Frank Martin

Methods for a Population-Based Study of Myopia and Other Eye Conditions in School Children: The Sydney Myopia Study

Purpose: The Sydney Myopia Study will establish the prevalence of myopia and other eye diseases in a large representative sample of Sydney school children. It will also examine the relationship between myopia and potential modifiable risk factors and will assess potential gene-environment interactions by examining parents and siblings. Methods: The target population is a stratified random cluster sample of 1750 Year 1 (age 6 years) and 1500 Year 7 (age 12 years) students from Sydney metropolitan schools. Procedures (comprehensive parent-administered questionnaire and examination) involve standardized protocols to allow for comparison with international population-based data. Examinations include a detailed assessment of visual acuity, cover testing for strabismus, identification of amblyopia, slit-lamp examination, non-contact ocular biometry and cycloplegia (cyclopentolate) followed by autorefraction, optical coherence tomography, retinal thickness measurement, digital mydriatic retinal photography and aberrometry. Conclusions: The Sydney Myopia Study design and methodology will ensure valid findings on ocular development and health in a large representative sample of Sydney school children, for comparison with other population-based refraction data.

A systematic review of the diagnostic accuracy of ocular signs in pediatric abusive head trauma

TOPIC To review systematically the diagnostic accuracy of various ocular signs for pediatric abusive head trauma (AHT). CLINICAL RELEVANCE Intraocular hemorrhages (IOH), perimacular retinal folds, traumatic retinoschisis and optic nerve sheath hemorrhages have been reported as cardinal signs of AHT. The evidence base supporting the accuracy of this interpretation, however, has not been systematically reviewed. METHODS A systematic keyword search of MEDLINE, EMBASE, and Evidence-Based Medicine Reviews was conducted for original studies reporting ocular findings in AHT. Articles were graded using a checklist for systematic reviews of diagnostic accuracy. RESULTS The initial search yielded 971 articles, of which 55 relevant studies were graded, and 20 studies met inclusion criteria and were included in the review. The overall sensitivity of IOH for AHT was 75% and their specificity was 94%. Intraretinal hemorrhage at the posterior pole was the most common finding, although extensive, bilateral, and multilayered IOH were the most specific for AHT. Optic nerve sheath hemorrhages had a sensitivity and specificity for AHT of 72% and 71%, respectively. Traumatic retinoschisis and perimacular retinal folds were reported in 8% and 14% of AHT, respectively, but were not reported in other conditions. CONCLUSIONS Prospective, consecutive studies confirm that IOH in infants-particularly bilateral, extensive, and multilayered-are highly specific for AHT. Optic nerve sheath hemorrhages are significantly more common in AHT than in other conditions, in autopsy studies. Traumatic retinoschisis and perimacular folds are present in a minority of AHT, but rarely seen in other conditions.

The aetiology of perforating ocular injuries in children

Aims: To assess the aetiological factors associated with the occurrence of perforating ocular injuries in children in an urban setting and to assess the visual outcomes of such injuries. Methods: All cases of perforating ocular injury presenting to a single paediatric hospital (age less than 16 years) over a 17 year period were identified by a medical record search. All new cases of perforating ocular injury identified were included. All information was obtained retrospectively from the medical records. Results: There were 72 cases identified. The commonest causes of perforating ocular injury were sharp tools (knives/scissors) poked by the child into his/her own eye (17%), or objects thrown at the child (17%). Injuries were most likely to have occurred at home (58%). The age range for injuries was 8 months to 14 years 8 months. Perforating ocular injury was most frequent in the 3–6 year group (32%) followed by the 6–9 year group (25%). Males were more frequently involved than females (48–24). There was no correlation between the laterality of the eye, the time of day of the occurrence, or the day of the week of the occurrence. The final acuity achieved was better or equal to 6/12 in 36% and less than 6/60 in 31%. Injuries occurred more frequently on weekends than on weekdays. There were six enucleations (8%). Follow up was for an average period of 25 months. Conclusions: Penetrating ocular injury occurs most frequently in the home setting and mostly as the result of the use of sharp tools or by thrown objects. Prevention of penetrating ocular injury requires greater education of children and their carers especially on the potential dangers within the home.

