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Congenital upper eyelid coloboma and cryptophthalmos
1Opthalmology Department, Assiut University Medical College, Assiut, Egypt. gamalnouby@hotmail.com
Insights
Congenital upper eyelid coloboma and cryptophthalmos are related anomalies, often presenting with facial deformities. A new grading system is proposed to classify these conditions, aiding in diagnosis and management.
Area of Science:
- Ophthalmology
- Medical Genetics
- Pediatric Surgery
Background:
- Congenital upper eyelid coloboma and cryptophthalmos are rare developmental anomalies.
- Understanding their relationship is crucial for accurate diagnosis and treatment planning.
Purpose of the Study:
- To investigate the association between congenital upper eyelid coloboma and cryptophthalmos.
- To introduce a novel grading system for these related conditions.
Main Methods:
- An observational case series study was conducted.
- Twenty-six children with eyelid coloboma, cryptophthalmos, or both were analyzed.
- Patient data included age, clinical presentation, and associated anomalies.
Main Results:
- Upper eyelid coloboma was observed in 19 cases, with 11 associated with facial deformities and 3 with first arch syndrome.
- Four cases of classic cryptophthalmos were sporadic and nonsyndromic.
- Patients with coloboma and facial deformities, cryptophthalmos, or both shared similar facial abnormalities.
Conclusions:
- Congenital upper eyelid coloboma with facial deformities and cryptophthalmos can be viewed as a single spectrum of anomaly.
- A new 5-grade classification system is proposed for these conditions, ranging from isolated coloboma to severe cryptophthalmos with significant facial deformities.
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).