Abstract
Purpose:
To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).
Methods:
A case report.
Results:
An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.
Conclusions:
Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.
Keywords:
CRB1; retinal capillaritis; retinal dystrophy; retinitis pigmentosa; uveitis.
MeSH terms
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Capillaries / pathology
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Child
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Eye Diseases / diagnosis
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Eye Proteins / genetics*
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Fluorescein Angiography
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Glucocorticoids / therapeutic use
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Humans
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Macular Edema / diagnosis
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Male
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Membrane Proteins / genetics*
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Methylprednisolone / therapeutic use
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Nerve Tissue Proteins / genetics*
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Pulse Therapy, Drug
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Retinal Dystrophies / diagnosis
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Retinal Dystrophies / genetics*
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Retinal Vasculitis / diagnosis*
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Retinal Vessels / pathology
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Tomography, Optical Coherence
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Uveitis, Intermediate / diagnosis
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Vitreous Body / pathology
Substances
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CRB1 protein, human
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Eye Proteins
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Glucocorticoids
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Membrane Proteins
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Nerve Tissue Proteins
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Methylprednisolone