Abstract
Purpose :
The aim of this study is to provide a clinicopathological correlation for these corneal stromal dystrophies in a large cohort of patients.
Methods :
This analysis was done on 57 cases of corneal stromal dystrophy obtained between the years 1994 and 2022 from the MUHC-McGill University Ocular Pathology & Translational Research Laboratory. Clinical and pathological diagnosis as well as demographic information pertaining to the age at the time of diagnosis, sex, and location were collected when available. Histopathological stains used for the diagnosis include H&E, PAS and Congo Red for LCD and ACD, Alcian blue for MCD, and Masson Trichrome for GCD and ACD.
Results :
Of the 57 patients, 49% (n = 29) were pathologically diagnosed as LCD, 28% (n = 15) were ACD, 14% (n = 8) were GCD, and 9% (n = 5) were MCD. The average age for LCD, ACD, GCD, and MCD was 59, 62, 54, and 41 years old respectively. There was no sex predilection for LCD, ACD, and GCD, however MCD was more common in men than women (n = 4/5). In terms of diagnosis 100% (n = 5) of the MCD cases were correctly diagnosed clinically, 93% (n = 27/29) were correctly diagnosed for LCD, and 63% (n = 5/8) were correctly diagnosed for GCD. In the case of ACD, none were clinically diagnosed, instead 47% (n = 7/15) were thought to be LCD, 47% (n = 7/15) were diagnosed as an unspecified dystrophy, and 7% (n = 1/15) were thought to be GCD.
Conclusions :
To the best of our knowledge this is the largest clinicopathological study of patients with corneal stromal dystrophies. The most prevalent was LCD, followed by ACD and GCD. MCD was, as expected, the least prevalent dystrophy, being the only one that is recessively inherited. ACD or combined corneal dystrophy is the combination of LCD and GCD, therefore it is most often mistaken for one of those types. The histopathological diagnosis is essential for the final diagnosis of these particular lesions. Epidemiological studies aiming to determine the frequency of corneal stromal dystrophy should be based on the final histopathological diagnosis.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.