Gamal Nouby1. 1. Opthalmology Department, Assiut University Medical College, Assiut, Egypt. gamalnouby@hotmail.com
Abstract
PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos. RESULTS: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities. CONCLUSION: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).
PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos. RESULTS: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities. CONCLUSION: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).
Authors: Jared Nathanson; Daniel T Swarr; Amihood Singer; Mochi Liu; Amy Chinn; Wendy Jones; Jane Hurst; Nahla Khalek; Elaine Zackai; Anne Slavotinek Journal: Am J Med Genet A Date: 2013-02-08 Impact factor: 2.802