Abstract
Purpose :
To report the clinical assessment results of patients with congenital aniridia-associated keratopathy (AAK) in a tertiary referral centre in the UK.
Methods :
We conducted a prospective clinical assessment of aniridia patients that were previously referred to the Cornea Service, at the Royal Victoria Infirmary, Newcastle upon Tyne, UK. Ophthalmic examination included demographics, BCVA, AAK stage, tear film metrics (osmolarity, TBUT, Schirmer’s), corneal sensation, IVCM (e.g., limbal stem cell deficiency [LSCD] and nerve plexus status), OSDI questionnaire, genetic screening and treatment details.
Results :
Eighteen patients (M:F ratio 9:9) were included with a mean age of 37.5 years (SD 20.9, range 8-85). Most common AAK stage was stage II 38.8% (n=14), while stage I was observed in 16.6% (n=6), stage III in 22.2% (n=8), stage IV in 13.8% (n=5) and stage V in 8.3% (n=3). BCVA was less than 6/60 Snellen in 79% of cases (n=15). Only 3 eyes had a BCVA of 6/36, having AAK scores I-III. Mean IOP was 14.36mmHg (SD 6.1, range 5-39), with 50% (n=9) using IOP-lowering drugs. Ten eyes were pseudophakic (31.25%), 20 had lens opacities (62.5%), 2 were aphakic (6.25%), and 2 could not be assessed (6.25%). Notably, 94.4% (n=17) had bilateral nystagmus.
Corneal aesthesiometry mean central value was 37.4mm (SD 21.37; range 5-60), slightly lower in other quadrants. Schirmer’s test had a mean of 12.04mm (SD 8.8, range 0-40), while osmolarity averaged 302.7mOsm/L (SD 14.41, range 275-345). Mean corneal pachymetry measured 670.3µm (SD 106.1, range 416-952). The OSDI averaged a high score of 68.07 (SD 26.48, range 11.4-100).
No significant statistical correlation was found between the stage of AAK and tear osmolarity, OSDI score, or corneal sensation. LSCD was assessed through delayed staining, IVCM and impression cytology. Three patients had evidence of total LSCD by clinical examination, while others had only partial LSCD. Of note, 62.6% used topical steroids, and 31.25% utilized blood-derived eyedrops (i.e., autologous/allogeneic). All patients used various eye lubricants.
Conclusions :
All aniridia patients included in this audit suffer from AAK, the majority with poor visual acuity, 40% with severe AAK stages, and all had varying degrees of LSCD. A comprehensive overview of AAK characteristics and staging, including IVCM analysis and biological insights may lead to improved individualized management.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.