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Background/aims Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC aetiology and comorbidities is essential to providing patients with appropriate care. However, current management is unstandardised and molecular diagnostic rates remain low, particularly in those with unilateral presentation. To further understanding of clinical and genetic management of patients with MAC, we charted their real-world experience to ascertain optimal management pathways and yield from molecular analysis. Methods A prospective cohort study of consecutive patients with MAC referred to the ocular genetics service at Moorfields Eye Hospital between 2017-2020. Results Clinical analysis of 50 MAC patients (15 microphthalmia; 2 anophthalmia; 11 coloboma; and 22 mixed) from 44 unrelated families found 44% had additional ocular features (complex) and 34% had systemic involvement, most frequently intellectual/developmental delay (8/17). Molecular analysis of 39 families using targeted gene panels, whole genome sequencing and microarray comparative genomic hybridisation identified genetic causes in, 28% including novel variants in six known MAC genes (SOX2, KMT2D, MAB21L2, ALDH1A3, BCOR and FOXE3), and a molecular diagnostic rate of 33% for both bilateral and unilateral cohorts. New phenotypic associations were found for FOXE3 (bilateral sensorineural hearing loss) and MAB21L2 (unilateral microphthalmia). Conclusion This study highlights the importance of thorough clinical and molecular phenotyping of MAC patients to provide appropriate multidisciplinary care. Routine genetic testing for both unilateral and bilateral cases in the clinic may increase diagnostic rates in the future, helping elucidate genotype-phenotype correlations and informing genetic counselling. [ABSTRACT FROM AUTHOR]

Background/Aims Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients. Methods Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data. Results 89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as 'excellent' or 'good' in 90% of cases by physicians and 97% of cases by patients or guardians. Conclusion The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion. [ABSTRACT FROM AUTHOR]

Dupilumab blocks interleukin (IL)-4 and IL-13 and has demonstrated significant clinical benefit in eczema. Dupilumab-associated ocular-surface disease (DAOSD) has been described in adults but literature on the paediatric population is scarce. We conducted a retrospective review of electronic patient records of patients receiving dupilumab for eczema from April 2019 to July 2022. Outcome measures included incidence of DAOSD, patient/drug-related risk factors, ocular signs and symptoms, time to develop DAOSD, severity and treatments. Forty-six patients (median age 12 years, range 9–14) were identified; of these 12 (26%) developed DAOSD. Only one patient (8.3%) had pre-existing eye disease. The median time to DAOSD development was 3 (1–9) months. All patients were referred to ophthalmology, nine have been reviewed and three are awaiting appointments. All but one was symptomatic with ocular irritation (92%). In the nine patients reviewed by ophthalmology, ocular signs included bilateral bulbar conjunctival injection (n = 9, 100%), follicles (limbal or forniceal, n = 4, 44%), diffuse tarsal–conjunctival thickening (n = 3, 33%), cicatrization (n = 2, 22%). Four patients (44%) had moderate eye findings with peripheral corneal opacification; the symptoms were not always proportionate to the signs. The remaining five patients had mild ocular findings. Topical treatment for DAOSD included protopic to eyelid (n = 1), ciclosporin (n = 2), steroid (n  = 4), lubrication (n = 5) and chloramphenicol (n = 2). No patients stopped treatment because of DAOSD. DAOSD in this cohort was higher than that reported in RCTs with similar timeframe to DAOSD development. Almost half of our patient cohort had moderate DAOSD but were only mildly symptomatic. No DAOSD predictive factors were identified. [ABSTRACT FROM AUTHOR]

Blepharoplasty is amongst the more frequently performed aesthetic procedures with surgery performed by physicians and surgeons across a variety of sub-specialities. This paper, aimed at a dermatology audience, describes patient selection, eyelid anatomy, clinical examination and surgical steps to achieve successful upper and lower lid blepharoplasty outcomes. Recommendations for minimising complications are made and photographs used to illustrate important clinical and surgical features. [ABSTRACT FROM AUTHOR]

Purpose To review the long-term corneal complications after high-dose external beam orbital radiotherapy given to patients for lacrimal gland carcinomas. The impact of prophylactic measures to improve long-term ocular surface health is also assessed. Design Retrospective case series. Participants Patients under the care of Moorfields Eye Hospital and receiving external beam radiotherapy for primary epithelial lacrimal gland carcinoma between 1975 and 2014. Methods Retrospective review of ophthalmic case notes at Moorfields Eye Hospital, and oncology and general physician records. Main outcome measures The occurrence of corneal perforation, and time to perforation. Results Sixty-seven patients were included in this study, of whom nine (13%) developed corneal perforation at a median time of 10.4 months after radiotherapy (mean 35; range 3.2 months to 14.5 years); the majority (7/9; 78%) perforated within 36 months of radiotherapy. The mean follow-up interval of the whole cohort was 8.2 years (median 4.6; range, 2 months to 30.7 years). Conclusions Although most patients with globe-sparing treatment of lacrimal gland carcinoma did not suffer corneal perforation, they usually require long-term therapy to maintain the ocular surface. The high-dose external beam radiotherapy needed for lacrimal gland carcinoma can produce significant ocular surface morbidity, and the 13% incidence of corneal perforation was greatest in the first 3 years after irradiation. [ABSTRACT FROM AUTHOR]

