Susannah Q. Longmuir

Nine-year results of a volunteer lay network photoscreening program of 147 809 children using a photoscreener in Iowa.

PURPOSE To present the largest cohort of preschool children screened by the MTI PhotoScreener over a 9-year period from a single, statewide vision screening effort. DESIGN Cross-sectional study. PARTICIPANTS We included 147,809 children screened between May 1, 2000, and April 30, 2009 by a photoscreening program. METHODS Retrospective review of results from the Iowa photoscreening program using the MTI PhotoScreener. The photographs were taken by volunteers from local Lions clubs and sent to the University of Iowa for interpretation. Children who failed the photoscreening were referred to local eye care professionals, who preformed a comprehensive eye evaluation and forwarded the results to the Iowa KidSight program. MAIN OUTCOME MEASURES Number of screenings, referral rate, positive predictive value (PPV), follow-up rate, and associated costs per year are described. RESULTS Over the 9 years of the continuously operating program, 147,809 children underwent photoscreens to detect amblyopic risk factors at 9746 sites. Because of abnormal photoscreen results, 6247 children (4.2%) were referred. Of the children, 24.3% were evaluated by local ophthalmologists and 76.7% were seen by local optometrists. Between 2000 and 2009, the follow-up rate ranged from a low of 36.1% to a high of 89.5%, with an overall program follow-up rate after the addition of the follow-up coordinator of 81.3%. The overall PPV of the MTI PhotoScreener was 94.2%. Taking into account overall operating budget including salaries and associated costs, the cost of screening 1 child has been reduced to

Diffuse Anterior Retinoblastoma without Retinal Involvement

US9 per child. CONCLUSIONS The addition of a part-time follow-up coordinator to the photoscreening program produced 89.5% follow-up rate when screening 147,809 children for amblyopia risk factors over a 9-year period.

Prevalence and Characteristics of Abnormal Head Posture in Children with Down Syndrome: A 20-Year Retrospective, Descriptive Review

PURPOSE To present a unique case of an 8.5-year-old child with unilateral, anterior, pseudouveitis. He was found to have unilateral, invasive, small blue cell tumor of the anterior segment that was diagnosed as diffuse infiltrating retinoblastoma despite lack of retinal involvement on fundus examination or histopathologic analysis. DESIGN Interventional case report. PARTICIPANTS One patient. INTERVENTION The patient was treated with topical prednisolone acetate 1% and oral prednisone with no improvement in anterior chamber reaction. The patient underwent fine-needle aspiration biopsy (FNAB) of anterior chamber fluid, the results of which were consistent with a primitive neuroectodermal neoplasm, either retinoblastoma or medulloepithelioma. Retinoblastoma was favored strongly, and the patient underwent enucleation followed by chemotherapy with vincristine, carboplatin, and etoposide, and radiation to the eye socket of 4140 cGy total was performed. MAIN OUTCOME MEASURES The patient is alive and tumor free with follow-up of 5 years. RESULTS Microscopic examination demonstrated cells similar to those seen on the FNAB infiltrating the iris stroma, trabecular meshwork, Schlemms canal, and the inner portion of sclera in the region of the angle. No calcifications were identified. Serial sections of the entire globe were performed to determine the origin of the tumor. No retinal involvement was identified, and tumor was not seen to arise from the ciliary epithelium. Immunohistochemistry demonstrated positive staining with synaptophysin and negative staining with leukocyte common antigen and CD34. CONCLUSIONS This patient represents a case of diffuse anterior retinoblastoma with lack of obvious retinal involvement. Morphologic features typical of medulloepithelioma were not found on pathologic analysis. Although the patient lacked a retinal focus, he is alive at 5 years without evidence of recurrence of tumor.

Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity

PURPOSE To characterize the abnormal head posture (AHP) in children with Down syndrome (DS). The study had 3 aims: to estimate the prevalence of AHP, to describe the distribution of different causes for AHP, and to evaluate the long-term outcomes of AHP in children with DS evaluated at the University of Iowa Hospitals and Clinics between 1989 and 2009. DESIGN Retrospective chart review. PARTICIPANTS Two hundred fifty-nine patient records. METHODS The study data were analyzed using chi-square tests (the Fisher exact test when appropriate) to describe the relationship between the outcome of interest and each study covariate. A predictive logistic regression model for AHP was constructed including all the significant covariates. MAIN OUTCOME MEASURES Abnormal head posture. RESULTS Over the study period, 259 records of patients with DS were identified. Of these, 64 (24.7%) patients had AHP. The most frequent cause of AHP was incomitant strabismus in 17 (26.6%) of 64 patients. The second most frequent cause of AHP was nystagmus, in 14 (21.8%) of 64 patients. For a substantial number of patients with AHP, the cause could not be determined. They represented 12 (18.8%) of all the patients with AHP in this study and 12 (4.6%) of all patients with DS examined. When compared with patients with AHP from a determined cause, this subgroup has a statistically significantly (P = 0.027, Fisher exact test) higher percentage of atlantoaxial instability. In the study population, 9 (14.1%) of 64 patients with AHP had more than 1 cause for AHP. Refractive errors, ptosis, unilateral hearing loss, and neck and spine musculoskeletal abnormalities were responsible for AHP in a small percentage of patients. Of all the patients with AHP, 23 (35.9%) improved their head posture with treatment (glasses or surgery). An additional 6 (9.4%) patients improved their posture spontaneously, over time and without treatment. CONCLUSIONS The prevalence of AHP in the children with DS evaluated was 24.7%. From this analysis, having strabismus of any kind and particularly incomitant strabismus, nystagmus, or both is highly correlated with the development of an AHP. Almost 19% of DS patients with AHP had no definitive cause that could be determined.

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease beginning with facial and shoulder girdle weakness with variable progression. Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been found in association with FSHD. METHODS In this retrospective study, muscle affectedness severity was rated as mild, moderate, or severe by a neurologist masked to the retinal images. Three ophthalmologists masked to disease severity graded the degree of arterial and venous tortuosity on a scale of 1 to 4. An automated method estimated an index of tortuosity for arteries and veins from color fundus photographs. Spearman rank correlation coefficients were used to describe the relationship between retinal vessel tortuosity and disease severity. RESULTS Seven patients with an average age of 13 years (range, 7-36 years) were selected. Correlation between the subjective tortuosity for arteries, and the severity of FSHD was 0.78 (p = 0.039). The correlation coefficient for venous tortuosity was -0.06 and was not significant (p = 0.882). The correlation coefficient between the average algorithmic computer-generated tortuosity indices for arteries and FSHD severity was high (0.85, p = 0.016), but for veins it was low and not significant (0.19, p = 0.662). CONCLUSIONS The authors of previous reports have shown retinal vascular abnormalities did not correlate to FSHD disease severity. Our results suggest a correlation between the tortuosity of arteries and the severity of disease in FSHD patients. These results suggest the tortuosity of arteries can serve as a biomarker of severity of disease in these FSHD patients, either as determined by human experts or by an automated method.

Resident and fellow participation in strabismus surgery: effect of level of training and number of assistants on operative time and cost.

Larger imbalances on chromosome 4p in the form of deletions associated with Wolf–Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype–phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a microduplication of chromosome 4p, who presents with findings of macrocephaly, irregular iris pigmentation‐heterochromia, and preserved linear growth in addition to overlapping features of trisomy 4p such as seizures, delayed psychomotor development, and dysmorphic features including prominent glabella, low‐set ears, and short neck. Using a high‐density oligonucleotide microarray, we have identified a novel submicroscopic duplication involving dosage sensitive genes TACC3, FGFR3, and LETM1. The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p. This patients presentation and genomic findings help further delineate clinical significance of re‐arrangements in the 4p16 region without the involvement of WHS critical region.

