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Cryptophthalmos: associated syndromes and genetic disorders
Daphna Landau-Prat1,2,3,4,5, Diana H Kim1,2, Sana Bautista1,2
1Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ophthalmic Genetics
|July 26, 2023
Summary
Cryptophthalmos, a rare congenital eyelid anomaly, is often linked to genetic syndromes. This study identified genetic diagnoses in 77% of patients, highlighting Fraser syndrome and a potential link with CELSR2 variants.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Cryptophthalmos is a rare congenital condition characterized by anomalous eyelid development, where eyelids fail to form or separate.
- It can manifest unilaterally or bilaterally and may occur independently or as part of a broader genetic syndrome.
Purpose of the Study:
- To identify and characterize genetic syndromes associated with cryptophthalmos.
- To aid in the genetic diagnosis of patients with this rare condition.
Main Methods:
- A retrospective review of medical records for patients diagnosed with cryptophthalmos between 2000 and 2020.
- Analysis included patient history, clinical findings, and genetic testing results.
Main Results:
- Thirteen patients were analyzed; 77% were male, with a mean age of 2.4 years.
- Eight patients (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos.
- Genetic diagnoses were identified in 77% of cases, including Fraser syndrome (5 cases), amniotic band syndrome (1 case), FREM1-related disease (1 case), Goldenhar-Schimmelpenning syndrome (1 case), MOTA syndrome (1 case), and CELSR2-related disease (1 case).
Conclusions:
- This study reports a potential association between cryptophthalmos and biallelic CELSR2 variants.
- Comprehensive genetic evaluation is recommended for children with cryptophthalmos, particularly those with extra-ocular manifestations.
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