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BILATERAL GIANT RETINAL TEAR DETACHMENTS IN AN INFANT WITH DONNAI-BARROW SYNDROME: A CASE REPORT AND REVIEW OF
Alan Y Huang1, Sonny Caplash2, Drew Scoles2,3
1Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Insights
This case study details a rare instance of bilateral giant retinal tear (GRT) retinal detachments in a child with Donnai-Barrow syndrome (DBS). Early, aggressive surgical intervention is crucial for managing this complex condition in DBS patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Donnai-Barrow syndrome (DBS) is a rare genetic disorder.
- Ocular complications, including retinal detachment, are significant concerns in DBS patients.
- Giant retinal tears (GRT) are a severe form of retinal detachment.
Purpose of the Study:
- To report a rare case of bilateral GRT-related retinal detachments in a 24-month-old male with DBS.
- To review the literature on ocular manifestations in Donnai-Barrow syndrome.
Main Methods:
- Case report of a pediatric patient with DBS and bilateral retinal detachments.
- Ophthalmic examination and surgical management details.
- Comprehensive literature review of DBS cases with retinal detachments.
Main Results:
- A 24-month-old male with DBS presented with sudden bilateral vision loss.
- Bilateral retinal detachments with GRT and proliferative vitreoretinopathy were diagnosed.
- Surgical interventions were complex, with initial re-detachment requiring repeat procedures.
- Literature review identified retinal detachments in 26.3% of DBS patients over 1 year old.
Conclusions:
- Giant retinal tear-related retinal detachments can present early and complexly in DBS.
- Aggressive and timely management, potentially including prophylactic measures, is vital for visual outcomes.
- This case underscores the importance of vigilant ophthalmic monitoring in patients with Donnai-Barrow syndrome.
Purpose:
The objective of this study was to report a rare case of bilateral giant retinal tear-related retinal detachments in a 24-month-old man with Donnai-Barrow syndrome (DBS) and to review the current literature on this disorder.
Methods:
Clinical information was obtained from the medical records of a patient with DBS seen at the Children's Hospital of Philadelphia. A literature review was conducted to identify all published cases of genetically or clinically diagnosed DBS.
Results:
We report a case of a 24-month-old man with a history of DBS presenting with sudden loss of vision in both eyes. Ophthalmic examination revealed bilateral retinal detachments with giant retinal tears, complicated by grade C proliferative vitreoretinopathy in the right eye. The patient underwent sequential scleral buckling, pars plana vitrectomy, membrane peeling, perfluoron, endolaser, fluid-air exchange, and silicone oil placement in both eyes. Both eyes developed redetachment, requiring repeat pars plana vitrectomy. Literature review revealed 10 reported cases of retinal detachments out of 38 patients with DBS who survived past 1 year (26.3%).
Conclusion:
This case highlights the early presentation and complexity of giant retinal tear-related retinal detachment in patients with DBS. Early, aggressive management using prophylactic laser retinopexy or scleral buckling may be essential in improving visual outcomes in patients with DBS.
