Paul J. Rychwalski

Findings of perinatal ocular examination performed on 3573, healthy full-term newborns

Objective To document the findings of a newborn eye examination programme for detecting ocular pathology in the healthy full-term newborn. Methods This is a cross-sectional study of the majority of newborns born in the Kunming Maternal and Child Healthcare Hospital, China, between May 2010 and June 2011. Infants underwent ocular examination within 42 days after birth using a flashlight, retinoscope, hand-held slit lamp microscope and wide-angle digital retinal image acquisition system. The retinal fundus examination utilised the RetCam wide-field digital imaging system (Clarity Medical Systems, Pleasanton, California, USA). The external eye, pupillary light reflex, red reflex, opacity of refractive media, anterior chamber and posterior segments were also examined. Results A total of 3573 healthy full-term newborns were enrolled and examined in the programme. There was detection of 871 abnormal cases (24.4%). The majority of abnormal exams were 769 (21.52%) retinal haemorrhages. Of these, there were 215 cases of significant retinal haemorrhage, possible sight threatening or amblyogenic, representing 6.02% of the total. In addition, 67 cases (1.88%) involved macular haemorrhage. The other 107 cases (2.99%) with abnormal ocular findings included subconjunctival haemorrhage, congenital microphthalmos, congenital corneal leukoma, posterior synechia, persistent pupillary membrane, congenital cataract, enlarged C/D ratio, retinal hamartoma versus retinoblastoma, optic nerve defects, macular pigment disorder and non-specific peripheral retinopathy. Conclusion Ocular examination of healthy newborns leads to the detection of a significant number of ocular pathologies. The most commonly discovered ocular abnormality during examination of the newborns in this study is retinal haemorrhage. The long-term impact of these findings is unknown. Although presumed by some to benign, neonatal retinal haemorrhages due to birth trauma could be involved in altering visual development. Further work, including prospective examination of newborns with long-term follow-up, is needed and supported by our findings.

Office probing for treatment of nasolacrimal duct obstruction in infants

PURPOSE To determine whether demographic or clinical factors are associated with the outcome of office-based nasolacrimal duct probing for the treatment of congenital nasolacrimal duct obstruction (NLDO). METHODS In two multicenter prospective studies, 384 eyes of 304 children aged 6 to <15 months with NLDO underwent a nasolacrimal duct probing performed in the office using topical anesthesia. Treatment success, defined as no clinical signs of NLDO (epiphora, increased tear lake, or mucous discharge) and no reoperation, was assessed 1 month after probing in one study and 6 months after probing in the other study. Data from both studies were pooled to evaluate associations between baseline characteristics and treatment success. RESULTS Office probing was successful in 75% of eyes overall (95% CI, 70%-80%). The procedure was less successful in eyes of children with bilateral NLDO compared with unilateral NLDO (63% vs 80%; relative risk = 0.78 [95% CI, 0.66-0.92]) and in eyes that had 2 or 3 clinical signs of NLDO compared with one (71% vs 83%; relative risk = 0.88 [95% CI, 0.81-0.96]). Treatment success did not appear to be related to age, specific clinical signs of NLDO, prior treatment, or research study. CONCLUSIONS Performing nasolacrimal duct probing in the office successfully treats NLDO in the majority of cases in children aged 6 to <15 months. The success rate is lower with bilateral disease or when more than one clinical sign of NLDO is present.

A Novel Case of Bilateral High Myopia, Cataract, and Total Retinal Detachment Associated with Interstitial 11q Deletion

Purpose: Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome’s phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype. Methods: Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments. Results: This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11.

Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis coli (APC) gene mutation

A 17-year-old boy with adenomatous polyposis and a history of an adenomatous polyposis coli (APC) gene mutation (IVS13(-2) A>G) presented for evaluation of vertical, binocular diplopia. Examination was suggestive of a fourth (trochlear) nerve palsy. A history of headaches was elicited and led to further investigation with neuroimaging, which identified a germinoma in the tectal plate and secondary hydrocephalus. We report the clinical, radiological, and histopathological findings of this patient, who to our knowledge is the first reported case of a germinoma occurring in association with adenomatous polyposis.

Astrocytic Hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas). In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2. Herein we present an 8- year-old girl with NF2 and astrocytic hamartoma of the optic disc. This patient had been previously diagnosed with NF1 on the basis of multiple CAL macules and suspected subcutaneous neurofibromas. However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2. Subsequent molecular genetic analysis confirmed the NF2 diagnosis. Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2. Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.

