIV in a US cohort of long-term survivors.

BACKGROUND/AIMS: To determine the ophthalmic manifestations of HIV in a cohort of long-term survivors of perinatally acquired HIV. METHODS: Twenty-two patients with perinatally acquired HIV who were aged ≥12 years were prospectively studied at a university clinic. They underwent complete ophthalmic examinations and fundus photography. Their medical histories, medications and CD4 counts were abstracted from the medical records. To evaluate for keratoconjunctivitis sicca, both HIV patients and 44 healthy controls (matched by age, gender and contact lens wear) underwent Schirmer testing and ocular surface staining. RESULTS: Nine male and 13 female HIV patients with mean age of 16.6 years (SD, 3.4) were examined. Of the 22 HIV patients, 21 had been treated with highly active antiretroviral therapy (HAART). Only one patient had a CD4 count nadir of <200 cells/µL. The mean visual acuity of the eyes of the HIV subjects was 20/22 (SD, 1.6 lines). No patient had cytomegalovirus retinitis. Four of the 22 (18%) HIV patients had strabismus. HIV subjects and controls had similar rates of abnormal Schirmer (9% and 14%, p=0.62) and ocular staining scores (p=0.29). CONCLUSIONS: In the post-HAART era, long-term survivors of perinatally acquired HIV exhibited little vision-threatening disease, but had a high prevalence of strabismus.

Clinical problems in strabismus: the Smith-Kettlewell Eye Research Institute symposium.

The Smith Kettlewell Eye Research Institute (SKERI), celebrating its 50th anniversary in 2014, hosted a symposium to identify the most pressing clinical problems in strabismus and binocular vision. Forty-five experts from around the world shared their perspectives at the San Francisco meeting, held November 6-9, 2012. Prior to the meeting, the organizers (TR, APW, RH, JB, AJ) asked attendees to identify the most pressing clinical problems in strabismus and to discuss them in a workshop-based format. The clinical problems were organized into the following six areas: (1) esotropias; (2) binocular vision: amblyopia, suppression, and diplopia; (3) intermittent exotropia; (4) "oblique dysfunctions"; (5) dissociated vertical deviation (DVD); and (6) new approaches to strabismus management. Herein we highlight of some of the clinical problems discussed at the meeting.

Errors in strabismus surgery.

OBJECTIVES: To determine the prevalence of and contributing factors for errors in strabismus surgery. METHODS: Five hundred seventeen of 1103 strabismus surgeons (46.87%) completed a survey administered during the 2011 American Association for Pediatric Ophthalmology and Strabismus national meeting or e-mailed to members of the association. RESULTS: One hundred seventy-three strabismus surgeons (33.5%) self-reported having operated on the wrong eye or muscle or performed the wrong procedure at least once. The mean error rate was 1 in 2506 (95% CI, 2128-2941) operations. Surgeons who performed fewer than the median 1500 procedures had an error rate 5.9 (95% CI, 4.1-8.2) times higher than surgeons who performed more than the median (P < .001). The most common factors contributing to errors were confusion between the type of deviation (esotropia/exotropia) and/or the surgical procedure (recession/resection) (34 of 114 responses [29.8%]), globe torsion (20 [17.5%]) leading primarily to inadvertent operation on the inferior rectus rather than the intended medial rectus muscle, and inattention and/or distraction (19 [16.7%]). Running more than 1 operating room (P = .02) and failing to mark eye muscles preoperatively (P = .03) were associated with an increased likelihood of error. CONCLUSIONS: Self-reported error in strabismus surgery is a complication approximately as common as periorbital cellulitis. Reducing error in strabismus surgery might entail confirming that the deviation matches the surgical plan preoperatively, more elaborate site marking, and involving an assistant in a preoperative verification of the specific eye muscles and surgical procedure.

Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study.

Aicardi syndrome is a rare congenital disorder with a classic triad of infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. We report the use of fluorescein angiography and spectral domain optical coherence tomography to examine the posterior segment structures in an 8-month-old girl with Aicardi syndrome. Most of the observed features correlated with previously published histopathological findings, but inner nuclear layer cysts have not been previously described. To our knowledge, this is the first study of the tomographic and angiographic chorioretinal features in vivo.

Effect of timing and duration of tamsulosin exposure on complications in resident-performed phacoemulsification.

BACKGROUND AND OBJECTIVES: Tamsulosin can cause intraoperative floppy iris syndrome and increase the risk of phacoemulsification complications. This study evaluated whether the risk of complications was associated with the timing or duration of preoperative tamsulosin exposure. PATIENTS AND METHODS: The current study was a retrospective review of electronic medical records of resident-performed phacoemulsification surgeries from 1998 to 2008 at a Veterans Administration Hospital. There were 73 eyes with recent tamsulosin exposure (within 30 days preoperatively) and 28 eyes with remote exposure (> 30 days preoperatively but within 3 years of surgery). RESULTS: There was a trend toward more total complications in recent compared with remote tamsulosin exposure cases (31.5% vs 14.3%, P = .09). A longer duration of tamsulosin use was not statistically associated with an increased risk of total complications. CONCLUSION: The authors were unable to detect a statistically significant effect of duration of tamsulosin use on the risk of intraoperative complications in phacoemulsification surgery.

