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Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.
Suri Fatemeh, Yazdani Shahin, Narooie-Nejhad Mehrnaz, Zargar Seyed Jalal, Paylakhi Seyed Hassan, Zeinali Sirous et al.
OphthalmologyNov 200945 citationsCase Series
CYP1B1 mutations in congenital glaucoma show high penetrance and variable expression, often causing adult-onset glaucoma. Unaffected relatives with these mutations need regular eye exams for early diagnosis.