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Updated: Feb 23, 2026
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Retinal Detachment Model in Rodents by Subretinal Injection of Sodium Hyaluronate
Published on: September 11, 2013
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Revesz syndrome masquerading as traumatic retinal detachment
Kareem Moussa1, James N Huang2, Anthony T Moore1
1Department of Ophthalmology, University of California, San Francisco.
Summary
A boy with hemophilia A developed aplastic anemia and Revesz syndrome due to a TINF2 mutation. Bone marrow transplant and retinal laser treatment stabilized his condition.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Hemophilia A can present with ocular complications.
- Rare genetic disorders can manifest with both hematologic and ophthalmologic findings.
Observation:
- A 13-month-old boy with hemophilia A presented with strabismus, retinal hemorrhages, and retinal detachment.
- Subsequent evaluation revealed pancytopenia, aplastic anemia, and short telomeres.
- Genetic testing identified a TINF2 mutation, diagnosing dyskeratosis congenita (Revesz syndrome variant).
Findings:
- The patient underwent successful bone marrow transplantation for aplastic anemia.
- Post-transplant, he exhibited persistent retinal hemorrhages, vessel sclerosis, and cotton wool spots.
- Peripheral retinal nonperfusion was noted, necessitating retinal laser treatment.
Implications:
- This case highlights the complex interplay between hemophilia A, aplastic anemia, and genetic disorders like Revesz syndrome.
- Early diagnosis and multidisciplinary management, including bone marrow transplantation and ophthalmologic interventions, are crucial.
- Understanding these associations can improve diagnostic pathways and patient outcomes in rare pediatric conditions.
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