Purpose: Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of the cytosine-thymine-guanine (CTG) n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype. Methods: Blood samples were collected from 85 FECD cases at different stages. Short tandem repeat PCR and triplet repeat-primed PCR were applied in order to determine TCF4 (CTG) n genotype. Results: A (CTG) n repeat expansion (n > 50) in TCF4 was identified in 76 of 85 FECD cases (89.4%) and in four of 102 controls (3.9%). The median (CTG) n repeat length was 81 (IQR 39.3) in mild FECD and 87 (IQR 13.0) in severe FECD (p = 0.01). A higher number of (CTG) n repeats in an expanded TCF4 allele increased the probability of severe FECD. Other ocular surgery was overrepresented in FECD cases without a (CTG) n repeat expansion (44.4%, n = 4) compared with 3.9% (n = 3) in FECD cases with an (CTG) n repeat expansion (p < 0.001). Conclusion:In northern Sweden, the FECD phenotype is associated with (CTG) n expansion in the TCF4 gene, with nearly 90% of patients being heteroor homozygous for (CTG) n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4.

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Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral disease of the cornea caused by gradual loss of corneal endothelial cells. Late-onset FECD is strongly associated with the CTG18.1 trinucleotide repeat expansion in the Transcription Factor 4 gene (TCF4), which forms RNA nuclear foci in corneal endothelial cells. To date, 46 RefSeq transcripts of TCF4 are annotated by the National Center of Biotechnology information (NCBI), however the effect of the CTG18.1 expansion on expression of alternative TCF4 transcripts is not completely understood. To investigate this, we used droplet digital PCR for quantification of TCF4 transcripts spanning over the CTG18.1 and transcripts with transcription start sites immediately downstream of the CTG18.1. TCF4 expression was analysed in corneal endothelium and in whole blood of FECD patients with and without CTG18.1 expansion, in non-FECD controls without CTG18.1 expansion, and in five additional control tissues. Subtle changes in transcription levels in groups of TCF4 transcripts were detected. In corneal endothelium, we found a lower fraction of transcripts spanning over the CTG18.1 tract compared to all other tissues investigated.

Purpose: To study the risk for corneal transplantation after phacoemulsification with dense cataract or posterior capsule rupture (PCR) and the impact of corneal guttata. Setting: Forty-nine Swedish cataract surgical units and 8 Swedish cornea transplantation units. Design: Registry-based cohort study. Methods: Patient data from the Swedish National Cataract Registry (2010 to 2012) were linked with data from the Swedish Cornea Transplant Registry (2010 to 2017). The outcome measures were risk for future corneal transplantation, visual acuity, and self-assessed visual function after phacoemulsification. Logistic and Poisson regression analyses with adjustment for confounder effects were used to investigate the association of the outcome measures with dense cataract, indicated by trypan blue capsular staining (TB) and PCR, separately and together. Results: Altogether, data from 276 362 cataract patients were linked with data from 2091 patients with endothelial failure who underwent corneal transplantation.The risk for future corneal transplantation increased more than 3-fold with the presence of dense cataract or PCR, and a trend toward an ever-higher risk with the combination of TB and PCR together, but without any significant synergy of corneal guttata. Dense cataract, but not PCR, was significantly associated with an increased probability of inferior visual acuity after phacoemulsification. The impact on satisfaction was not statistically significant for any of the factors. Conclusions: Challenging cataract surgery increases the risk for future corneal transplantation equally in patients both with and without corneal guttata, despite a more vulnerable endothelium in the guttata group. This supports a strategy where PCR is limited and handled optimally and that cataract surgery is performed before the cataract turns critically dense.

The present review summarizes data collected by the Swedish National Cataract Register (NCR), which by the end of 2021 contained data for more than 2.4 million cataract surgeries between 1992 and 2021. During these 30 years, the cataract surgery rate rose from 3700 to 12 800. The coverage of NCR is very high including 93% of all cataract procedures in Sweden between 2010 and 2021. Independently of demographic changes, the proportion of operations of patients age 60 to 79 has increased while the proportion of 80 to 90+ has decreased. The median visual acuity of the first eye planned for surgery was 0.1 decimal in 1992 and has increased to 0.5 decimal in 2021. Patient-reported outcome measures have been registered with the Catquest-9SF questionnaire since 2008, demonstrating intervention at an earlier stage, but consistently favorable outcomes. Surgical complications have decreased; endophthalmitis has decreased from 0.10% to below 0.02%, and posterior capsule rupture from 2.8% to 0.6%.

Aniridia-related keratopathy (ARK) is a sightthreatening, painful, chronic progressive keratopathy present in aniridia, a congenital autosomal dominant disease caused by haploinsufficiency of the Pax6 transcription factor (Lee et al., 2008). ARK is characterized by the presence of a disturbed limbal stem cell niche, altered corneal epithelial differentiation pathways