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

OBJECTIVE To investigate the effect of the level of training and number of assistants on operative time for uncomplicated, 2-muscle, horizontal strabismus surgery at an academic institution. DESIGN Comparative case series. PARTICIPANTS A total of 993 children and adults between the ages of 6 months and 75 years. METHODS Retrospective chart review of strabismus surgeries performed between July 1, 2008, and December 31, 2012, by any of 3 attending surgeons assisted by a resident in the postgraduate year 3 (PGY3), fellow in the postgraduate year 5 (PGY5), or both. MAIN OUTCOME MEASURES Operative time (minutes) and associated operative cost (dollars). RESULTS There were 373 cases with 1 assistant and 44 cases with 2 assistants. Of all cases with 1 assistant, there were 200 cases with a PGY3 assistant an average operative time of 62.5 minutes (standard deviation [SD], 15.1) and 173 cases with a PGY5 assistant an average operative time of 59.0 minutes (SD, 14.7); the difference of 3.5 minutes was statistically significant (P = 0.02). The average operative time for all cases with 2 assistants (both PGY3 and PGY5) was 10.6 minutes longer than all cases with 1 assistant (P = 0.0002). No statistically significant variation in operative times was demonstrated when comparing cases with a PGY3 (P = 0.29) and PGY5 (P = 0.44) assistant in their respective first and last halves of the academic year, but operative times within individual quarters of the academic year were significant for PGY3 (P = 0.03) but not for PGY5 (P = 0.24) assistant cases. Operative times were significantly different for individual PGY3 (P = 0.03) but not PGY5 (P = 0.22) assistant cases. Cost per PGY3 assistant per year for additional operative time is

Juvenile xanthogranulomatosis with bilateral and multifocal ocular lesions of the iris, cornealscleral limbus, and choroid

3141.95. CONCLUSIONS Operative time in strabismus surgery increased with PGY3 participation and further increased with both assistants over either assistant alone. Operative times earlier in the year did not vary from those later in the year for PGY3 or PGY5 assistants. The difference in quarterly and individual PGY3 but not PGY5 assistant operative times suggests that efficiency in strabismus surgery varies by assistants with less experience or interest.

Retinal hemorrhages in intubated pediatric intensive care patients

Background: Branchio-Oculo-Facial syndrome (BOFS) is a rare, autosomal dominant developmental disorder that has a distinct phenotype with characteristic craniofacial abnormalities. We report a family with extensive ocular manifestations of BOFS caused by a novel mutation in the transcription factor AP-2 alpha (TFAP2A) gene. Materials and methods: Case report of phenotypic and genotypic characterization of a family with BOFS. Results: An infant presenting with anophththalmia/coloboma and subtle craniofacial symptoms was found to have a family history of congenital cataracts and colobomas in her mother. A mutation in the TFAP2A gene associated with BOFS (heterozygous H384Y in exon 7) was found in both the proband and her mother. This mutation had not been reported previously. Compared with other molecularly confirmed cases in the literature, this family has primarily ocular features, which are severe. Conclusions: BOFS can have profound ocular involvement without prominent extraocular features. When the syndrome presents in this way, it may be confused with isolated autosomal dominant chorioretinal coloboma. Testing for mutations in the TFAP2A gene is recommended to establish an accurate diagnosis for the family.

Quantitative measurement of retinal hemorrhages in suspected victims of child abuse

A 14-month-old boy with juvenile xanthogranuloma skin lesions presented with increased intraocular pressure, hyphema, anterior uveitis, iris mass, and a subconjunctival limbal mass of the right eye. He subsequently developed a subretinal mass in the left eye. The anterior uveitis resolved after 2 periocular injections of triamcinolone in addition to the administration of topical prednisolone and oral prednisone and methotrexate. The subretinal mass in the left eye also resolved during the course of 1 year. He developed a cataract in the right eye and underwent lensectomy with anterior vitrectomy. This is the first published case in which methotrexate was used as an adjunctive treatment of juvenile xanthogranuloma in a child.