Effect of granulocyte colony-stimulating factor on the incidence of threshold retinopathy of prematurity

PURPOSE To study the effect of granulocyte colony-stimulating factor (GCSF) on the incidence of threshold retinopathy of prematurity (ROP). METHODS A retrospective chart review of all neonates who received GCSF at our neonatal intensive care unit over a period ranging from January 2003 to September 2007 was performed. Of the 213 patients identified, 50 patients with birth weight <1,500 g and gestational age <32 weeks were included in this study. The incidence of threshold ROP in this subset was compared to a control group (n = 161) obtained from Vermont Oxford Network ROP database over the same time period. The two data sets were cross-referenced to exclude any patient receiving GCSF from the control data. RESULTS The average birth weight was 913 g in GCSF patients and 847 g in controls. The average dose of GCSF was 10.4 microg (range, 1.2-21.6 microg). The average age at administration of GCSF was 12 days after birth (range, 0-34 days). Out of 50 patients in the GCSF group, 5 (10%) required laser treatment, whereas in the contol group, 30 (18.6 %) required laser treatment; this difference was not statistically significant. CONCLUSIONS There was a suggestion of a decreased incidence of threshold ROP, leading to reduced need for laser treatment, in patients who received GCSF, but the observed differences were not statistically significant. The authors anticipate that these findings will lead to further study of the upstream regulators of neovascularization.

Outcomes of Strabismus Surgery with or without Trainee Participation as Surgeon

PURPOSE To compare success rates of strabismus surgery that involves trainees versus those performed solely by staff surgeons. DESIGN Retrospective, comparative case series. SUBJECTS Patients undergoing eye muscle surgery for primarily horizontal deviations. METHODS Retrospective comparative case series of 543 patients (921 eyes) undergoing eye muscle surgery, with or without trainee participation, for horizontal deviations. MAIN OUTCOME MEASURES Success in surgery defined as residual horizontal deviations of 10 prism diopters or less. RESULTS Trainees were involved in surgeries on 396 patients (672 eyes), whereas only staff surgeons operated on 147 patients (249 eyes). After minimum follow-up of 8 weeks, there was no overall significant difference between the success rates of procedures that involved trainees as surgeons and those that did not (P = 0.59). CONCLUSIONS The involvement of trainees as operators in surgeries on horizontal eye muscles does not result in a worse outcome than surgeries exclusively performed by staff. With a shift toward competency-based education and more scrutiny of patient outcomes, these data further support the quality of surgical care provided by trainees.

Superior oblique tendon (Brown's) syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis

We report two patients who presented with Browns syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Browns syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA) phenotype. These cases highlight ophthalmologic findings and diagnostic considerations with respect to Browns syndrome and associated childhood onset rheumatologic disease.

Retinoschisis and Hyperopia Associated with Partial Monosomy of 6q and Partial Trisomy of 11q

ABSTRACT Background: Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Genes other than X-linked retinoschisis 1 gene have rarely been implicated in association with hereditary retinoschisis. Methods: We describe a 9-year-old male who presented with several phenotypic features associated with partial monosomy of chromosome 6q and partial trisomy of chromosome 11q, including myelomeningocele, mental and growth retardation, seizures, microcephaly, scoliosis, and facial dysmorphisms, as well as novel ocular findings including bilateral retinoschisis and hyperopia. Results: This case report highlights the necessity for a detailed ophthalmic examination of patients with both 6q deletions as well as 11q duplications to ensure accurate and timely diagnosis and treatment of the complications associated with the described ocular conditions.

Paediatric intraocular lens placement: how clear is the way forward?

In this edition of BJO , Shenoy et al write of their experience with secondary intraocular lenses (IOLs) placed in aphakic children: ‘Refractive outcomes and prediction error following secondary intraocular lens implantation in children: a decade long analysis’. The authors analysed records of 104 children less than 16 years of age, who underwent secondary IOL implantation for aphakia following congenital cataract surgery. The relationship between age at secondary IOL implantation, axial length, keratometry readings and the difference between final refraction and the predicted value (prediction error or PE) was investigated. Prediction error in the enclosed study was affected by the biometry method as well as the age of the patient at the time of secondary IOL placement. Age-based refraction targets are frequently used in paediatric cataract surgery. The current study reviews the possible sources of error in the final outcome. Additionally, it might be useful to look at some of the other present and future challenges related to the use of IOL in children. Less than a decade after Sir Harold Ridley’s first IOLs were implanted in adults, Dr Edward Epstein, a South African, and Prof D Peter Choyce of the UK, successfully implanted these lenses in children.1 It would take another 20-some years before the Federal Drug Administration of the USA approved the IOL for use in adults, an approval that still does not extend to the use of IOL in children. Nevertheless, IOL implantation after cataract removal in children, especially over the age of two years, has become commonplace. If one speaks only of prevalence, paediatric cataract pales in comparison with that of adults. However, if we take into consideration the burden of blindness in terms of years impacted, then each case of preventable paediatric blindness due to cataract weighs heavily on society. The major barrier to successful …