Bilateral Chorioretinal Scars in a Child - Case Report.

Area of Science:

• Ophthalmology
• Pediatric Infectious Diseases
• Medical Genetics

Background:

• Intrauterine infections frequently cause ocular abnormalities, most commonly chorioretinal scars or active chorioretinitis.
• When ocular findings are isolated, determining the causative agent and timing of congenital infection can be challenging.
• Systemic signs often aid diagnosis, but isolated ocular manifestations present diagnostic difficulties.

Purpose of the Study:

• To present a case of unusual choroidoretinopathy and cataract in an 8-year-old child.
• To highlight the diagnostic challenges in cases of isolated ocular findings potentially related to intrauterine infections.
• To emphasize the importance of comprehensive evaluation and follow-up in such pediatric cases.

Main Methods:

• Case report of an 8-year-old female patient with fundus lesions and cataract.
• Review of medical history and general examination.
• Extensive laboratory testing including serological tests for various pathogens (HIV, hepatitis B/C, Toxoplasma, Toxocara, Borrelia, CMV, Epstein-Barr virus), complete blood count, ESR, fibrinogen, CRP, and plasma ornithine levels.

Main Results:

• The patient presented with unusual choroidoretinopathy and cataract in one eye.
• Extensive infectious workup and metabolic screening (ornithine levels) were negative.
• No clear etiological agent or timing of infection could be determined from the clinical presentation, history, or blood tests.

Conclusions:

• Ocular manifestations of intrauterine infections can be diverse and diagnostically challenging, especially when isolated.
• Despite thorough investigation, the etiology of chorioretinal lesions in this pediatric case remained uncertain.
• A comprehensive baseline evaluation and regular follow-up are crucial for managing and monitoring such cases.