Purpose Keratoconus affects all races, yet very little infonnation exists as to the relative frequency in patients of different ethnic origin. We aimed to establish the incidence and severity of keratoconus in Asian and white patients.Methods The hospital records of the ophthalmology department of a large Midlands hospital with a catchment population of approximately 900 000 (87% white, 11% Asian, 2% other) were examined retrospectively for the 10 year period from 1989 to 1998.Results For the age group 10--44 years the prevalence of keratoconus in Asians and whites was 229 and 57 per 100 000 respectively, a relative prevalence of 4 to 1. The incidence of keratoconus in the same age group was 19.6 and 4.5 per 100 000 per year respectively, a relative incidence of 4.4 to 1. Asians were significantly younger at presentation compared with whites (mean 22.3 ± 6.5 vs 26.5 ± 8.5 years, p < 0.0001). A first corneal graft was carried out on 14% of the Asian and 15% of the white patients. Of those having grafts, Asians were significantly younger than white patients at the time of diagnosis (mean 19.1 ± 4.8 vs 25.7 ± 7.3 years, p = 0.005) and at operation (mean 21.4 ± 5.0 vs 28.7 ± 7.7 years, p = 0.004). The interval from diagnosis to operation, though shorter for Asians, was not significantly different (mean 1.8 ± 1.4 vs 2.5 ± 1.7 years, p = 0.2). ConclusionThe results show previously unrecognised racial differences in the hospital presentation of keratoconus in the UK.Compared with white patients, Asians have a fourfold increase in incidence, are younger at presentation and require corneal grafting at an earlier age.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

The findings suggest that nystagmus is more common in the general population than previously thought. This may be of significance in resource allocation and health care planning.

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

Background: To characterise and compare ocular pathologies presenting to an emergency eye department (EED) during the COVID-19 pandemic in 2020 against an equivalent period in 2019. Methods: Electronic patient records of 852 patients in 2020 and 1818 patients in 2019, attending the EED at a tertiary eye centre (University Hospitals of Leicester, UK) were analysed. Data was extracted over a 31-day period during: (study period 1 (SP1)) COVID-19 pandemic lockdown in UK (24th March 2020–23rd April 2020) and (study period 2 (SP2)) the equivalent 2019 period (24th March 2019–23rd April 2019). Results: A 53% reduction in EED attendance was noted during lockdown. The top three pathologies accounting for >30% of the caseload were trauma-related, keratitis and uveitis in SP1 in comparison to conjunctivitis, trauma-related and blepharitis in SP2. The overall number of retinal tears and retinal detachments (RD) were lower in SP1, the proportion of macula-off RD’s (84.6%) was significantly ( p = 0.0099) higher in SP1 (vs 42.9% in SP2). Conclusion: COVID-19 pandemic related lockdown has had a significant impact on the range of presenting conditions to the EED. Measures to stop spread of COVID-19 such as awareness of hand hygiene practices, social distancing measures and school closures could have an indirect role in reducing spread of infective conjunctivitis. The higher proportion of macula-off RD and lower number of retinal tears raises possibility of delayed presentation in these cases. Going forward, we anticipate additional pressures on EED and other subspecialty services due to complications and associated morbidity from delayed presentations.