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.

ROP screening is a necessary but recognised painful procedure. Sucrose combined with NNS and swaddling reduced the behavioural and physiological pain responses. However, pain scores remained consistently high and appropriate pain relief for ROP screening remains a challenge.

Aims-To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. Methods-A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. Results-181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic EB; nine patients (5%) with dystrophic EB whose inheritance could not be ascertained; and seven cases (4%) of EB that could not be classified. Ocular problems were found in 12% (n=6) of simplex patients and 40% (n=6) of those with junctional disease. One patient (of 28) in the autosomal dominant dystrophic group had ocular involvement and 51% (37/72) of patients in the autosomal recessive dystrophic group had ophthalmic complications: corneal (25/ 72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). Conclusion-Ophthalmic complications are common in EB overall but the incidence varies widely with subtype. Ophthalmic complications are the most severe in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubricants. (Br J Ophthalmol 1999;83:323-326) Epidermolysis bullosa (EB) is a term for a group of conditions associated with abnormalities of the basement membrane zone of skin and mucous membranes. Most frequently it is genetically determined and congenital although there is an acquired variety. The characteristic features are skin and mucosal fragility starting during infancy with a tendency to blister after even minor trauma. The involvement of the eye with conjunctival and corneal blistering can lead to progressive scarring with reduced vision and even blindness.

APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

No abstract

Aneurysmal bone cyst is a benign fibro osseous lesion which rarely occurs in the orbit.We report on a 7-year-old girl with aneurysmal bone cyst of the orbit who presented with painless proptosis and diplopia. Optic nerve compression resulted in field loss and delayed visual evoked potentials. Radiological and histological features are discussed. The lesion was excised via a frontal craniotomy and the orbital roof reconstructed with a prefabricated titanium plate. Post-operatively a rapid resolution of the proptosis and diplopia followed. Previous reported cases of this rare entity in the orbit are also reviewed.

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.

We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative.Furthermore the siblings were tall and did not have the typical phenotype of nystagmus, photophobia, obesity or hearing loss and so the AS diagnosis was removed. We then sought to identify the causative gene in this family using whole exome sequencing. Unexpectedly, the exome analysis identified novel compound heterozygous ALMS1 mutations in exon 5