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Elias I. Traboulsi

Cleveland Clinic
Johns Hopkins University

447

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Novel clinical presentation of a CRX rod-cone dystrophy.

2021 Case Reports
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Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases

2021 JAMA Ophthalmology
- Elias I. Traboulsi
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Visual field and Visual Acuity changes in the Natural History of Choroideremia

2021 Investigative Ophthalmology & Visual Science
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Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability

2020 Documenta Ophthalmologica
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Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature

2020 Ophthalmic Genetics
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Mutations in BBS2 cause apparent nonsyndromic retinitis pigmentosa

2020
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Best Practices for Building and Supporting Effective ACGME-Mandated Program Evaluation Committees

2020
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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

2020 Investigative Ophthalmology & Visual Science
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Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.

2020 Ophthalmic Genetics
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Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors

2020 Ophthalmic Genetics
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