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Lipemia retinalis in 1-month-old infant
Neha C Jain1, Jyothi Vanteri1, Parag K Shah1
1Department of Pediatric Retina and Ocular Oncology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore,Tamil Nadu, India.
Oman Journal of Ophthalmology
|March 17, 2017
Summary
This study reports a rare case of lipemia retinalis, an eye condition caused by familial lipase deficiency. This highlights a critical link between genetic lipid metabolism disorders and ocular manifestations.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- Lipemia retinalis is a rare ocular finding associated with severe hypertriglyceridemia.
- Familial lipase deficiency is a genetic disorder affecting lipid metabolism.
- Understanding the link between genetic conditions and ocular signs is crucial for early diagnosis.
Purpose of the Study:
- To present a rare case of lipemia retinalis.
- To investigate the underlying cause as familial lipase deficiency.
- To emphasize the importance of recognizing ocular manifestations in genetic metabolic disorders.
Main Methods:
- Case report detailing clinical presentation and ophthalmological examination.
- Genetic analysis to identify lipase deficiency.
- Review of relevant literature.
Main Results:
- The patient presented with characteristic signs of lipemia retinalis.
- Confirmed diagnosis of familial lipase deficiency as the cause.
- Demonstrated the direct correlation between the genetic disorder and the ocular findings.
Conclusions:
- Familial lipase deficiency can lead to severe hypertriglyceridemia and subsequent lipemia retinalis.
- Ophthalmological examination is vital for diagnosing metabolic disorders.
- Early identification and management of genetic lipid disorders can prevent severe complications.
