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Congenital and inherited ophthalmologic abnormalities
Priyanka Arora1, Milind S Tullu, Mamta N Muranjan
1Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
Indian Journal of Pediatrics
|August 28, 2003
Summary
Over half of pediatric patients with genetic disorders show eye abnormalities. This study classifies these common ophthalmologic issues, aiding diagnosis and management in genetic conditions.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Ophthalmologic abnormalities are frequently observed in children with genetic disorders.
- Understanding the spectrum and frequency of these abnormalities is crucial for diagnosis and management.
Purpose of the Study:
- To identify genetic disorders linked to ophthalmologic abnormalities.
- To determine the types and frequency of eye issues in genetic conditions.
- To propose a classification system for these ophthalmologic abnormalities.
Main Methods:
- Prospective enrollment of pediatric cases with suspected genetic, metabolic, or developmental disorders.
- Detailed recording of clinical information, including comprehensive ophthalmologic examinations.
- Analysis of etiological groups, including chromosomal anomalies, inborn errors of metabolism, and Mendelian inheritance patterns.
Main Results:
- 51.9% of 1308 enrolled patients had ophthalmologic abnormalities.
- Chromosomal anomalies (e.g., Down syndrome) and inborn errors of metabolism (e.g., mucopolysaccharidoses, Wilson disease) were significant etiological groups.
- Positional and adnexal abnormalities were the most common types encountered, with a proposed anatomical classification.
Conclusions:
- Approximately 50% of pediatric patients evaluated in genetic services present with ophthalmologic abnormalities.
- Ocular manifestations are associated with a range of genetic conditions, including chromosomal abnormalities, metabolic disorders, and Mendelian syndromes.
- Anatomical classification highlights positional and adnexal abnormalities as the most prevalent.