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Aim The aims of this study were to make an inventory of the disease in Ireland, to acquire better knowledge of the relationship between genetic makeup and phenotypic ocular presentation and, finally, through literature review and personal experience, to establish clear guidelines on best practice in the management of children with this rare condition both in terms of screening and follow-up. Methods All patients who attended the dermatology and genetic clinic in Our Lady's Hospital for Sick Children, Crumlin, with incontinentia pigmenti (IP) were contacted and invited to attend the eye clinic for ocular assessment. Children who were already attending the ophthalmic services before commencement of the study had their charts reviewed for assessment. Results 11 of 19 patients agreed to attend the clinic for ocular assessment. Of these patients, nine had genetic testing. The mean age of the patients at the examination was 8 years (3 months to 29 years). In 10 patients, IP was the result of a spontaneous mutation, whereas the condition was inherited from an affected mother in one patient. Of the 11 patients with IP, 5 have visually significant ocular findings (47%). We describe the case history of four of these children briefly to outline the severity of this condition. Conclusion Our patients had a significant percentage of ocular abnormalities (47%). We have outlined an examination schedule for patients with and without retinal pathology and recommend fluorescein angiography in patients with retinal pathology to fully determine the extent of ischaemia. Like other studies, early treatment with peripheral retinal photocoagulation to reduce the risk of retinal detachment is recommended in this study. [ABSTRACT FROM AUTHOR] more...

Aim: Retinopathy of prematurity is a significant global cause of childhood blindness. This study aims to identify serum biomarkers that are associated with the development of ROP., Methods: A systematic review and meta-analysis was conducted using PRISMA guidelines. Three databases were searched (Pubmed, Scopus and Web of Science) from 2003 to March 2023. Only studies investigating serum biomarker levels in preterm infants (<37 weeks gestation) were included., Results: Meta-analysis suggests that low serum IGF-1 levels have a strong association with the development of ROP [SMD (95% CI) of -.46 [-.63, -.30], p  < .001]. Meta-analysis suggests that higher serum glucose levels were associated with the development of ROP [SMD (95% CI) of 1.25 [.94, 1.55], p  < .001]. Meta-analysis suggests that thrombocytopenia is associated with the development of ROP [SMD (95% CI) of -.62 [-.86, -.37], p  < .001]., Conclusion: Low levels of serum IGF-1, high levels of serum glucose and thrombocytopenia all appear to have the strongest association with the development of ROP out of the 63 biomarkers investigated in this review. These associations highlight their potential use as diagnostic biomarkers in ROP, though further research is needed to establish the exact relationship between these biomarkers and disease pathogenesis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Almutairi, Chechalk, Deane, Fox, Janes, Maguire-Henry, McCabe, O'Connor, Quirk, Swan, White, McCreery, Isweisi, Stewart, Branagan, Roche, Meehan and Molloy.) more...

Background/aims: Cataract formation is common in uveitis and is visually more threatening in the paediatric cohort due to the risk of amblyopia. In addition, paediatric uveitis can often be difficult to manage. We report our experience with IOL placement in cataract surgery in the setting of paediatric uveitis., Methods: This non-comparative, retrospective interventional case series examined our cases of paediatric cataract occurring in patients with uveitis from 2003 to 2016. Parameters examined included visual acuity (VA), underlying diagnosis, immunosuppression status, intra-operative complications and requirement for further surgery., Results: In total, 10 eyes of seven patients were identified. The mean age at diagnosis of uveitis was 7.7 years (range 5.2-14 years) with onset of cataract at a mean of 29.3 months later (range 0-66 months). Three cases were bilateral and four cases were unilateral. Final visual outcomes were excellent with 80% showing improvement in VA achieving greater than 6/9.5 ( p  < 0.05). These patients had significant co-morbidities with concurrent glaucoma, band keratopathy and cystoid macular oedema. Uveitis was quiet for a minimum of 6 months in all cases prior to surgery with augmentation of immunosuppression pre-operatively as well as intra-operative local or intra-venous steroids. Tight post-operative care was necessary as 80% developed further flare-up of uveitis requiring increased immunosuppression and surgical interventions to manage their uveitis., Conclusion: Paediatric uveitis patients who develop cataract can have good visual outcomes with IOL insertion at the time of surgery when there is aggressive control of uveitis in the pre, peri and post-operative period. more...