Pathological findings in poststrabismus surgery endophthalmitis.

Bacterial entry into the vitreous cavity via inadvertent scleral perforation is one postulated mechanism for poststrabismus surgery endophthalmitis. In a review of 746 cases, we identified 2 pediatric enucleation specimens related to complications of strabismus surgery. In both cases, the patients developed postoperative endophthalmitis and no light perception vision, and the eyes were enucleated when they became phthisical or painful. In both submitted cases, pathology showed a thick band of scar tissue emanating focally from the sclera into the vitreous. Although no needle tracts were visualized, pathological findings were consistent with scleral perforation.

Clinicopathologic review of pediatric enucleations during the last 50 years.

PURPOSE: To evaluate diagnoses leading to enucleations in the pediatric age group over time. METHODS: All pathology reports of enucleation specimens at the University of California-San Francisco eye pathology laboratory from children (ages 0 to 18 years) from 1960 to 2008 were reviewed. The main outcome measures were the frequency of pediatric enucleation specimens in each diagnostic category as compared with total pathological laboratory volume over time, and the age and gender distribution of histopathological diagnostic categories over time. RESULTS: Specimens of 746 eyes from 729 pediatric patients were analyzed. Pediatric enucleated eyes constituted 2.7% of all specimens received at the pathology laboratory. The overall frequency of pediatric enucleation specimens did not change over time. Retinoblastoma specimens increased by a factor of 2.9 over time (p < 0.0001). The increase in retinoblastoma was offset by a decrease in nonretinoblastoma enucleations, which decreased by a factor of 3.8 between the 1960s and 2000s (p < 0.0001), driven by a decrease in enucleations caused by trauma (p < 0.0001). Beginning in the 1980s, pediatric enucleations caused by nonrhegmatogenous retinal detachment, nematode and non-nematode endophthalmitis, and congenital glaucoma decreased significantly. Retinoblastoma was the most common diagnosis overall (45%), in girls (60%), and in ages <5 years (78%). Trauma was the second most common diagnosis (32%) and the most common in boys (42%) and in children ages 6-12 (58%) and 13-18 (72%) years. CONCLUSIONS: A decrease in pediatric nonretinoblastoma enucleations was observed over time, possibly attributable to better diagnostic capabilities, surgical techniques, and public health interventions. The increase in retinoblastoma enucleations over time was likely due to the result of institutional referral bias.

Resident-performed phacoemulsification surgery in tamsulosin-treated patients.

OBJECTIVES: To compare intraoperative complication rates and visual outcomes for patients treated and not treated with tamsulosin hydrochloride who underwent resident-performed phacoemulsification, and to determine whether the recognition of intraoperative floppy iris syndrome in 2005 affected the subsequent complication rates for tamsulosin-treated patients. METHODS: This comparative retrospective cohort study included 101 tamsulosin-treated eyes and 404 non-tamsulosin-treated eyes from January 1, 1998, to August 31, 2008. Main outcome measures were major and minor complication rates and postoperative best-corrected visual acuity. Complication rates were compared between August 11, 1999, to December 31, 2005, and January 1, 2006, to September 3, 2008, for both tamsulosin-treated and non-tamsulosin-treated eyes. RESULTS: The major complication rates were 3.0% for tamsulosin-treated eyes and 8.9% for non-tamsulosin-treated eyes (P = .08), while the minor complication rates were 24.8% and 12.1%, respectively (P = .002). Both groups had an equal likelihood of attaining better than 20/40 postoperative visual acuities (82.2% vs 82.9%, respectively; P = .85). Frequency of major complications between tamsulosin-treated and non-tamsulosin-treated eyes was 6.0% vs 15.8%, respectively (P = .09), from August 11, 1999, to December 31, 2005, compared with 0.0% vs 2.0%, respectively (P > .99), from January 1, 2006, to September 3, 2008. CONCLUSIONS: Differences in the major complication rates for tamsulosin-treated and non-tamsulosin-treated eyes were not significant, whereas tamsulosin exposure was associated with a significant increase in minor complications. Both groups had similar, good postoperative visual outcomes. After 2005, a reduction in major complications was seen in both groups, attributed to programmatic changes in surgical education. Recognition of intraoperative floppy iris syndrome did not impart a significant additional protective effect in preventing major complications.

Analysis of clinical misdiagnoses in children treated with enucleation.