Background: Atopic dermatitis (AD) is the most common inflammatory skin condition which affects all ages. New therapies, including the monoclonal antibody therapy dupilumab, offer excellent efficacy. However, in clinical trials, and emphasised in real-world observations, the unexpected increased frequency of ocular adverse effects became apparent. The effectiveness of dupilumab and the unpredictability of ocular adverse effects mean that clinicians need guidance on counselling patients prior to treatment and on managing them if they arise., Objectives: The British Association of Dermatologists (BAD) and Royal College of Ophthalmologists collaborated on this consensus guidance on managing dupilumab-related ocular surface disorders (DROSD)., Methods: A multidisciplinary group was formed of adult and paediatric dermatologists and ophthalmologists with DROSD expertise, patient representation, and BAD Clinical Standards Unit. A literature search was conducted, and the results reviewed. All recommendations were reviewed, discussed and voted on., Results: The recommendations pertain to dermatology and ophthalmology management, and apply to all ages, unless otherwise stated. Importantly, initiation of dupilumab for AD should not be delayed for most eye disorders except acute new problems, e.g. infections, or potentially severe conditions, e.g. a history of corneal transplant (ophthalmology advice should be sought first). There is insufficient evidence to recommend lubricant drops prophylactically. Dermatologists should assess eye complaints to diagnose DROSD; a severity grading system is provided. DROSD management differs slightly in those aged <7 years as ocular complications may affect neuro-ocular development; therefore, irrespective of DROSD severity, this population should be referred for ophthalmology advice. In those aged ≥7 years, dermatologists should feel confident to trial treatment and reserve ophthalmology advice for severe or non-responding cases. Discussion about dupilumab withdrawal should be prompted by a significant impact on quality of life, threat to sight, or other complications., Conclusions: Although dupilumab is a highly effective agent for treating AD, the risk of ocular adverse effects should not inhibit clinicians or patients from using it, but clinicians should be aware of them. If a patient develops DROSD, there are clear pathways to assess severity and offer initial management; where ineffective, dermatologists should assess the urgency and seek advice from or initiate referral to ophthalmology. While the evidence reviewed for these guidelines reflects the extensive literature on dupilumab, we believe our advice has relevance for ocular surface disorders in atopic dermatitis (AD) patients treated with tralokinumab and lebrikizumab., (© British Association of Dermatologists 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Objective: To evaluate optic nerve head morphology in children with craniosynostosis versus healthy controls., Design: Single-centre, prospective cohort study METHODS: Handheld optical coherence tomography (OCT) was performed in 110 eyes of 58 children (aged 0-13 years) with craniosynostosis. Inclusion criteria were as follows: normal intracranial pressure (ICP) on invasive overnight monitoring, or clinically stable ICP. The latter was defined as stable VA within 1 logMAR line and no papilloedema on fundoscopy for at least four months following OCT, and normal/stable visual evoked potentials. Control data for 218 eyes of 218 children were obtained from a published normative dataset. The main outcome measures were disc width, cup width, rim width and retinal nerve fibre layer (RNFL) thickness (nasal and temporal). Outcome measures were compared using three-way linear mixed model regression analysis (FGFR 1/2-associated craniosynostosis, non-FGFR 1/2-associated craniosynostosis, and controls)., Results: Out of 63 eligible children with craniosynostosis, handheld OCT imaging was successful in 110 eyes of 58 children (92%). Of these, 22 (38%) were female. Median subject age at OCT examination was 53 months (range: 2 to 157; IQR: 39 to 73). Twelve children (21%) had FGFR1/2-associated syndromes (Crouzon, n=6; Apert, n=4; Pfeiffer, n=2). Control data were available for 218 eyes of 218 healthy children. 122 controls (56%) were female. Median control age at OCT examination was 20 months (range: 0 to 163; IQR: 6 to 59). When comparing optic nerve head morphology in craniosynostosis (n=58) versus controls (n=218), disc width was 6% greater (p=0.001), temporal cup width was 13% smaller (p=0.027), rim width was 16% greater (p<0.001) and temporal RNFL was 11% smaller (p=0.027). When comparing FGFR1/2-associated syndromes (Crouzon, Apert and Pfeiffer syndromes, n=12) to the rest of the craniosynostosis group (n=46), disc width was 10% smaller (p=0.014) and temporal cup width was 38% smaller (p=0.044)., Conclusions: This cohort demonstrated morphological differences of the optic nerve head in craniosynostosis, most markedly in Crouzon, Apert and Pfeiffer syndromes. These findings could help improve ophthalmological monitoring and surgical decision-making in children with craniosynostosis. Further work on longitudinal optic nerve head changes in syndromic and non-syndromic craniosynostosis would be valuable., (Copyright © 2024. Published by Elsevier Inc.)

Background: Midface augmentation and orbital surgery carry an inherent risk of injury to the infraorbital vascular bundle, especially the infraorbital nerve where it exits the infraorbital foramen (IOF). This can result in significant morbidity for the patient, including paresthesia and neuralgia. Studies report significant heterogeneity in IOF position according to gender, ethnicity, and laterality. A knowledge of the relationship of the IOF to regional soft tissue, bony landmarks, and its variation among ethnicities is likely to reduce iatrogenic injuries., Methods: A single-center retrospective computed tomography (CT)-based study was conducted. Twenty Caucasians and 20 Black Africans patients were selected from an existing radiologic database at Moorfields Eye Hospital, London, UK. DICOM image viewing software (Syngo, Siemens Healthineers) was used to record the position of the IOF using standardized sagittal and axial views., Results: There was a statistically significant difference in the horizontal position of the IOF in the 2 races (P = 0.00). The combined measurements were used to derive a rectangular zone of variability measuring 14.30 mm by 10.60 mm. This zone was found to lie 3.50 mm below the infraorbital rim, 7.10 mm medial to the piriform aperture, and 11.60 mm from the lateral orbital rim., Conclusion: A sound knowledge of key facial landmarks is necessitated when performing midface augmentation and orbital surgery. An anatomical safe zone depicting the variation of the IOF will help reduce iatrogenic injury to the infraorbital nerve and prevent patient morbidity., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by Mutaz B. Habal, MD.)