Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterised by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma and aniridia related keratopathy (ARK). Genotype-phenotype correlations have previously been described, however detailed longitudinal studies of aniridia are less commonly reported. We identified eighty-six patients from sixty-two unrelated families with molecularly confirmed heterozygous PAX6 variants from a United Kingdom (UK)-based single-centre ocular genetics service. They were categorised into mutation groups and retrospective review of baseline to most recent clinical characteristics (ocular and systemic) were recorded. One hundred and seventy-two eyes were evaluated, with a mean follow up period of 16.3 ± 12.7 years. Nystagmus was recorded in 87.2%, and foveal hypoplasia in 75%. Cataracts were diagnosed in 70.3%, glaucoma in 20.6% and ARK in 68.6% of eyes. Prevalence, age of diagnosis and surgical intervention varied amongst mutation groups. Overall, the missense mutation sub-group had the mildest phenotype, and surgically naïve eyes maintained better visual acuity. Systemic evaluation identified type 2 diabetes in 12.8%, which is twice the UK prevalence. This is the largest longitudinal study of aniridia in the United Kingdom, providing insights into prognostic indicators for patients and guiding clinical management of both ocular and systemic features.

Purpose: To describe risk factors, management and outcome of delayed Descemet membrane (DM) detachment following penetrating keratoplasty (PK) for keratoconus.Methods: We report seven eyes and combine this data with seven previous case reports identified by a search of PubMed.Results: DM detachment occurred at a median of 25 years (range, 7 to 33 years) following PK. One individual had bilateral detachments. There was typically mild ocular discomfort accompanied in some cases by a rapid onset of visual blur. Cases were often treated for allograft rejection before a DM detachment was suspected and confirmed by optical coherence tomography. Detachments were limited to the donor tissue in eleven eyes, but a DM break was identified at the time of onset in only two eyes. Thinning of the host corneal rim with ectasia was reported in eight eyes (57%). In three eyes the detachment resolved spontaneously, but in two eyes a detachment was still present at 12 months. Gas tamponade to reattach the DM was performed in nine eyes and was effective in five eyes.Five eyes had a repeat PK or endothelial keratoplasty. Histology showed fibroblastic proliferation on the stromal surface of the folded DM. Conclusion:The cause for DM detachment many years after PK is unknown, although progressive thinning of the host cornea and secondary graft ectasia may be implicated. Gas tamponade can be effective, but a repeat keratoplasty may be necessary. DM detachment should be included in the differential diagnosis for late onset corneal oedema after PK.

Background/Objectives: Strabismus surgery training has historically focussed on the "see one, do one and teach one" approach. Simulation training offers an alternative to practice surgical skills without direct patient involvement. However, current simulation models for strabismus surgery are limited due to concerns regarding use of animal or human tissue and financial cost limiting practice. Our aim was to build and validate a low-cost model for obtaining the core skills required in strabismus surgery. Subjects/Methods: A low cost strabismus model was developed using commercially available materials. Ophthalmic trainees, fellows and consultants were surveyed using a questionnaire to assess the realism and training utility of the model using a 5-point Likert scale (1 = unacceptable, 2 = poor, 3 = acceptable, 4 = favourable and 5 = excellent) whilst simulating a horizontal muscle resection task. Results: 42 ophthalmologists completed the questionnaire. The model scored highly for muscle securing (mean 4.29) and suturing (mean 4.24). Muscle dissection and conjunctiva were considered poor (mean 3.24, 2.42 respectively). Overall, participants felt the model simulated strabismus surgery well (mean 3.93) and was comparable to other dry simulation models (mean 3.91). Conclusion: Our study validates the training model, which can be used for independent practice of core strabismus surgical techniques. However, it remains a technical challenge to replicate certain ocular tissues using commercially available materials.

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We believe this to be the first report of coexisting polymerase chain reaction (PCR)-confirmed primary genital and ocular syphilis in a patient with penicillin allergy treated with doxycycline. The case examines the use of nonpenicillin and corticosteroid treatment of ocular syphilis and highlights the risk of eye involvement early in the disease process.