Background: The Infant Aphakia Treatment Study (IATS) compared the treatment of unilateral cataract in infants aged 1-6 months with primary intraocular lens (IOL) implantation vs aphakia with contact lens (CL) correction., Aims: This study aims to assess the current trends in the treatment of unilateral congenital cataract in infants less than 6 months at surgery in the UK and Ireland., Methods: An anonymous survey was emailed to the 200 members of the BIPOSA mailing list with 14 questions to assess treatment choice (primary intraocular lens (IOL) vs aphakia with contact lens (CL)), reasons for this choice, and assessment of local CL services., Results: There were 56 respondents, 39 of whom completed the entire survey. Aphakia with CL was the treatment choice for 74.4% of respondents. A quarter (25.6%) of respondents said they were performing primary IOL implantation prior to the publication of the Infant Aphakia Treatment Study (IATS), but now choose aphakia with CL. Amongst the 20.5% (n = 8) of respondents who chose primary IOL implantation, 5 attributed their choice to "inadequate CL service". The majority (84.6%) of respondents rated their infant CL service as either "good" or "very good"., Conclusion: Aphakia with CL rehabilitation was the most common approach to the treatment of unilateral congenital cataract in infants less than 6 months in this study. The results of the IATS appear to have influenced a change in practice from primary IOL implantation to aphakia and CL visual rehabilitation in approximately one quarter of those surveyed. more...

Background: Screening examinations for retinopathy of prematurity (ROP) are performed routinely in the neonatal intensive care unit and are a recognised cause of pain in the newborn., Objectives: To determine the effect of instillation of topical anaesthetic eye drops compared with placebo or no treatment on pain in infants undergoing ROP screening., Search Strategy: We used the standard search strategy of the Cochrane Neonatal Review Group. This included a search of the Cochrane Neonatal Group register and the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library, Issue 10, 2010). We identified relevant studies by searching the following: (1) computerised bibliographic databases: MEDLINE (1966 to October 2010), EMBASE (1988 to October 2010) and Web of Science (1975 to March 2010; (2) the Oxford Database of Perinatal Trials. We searched electronically abstracts from PAS from 2000 to 2010 and handsearched abstracts from ESPR from 2000 to 2009., Selection Criteria: All randomised, or quasi-randomised controlled trials, or randomised cross-over trials., Data Collection and Analysis: We used the standard methods of the Cochrane Neonatal Review Group., Main Results: We identified two studies for inclusion. Both studies were randomised cross-over trials performed in single centres. Both studies used the Premature Infant Pain Profile (PIPP) score as a measure of pain response. Different methods of evaluating PIPP scores are presented including the absolute PIPP score, a PIPP score > 10 or > 12 and an increase in PIPP ≥ 4 from the baseline value. There is a nonsignificant reduction in pain scores at one minute and a nonsignificant increase at five minutes post insertion of the speculum. PIPP score > 12 at one minute resulted in a statistically significant reduction in the number of patients who experienced pain (typical risk ratio (RR) 0.56, 95% CI 0.36 to 0.89; typical risk difference (RD) -0.23, 95% CI -0.39 to -0.86; number needed to treat to benefit (NNTB) 4). When pain was defined as an increase in PIPP > 4 there was a statistically significant reduction in the absolute number of patients who experienced pain at one minute (typical RR 0.70, 95% CI 0.52 to 0.94; typical RD -0.19, 95% CI -0.34 to -0.04; NNTB 5.3)., Authors' Conclusions: The administration of topical proparacaine 30 seconds prior to the ophthalmological evaluation was associated with a reduction in pain scores especially at the time of speculum insertion. However, despite treatment, screening remains a painful procedure and the role of nonpharmacological and pharmacological intervention including different local anaesthetic agents should be ascertained in future randomised trials. more...

