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Optic nerve findings in CHILD syndrome
Robert M Knape1, Kunjal B Gandhi, Sanjeev Y Tuli
1Department of Ophthalmology, University of Florida College of Medicine, Gainesville, Florida, USA. rknape@ufl.edu
Journal of Pediatric Ophthalmology and Strabismus
|October 5, 2010
Summary
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare genetic disorder. This report details the first documented case of CHILD syndrome presenting with ocular manifestations, specifically progressive optic nerve atrophy.
Area of Science:
- Genetics
- Ophthalmology
- Dermatology
Background:
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare genetic disorder.
- It is characterized by unilateral defects affecting skin, musculoskeletal, and internal organs.
Observation:
- This study reports the first case of CHILD syndrome with ocular manifestations.
- The patient presented with progressive bilateral optic nerve atrophy.
Findings:
- Ocular involvement, including optic nerve atrophy, can be a feature of CHILD syndrome.
- This expands the known clinical spectrum of this rare disorder.
Implications:
- Highlights the importance of ophthalmological evaluation in patients diagnosed with CHILD syndrome.
- Suggests potential new avenues for research into the pathogenesis of CHILD syndrome and its associated complications.
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