Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype–phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.

Sebaceous gland carcinoma (SGC) is a rare, but life-threatening condition with a predilection for the periocular region. Eyelid SGC can be broadly categorised into two subtypes, namely either nodular or pagetoid with the latter being more aggressive and requiring radical excision to save life. We have identified key altered microRNAs (miRNA) involved in SGC shared by both subtypes, hsa-miR-34a-5p and hsa-miR-16-5p. However, their gene targetsBCL2andMYCwere differentially expressed with both overexpressed in pagetoid but unchanged in nodular suggesting different modes of action of these two miRNAs onBCL/MYCexpression. Hsa-miR-150p is nodular-specifically overexpressed, and its targetZEB1was significantly downregulated in nodular SGC suggesting a tumour suppressor role. Invasive pagetoid subtype demonstrated specific overexpression of hsa-miR-205 and downregulation of hsa-miR-199a. Correspondingly, miRNA gene targets,EZH2(by hsa-miR-205) andCD44(by hsa-miR-199a), were both overexpressed in pagetoid SGC. CD44 has been identified as a potential cancer stem cell marker in head and neck squamous cell carcinoma and its overexpression in pagetoid cells represents a novel treatment target. Aberrant miRNAs and their gene targets have been identified in both SGC subtypes, paving the way for better molecular understanding of these tumours and identifying new treatment targets.

Sebaceous carcinoma (SC) is a clinical masquerader of benign conditions resulting in significant eye morbidity, sometimes leading to extensive surgical treatment including exenteration, and even mortality. Little is known about the genetic or molecular basis of SC. This study identifies the involvement of Hedgehog (Hh) signaling in periocular SC.

The CRB1 gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in CRB1 retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. Its role in foveal development has not yet been described; however, this retrospective study is the first to report foveal hypoplasia (FH) presence in a CRB1-related retinopathy cohort. Patients with pathogenic biallelic CRB1 variants from Moorfields Eye Hospital, London, UK, were collected. Demographic, clinical data and SD-OCT analyses with FH structural grading were performed. A total of 15 (48%) patients had EOSRD/LCA, 11 (35%) MD, 3 (9%) CORD and 2 (6%) RP. FH was observed in 20 (65%; CI: 0.47–0.79) patients, all of whom were grade 1. A significant difference in BCVA between patients with FH and without was found (p = 0.014). BCVA continued to worsen over time in both groups (p < 0.001), irrespective of FH. This study reports FH in a CRB1 cohort, supporting the role of CRB1 in foveal development. FH was associated with poorer BCVA and abnormal retinal morphology. Nonetheless, its presence did not alter the disease progression.

Objectives To provide evidence for long-term outcomes for margin-controlled excision of eyelid melanoma. Methods Retrospective single-centre observational case series of patients treated for eyelid melanoma between 2007 and 2016, with a minimum of 5-year follow-up. Tumour excision involved rush-paraffin en face horizontal sections and delayed repair (Slow Mohs; SM). Results Twenty-two cases were seen with a survival of 91% (two deaths from nodular and lentigo maligna melanoma) and seven with melanoma in situ (MIS). Invasive melanoma includes eight lentigo maligna melanoma, four nodular, two amelanotic and one desmoplastic. Mean Breslow thickness was 6 mm for invasive (range 0.5–26). Mean excision margin for MIS was 3 mm (range 2–5 mm) and for invasive was 5 mm (range 2–10). Further excisions were performed in nine (41%); two went on to recur. Local recurrence was 36%; six invasive (27%) at a mean of 24 months (range 1.5–5 years) and two for MIS at a mean of 15 months (range 1–1.5 years). Imaging occurred for suspected advanced disease. Sentinel node biopsy was not performed. Advanced melanoma therapy was performed in two cases. No vitamin D testing occurred. Conclusions Survival rates are in line with 90% overall survival in the UK. Prescriptive excision margins are not applicable in the periocular region and margin-controlled excision with a delayed repair is recommended, but patients need to know further excision may be needed to obtain clearance. Evidence recommending vitamin D therapy needs to be put into clinical practice. In addition, upstaging of MIS occurred advocating excision rather than observation of MIS. More studies are needed to determine the best management of eyelid melanoma.

Purpose: To report the occurrence of dry eye after Lester Jones tube (LJT) insertion. Methods: Retrospective case series from a single unit. The dacrocystorhinostomy (DCR) was carried out using both endoscopic and external approachs; however, insertion of LJT used the same method as either a primary or secondary procedure. Dry eye as an outcome measure was only confirmed after three separate visits using the presence of both patient symptoms and dry eye signs with none preceding tube insertion. Results: Fifty-four patients underwent consecutive LJT insertion over a 5-year period. Mean age was 52.6 (range 25-73 years). The majority were female 39 (72%). Revision surgery was required in 15 (27%) with 3 or more occurring in 6 (11%). In total, 9 patients developed dry eyes (17%). Mean age was 60 (range 47-73) years, 5 females and 4 males. Four of the dry eye individuals had undergone primary LJT insertion and the remaining five received their first LJT 6-24 (mean 15) months post-DCR. Two dry eye patients had previously undergone LASIK and radiotherapy. Conclusion: A risk of dry eye following LJT placement is higher than the literature suggests. This should be considered and counseled, especially in those who have underlying pre-disposing factors. Ease of removal may be a desirable attribute in such cases.