Purpose: To examine the ocular findings in mucopolysaccaridoses-1 (MPS-1) and the relationship between intraocular pressure (IOP) and central corneal thickness following bone marrow transplantation., Setting: clinical practice., Subjects: 23 subjects with MPS-1 following bone marrow transplantation were examined., Observation Procedures: age, sex, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, and central corneal thickness were assessed for each individual., Main Outcome Measure: correlation of central corneal thickness with intraocular pressure. Only the right eye was used in correlations., Results: Forty-six eyes of 23 subjects were examined. All subjects had been treated with successful bone marrow transplantation with mean follow-up of 8.5 years. Ages ranged from 17 months to 19 years (SD 5.03). Of the subjects, 60.8% were female; 85.5% were hyperopic; 8.6% had best-corrected visual acuity of >/=6/12; 34.5% had best-corrected visual acuity of <6/12 and >6/36 with 56.9% <6/36; 30% had strabismus. IOP ranged from 13 to 41 mm Hg with four children on antiglaucoma therapy. Central corneal thickness ranged from 484 microm to 705 microm and was moderately correlated with measured IOP in the right eye (r = 0.56). Corneal opacification moderately correlated with central corneal thickness (r = 0.57). Seventy percent had a normal disk evaluation; 30% had abnormal disk cupping., Conclusion: This is the first large case series of MPS-1 subjects demonstrating a correlation between measured IOP and central corneal thickness. All subjects had corneal opacification moderately correlating with corneal pachymetry. more...

An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence,(1) the radiological features in the condition being reported by Caffey.(2) The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3) Ocular findings range from uncomplicated nanophthalmos with hypermetropia to extreme pseudopapilloedema, vascular tortuosity, and macular crowding. Other reported ophthalmic findings include bilateral band keratopathy,(4) bilateral optic atrophy,(5) and myelinated nerve fibers.(6) We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT). more...

Purpose: To report the ocular complications in a series of patients with autoimmune polyendocrinopathy syndrome, type 1 (APS1)., Methods: A retrospective study of 17 patients with APS1 syndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination., Results: Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%)., Conclusions: The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This can result in progressive corneal scarring and vision loss. more...

Purpose: To analyze the conjunctival flora of individuals 21 years of age or less for fungi using polymerase chain reaction (PCR) methodology., Methods: Before povidone-iodine antisepsis, eye-swab specimens were collected from adolescent corneal donors preceding corneal excision and from children during preparation for strabismus surgery. Nucleic acid was extracted from the specimens and analyzed by PCR using primers designed for the detection of broad-spectrum fungal DNA and of Candida albicans-specific DNA., Results: Twelve (38%) of 32 eye donor surfaces and 7 (23%) of 30 patient samples were positive for fungal DNA (P = 0.1). C. albicans DNA was detected in 6 (19%) of the decedents' eyes but from none of the surgical patients (P = 0.04)., Conclusions: Fungi were present on the normal ocular surface of children and adolescents. C. albicans was more likely to be found postmortem than pre-surgically. more...

Introduction: Strabismus impacts a variety of psychosocial variables in both children and adults. Poor self-esteem, lack of confidence, altered interpersonal relationships, and difficulty with employment procurement have been reported. The purpose of this study was to determine the age at which children perceive strabismus in dolls and to evaluate their reactions., Methods: Three identical dolls were altered so that one was orthotropic, one esotropic, and one exotropic. Thirty-four naïve children between 3 and 7 years of age were individually placed in a waiting room with the 3 dolls as the only toys with which to play. A one-way mirror allowed a hidden observer to tabulate the number of positive and negative behaviors exhibited toward each doll. After a 10-minute observation period, the children were asked a short series of questions about their preferences and attitudes toward the dolls. Odds ratios were then determined for both the observed behaviors and the expressed responses to the strabismic dolls compared with the orthotropic dolls., Results: Children aged 5(3/4) years and older were 73 times more likely than younger children to express a negative feeling about the strabismic dolls when asked (P =.003). Additionally, when comparing the strabismic dolls with the orthotropic doll, children aged 3 to 4(1/4) years did not notice a difference, children aged 4(1/2) to 5(1/4) years tended to describe the eyes as "different," and children aged 5(3/4) years or older almost uniformly gave a negative description of the strabismic dolls., Conclusions: A negative attitude toward strabismus appears to emerge at approximately 6 years of age. The biopsychosocial determinants of dislike and hostility toward ocular deviations are apparently acquired, learned responses. more...