OBJECTIVE: To evaluate discordant clinical and pathological diagnoses leading to pediatric enucleations over time. METHODS: All pathology reports of pediatric enucleation specimens (subjects aged 0 to 18 years) from 1960 to 2008 were reviewed. Specimens with discordant clinical and pathologic diagnoses were further analyzed. Formalin-fixed, paraffin-embedded sections of enucleated eyes of any misdiagnosed cases were reevaluated. RESULTS: Of 729 pediatric patients (746 eyes) who had enucleation from 1960 to 2008, 29 patients (4.0%) and 30 eyes (4.0%) had discordant clinical and pathological diagnoses. The misdiagnosis enucleation rate decreased with each respective decade studied, with the highest rate of 6.5% (18 of 276 eyes) in the 1960s and no misdiagnoses from 1990 to 2008. Of the 369 eyes enucleated for the clinical indication of malignancy, 22 eyes (6.0%) were misdiagnosed in that no evidence of malignancy was found on histopathological examination. Of the 377 eyes enucleated for benign clinical indications, 7 cases (1.9%) were found to be malignant by histopathology. CONCLUSIONS: Misdiagnoses leading to pediatric enucleation have decreased during the past 5 decades, likely owing to improved diagnostic techniques. Benign and malignant intraocular conditions can simulate each other, especially retinoblastoma, Coats disease, nematode and bacterial endophthalmitis, panuveitis, and persistent hyperplastic primary vitreous.

The decline of pneumococcal resistance after cessation of mass antibiotic distributions for trachoma.

After 6 biannual mass distributions of oral azithromycin for trachoma in Ethiopian communities, 76.8% (95% confidence interval [CI], 66.3%-85.1%) of nasopharyngeal Streptococcus pneumoniae isolates from children aged 1-5 years were resistant to macrolides. Twelve and 24 months after the last azithromycin treatment, resistance decreased to 30.6% (95% CI, 18.8%-40.4%; P <.001 ) and 20.8% (95% CI, 12.7%-30.7%; P < .001), respectively. Macrolide resistance decreases after antibiotic pressure is removed.

Severe Hypotony Associated With Parry-Romberg Syndrome.

Parry-Romberg syndrome is a rare inflammatory disorder characterized by progressive hemifacial atrophy and ocular involvement. Two patients with Parry-Romberg syndrome who had mild heterochromic uveitis but developed profound ocular hypotony were evaluated. A 17-year-old girl and a 32-year-old woman with Parry-Romberg syndrome developed chronic uveitis with gradual worsening of intraocular pressure to 0 mm Hg. For the first time, ultrasound biomicrosopy found evidence of inflammation of the ipsilateral ciliary muscle in patients with hemifacial atrophy. The profound hypotony concomitant with ciliary body edema in two patients with Parry-Romberg syndrome provides a clue linking the systemic disease to the ocular findings.

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother.

Posterior subcapsular cataracts in children receiving adrenocorticotropic hormone (ACTH) for infantile spasms.

Posterior subcapsular cataract is a well-known complication of corticosteroid treatment. While this association has not been established for adrenocorticotropic hormone (ACTH) treatment, similar side effects would be expected for the 2 drugs given the mechanism of ACTH, which stimulates glucocorticoid synthesis and secretion. The authors report 2 children who were treated with ACTH for infantile spasms who developed bilateral posterior subcapsular cataracts. The authors recommend that children treated with ACTH be referred promptly to a pediatric ophthalmologist as these young, often developmentally delayed children may not exhibit recognizable signs of visual loss. Prompt evaluation and treatment of cataracts in children is important to prevent permanent vision loss from deprivation amblyopia.

Severe zone III retinopathy of prematurity in an infant with a birth weight of more than 1,500 grams.

The authors report zone III stage 3 retinopathy of prematurity requiring treatment in a former 1,692-g 30 6/7-week twin cared for in a modern intensive care nursery. This case highlights the need for identifying biomarkers that increase the risk of severe retinopathy of prematurity so that screening guidelines can be optimized.

Crystal-storing histiocytosis and crystalline keratopathy caused by monoclonal gammopathy of undetermined significance.

PURPOSE: The purpose of this study was to report the occurrence of crystalline keratopathy and of orbital infiltrative disease resulting from crystal-storing histiocytosis (CSH) in a patient with monoclonal gammopathy of undetermined significance. METHODS: The authors conducted a review of a medical record and immunohistopathologic studies. RESULTS: A 66-year-old man presented with a 3-year history of unilateral progressive ptosis, proptosis, and external ophthalmoplegia. Magnetic resonance imaging showed orbital fat expansion and extraocular muscle thickening with gadolinium enhancement. The patient also had bilateral crystalline keratopathy and had undergone penetrating keratoplasty in one eye. The urine and serum showed elevated levels of immunoglobulin, but the bone marrow aspirate was normal. The systemic evaluation was consistent with monoclonal gammopathy of undetermined significance. An orbital fat biopsy revealed histiocytes engorged with lambda light chain crystals. The corneal stroma also showed positive immunostaining for lambda light chains. The patient was diagnosed with orbital CSH and with lambda light chain crystalline keratopathy. CONCLUSIONS: CSH is characterized by the accumulation of reactive histiocytes filled with immunoglobulin crystals in various tissues and is frequently associated with systemic hyperglobulinemic states. For unknown reasons, in this patient, a systemic immunologic disorder led to lambda light chain abnormalities with histiocyte infiltration of the orbit and corneal deposition. Although CSH is rare, it should be part of the differential diagnosis of orbital infiltrative disease with or without crystalline keratopathy.