Secondary glaucoma after paediatric cataract surgery

Aim: To determine the prevalence and risk factors associated with secondary glaucoma postcongenital cataract surgery. Methods: All children diagnosed as having congenital cataracts in a major children’s hospital between 1985 and 2005 were included in a retrospective case series. Medical records of 423 eyes among 283 patients who underwent cataract surgery with or without intraocular lens implantation at age ⩽16 for congenital cataract were reviewed. The main outcome measure was presence or absence of secondary glaucoma and time to glaucoma postsurgery. The following risk factors were evaluated: age at cataract surgery, presence of systemic anomalies, microcornea, persistent hyperplastic primary vitreous (PHPV), primary capsulotomy/anterior vitrectomy, primary intraocular lens implantation, secondary membrane surgery and duration of postoperative observation. Results: The statistical methods were the use of Kaplan–Meier survival analysis and Multivariate Cox hazards regression analysis. The mean follow-up was 6.3 (SD 5.0) years (median 4.6 years; range 0.5 to 20.3 years). Glaucoma developed in 36 of 234 patients (15.4%). Multivariate Cox proportional hazards regression analysis identified age less than 9 months at time of surgery (RR 2.9, 95% CI 1.3 to 7.7; p = 0.03), microcornea (RR 3.7, 95% CI 2.0 to 7.0; p<0.001), and follow-up time as important predictors of glaucoma. PHPV (RR 1.4, 95% CI 0.7 to 2.7; p = 0.41) and primary posterior capsulotomy/anterior vitrectomy (RR 2.2, 95% CI 0.9 to 5.5; p = 0.17) were not significantly associated with secondary glaucoma in the multivariate model. The mean time to glaucoma after congenital cataract surgery was 4.9 years (range 2 weeks to 16.8 years). Conclusion: Secondary glaucoma is an important sequela in patients who undergo surgery for congenital cataracts. It is imperative that these patients get lifelong surveillance, as glaucoma can occur years after the initial operation.

Prevalence and causes of visual impairment in craniosynostotic syndromes.

Background:  To assess the prevalence and causes of visual impairment in patients with craniosynostotic syndromes of Apert, Crouzon, Pfeiffer, Saethre–Chotzen and craniofrontonasal dysplasia.

Successful Treatment of Infantile Haemangiomas of the Orbit with Propranolol

Background:  Propranolol is a novel therapeutic agent in the treatment of cutaneous infantile haemangiomas. We assessed the effect of propranolol therapy in infantile haemangiomas of the orbit.

Outcomes in retinoblastoma, 1974-2005: the Children's Hospital, Westmead.

Background:  To report the 31‐year experience of outcomes in retinoblastoma from a single centre.

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In this study, next‐generation sequencing (NGS) of 32 cataract‐associated genes was undertaken in 46 apparently nonsyndromic congenital cataract probands, around half sporadic and half familial cases. We identified pathogenic variants in 70% of cases, and over 68% of these were novel. In almost two‐thirds (20/33) of these cases, this resulted in new information about the diagnosis and/or inheritance pattern. This included identification of: new syndromic diagnoses due to NHS or BCOR mutations; complex ocular phenotypes due to PAX6 mutations; de novo autosomal‐dominant or X‐linked mutations in sporadic cases; and mutations in two separate cataract genes in one family. Variants were found in the crystallin and gap junction genes, including the first report of severe microphthalmia and sclerocornea associated with a novel GJA8 mutation. Mutations were also found in rarely reported genes including MAF, VIM, MIP, and BFSP1. Targeted NGS in presumed nonsyndromic congenital cataract patients provided significant diagnostic information in both familial and sporadic cases.

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum

IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive case series was conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended the Westmead Childrens Hospital, Sydney, from 1981-2012. EXPOSURE Cases were grouped on the basis of the presence or absence of an optic fissure closure defect (OFCD); those with OFCD were further subdivided into microphthalmic and nonmicrophthalmic cases. Anophthalmic cases were considered as a separate group. MAIN OUTCOMES AND MEASURES Associated ocular and systemic abnormalities and inheritance patterns were assessed. RESULTS Of 141 cases, 61 (43%) were microphthalmic non-OFCD (NOFCD), 34 (24%) microphthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were unclassified. Sixty-three (45%) had bilateral disease. Eighty-four patients (60%) had an associated ocular abnormality; of these, cataract (P < .001) and posterior segment anomalies (P < .001) were most common in the NOFCD group. Forty-eight (34%) had an associated systemic abnormality, most commonly neurological, musculoskeletal and facial, urological and genital, or cardiac. Neurological abnormalities were most common in the anophthalmic group (P = .003), while urological abnormalities were particularly seen in the OFCD groups (P = .009). Familial cases were identified in both the OFCD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families. CONCLUSIONS AND RELEVANCE This series indicated that the OFCD/NOFCD distinction may be useful in guiding evaluation for ocular and systemic associations, as well as the direction and analysis of genetic investigation.

Paediatric uveitis: a Sydney clinic experience

Purpose: The aim of this study was to retrospectively review uveitis cases at The Childrens Hospital at Westmead, Sydney, since its inception in 1997 to 2001, including patients presenting at the Camperdown, Sydney, campus between 1989 and 1997 attending Westmead for further care. Comparison is made with international centres.