Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene

Purpose: To describe the incidence and type of ocular findings of 34 patien ts with Alport syndrome and to analyze the association of gene defect in CO L4A5 gene to ocular abnormalities found. Methods: A nationwide search of Alport syndrome patients was performed in F inland, and patients were invited to take part in a thorough ophthalmologic investigation. Results: A total of 34 Alport syndrome patients from 14 different pedigrees were examined, and ocular abnormalities were found in 32% of them. The vis ual acuities were normal except in 4 of the 34 patients. Six individuals ha d retinal flecks and 4 men had anterior lenticonus. In 57% of the pedigrees the defect in COL4A5 gene was known. Conclusion: Ocular abnormalities were rare in childhood and increased with age. There was no correlation between the type of mutation and the type of ocular changes. In addition, the penetrance of the ocular findings varied c onsiderably within most families.