Incontinentia Pigmenti is a rare, X-linked, dominant disorder in which affected female infants develop characteristic abnormalities of the skin, central nervous system, hair, teeth, and eyes. Ocular abnormalities occur in about 35% of patients and consist of proliferative vitreoretinopathy, retinal detachment, strabismus, cataract, microphthalmia, optic nerve atrophy, and iris hypoplasia. Retinal vascular abnormalities, ranging from peripheral retinal avascularity to neovascular and fibrous proliferation with traction retinal detachment, are the primary cause of severe visual dysfunction in patients. Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. We report a case in which laser photocoagulation was used at the onset of retinopathy with subsequent resolution of the vasculopathy. more...

Purpose: To describe a new eye muscle surgical technique and its outcome in a small series of patients. METHODS AND STUDY: The Foster augmented rectus muscle transposition procedure, which utilizes posterior "lateral" fixation sutures [retroequatorial scleral myopexy parallel and adjacent to the lateral rectus muscle] to obtain greater effect from the transpositions, is modified, to preserve ciliary vessels, by doing only a partial 75-80% transposition of the rectus muscles, preserving and leaving behind a small portion of the muscle containing a ciliary vessel., Results: In five patients in whom preserving ciliary vessel supply was particularly important, the procedure produced results in improving binocular alignment and motility equal to that of the unmodified Foster augmented transposition. There were no complications or undesirable results., Conclusion: The modified ciliary vessel preserving procedure can be applied in most cases and may be especially useful in those where this is a high likelihood of additional eye muscle surgery being necessary in the future. more...

Objectives: We undertook this study to determine how frequently at-risk infants were scheduled for and brought to follow-up appointments for retinopathy of prematurity (ROP) examination after hospital discharge and to identify barriers to follow-up., Methods: The records of 126 infants with or at risk for ROP at the time of hospital discharge were retrospectively reviewed. Data recorded included the presence or absence of a timely outpatient follow-up appointment, the identity of the person who scheduled the appointment (hospital staff or parents), attendance rate for appointments made, race or ethnicity, and insurance status., Results: Sixty-two of 126 (49%) infants were scheduled for a timely outpatient examination. Sixty-four of 126 (51%) required telephone contact from our office to be scheduled for an appointment. Eight of 21 (38%) African American infants had an appointment scheduled without additional intervention by our office personnel, and 6 of 21 (29%) were brought to an appointment in a timely manner. Twenty-two of 33 (68%) white infants had an appointment scheduled without additional intervention by our office personnel, and 20 of 33 (61%) were brought to an appointment in a timely manner. African American patients were less likely than white patients to be brought to a follow-up appointment (P =.022). Eleven of 15 (73%) patients, whose appointments were scheduled by hospital personnel before discharge, were brought to their follow-up appointment, compared with 39 of 105 (37%) patients, whose parents were requested to schedule their own appointment (P =.008)., Conclusion: Almost 50% of infants with or at risk for ROP were not scheduled for a timely outpatient follow-up appointment, putting these neonates at risk for ROP-related blindness. Patients whose appointments were scheduled by hospital personnel before discharge were more likely to be brought to a follow-up examination. Extensive utilization of office support staff was required to ascertain the status of infants who did not have appointments scheduled or who were not brought to follow-up appointments. more...