Mireille Jabroun

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Scholarly Contributions

Chapters

• Jabroun, M. (2023). Chapter-23 Complex Forms of Strabismus. In Clinical Pediatric Ophthalmology and Strabismus(p. 22). doi:10.5005/jp/books/18553_24

Journals/Publications

• Bodamer, O. A., Brightman, D., Fulton, A., Jabroun, M., Shah, S. S., & Simpson, B. N. (2023).

  Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome

  . American Journal of Medical Genetics Part A, 191(5), 1325-1338. doi:10.1002/ajmg.a.63155
• Shah, S. S., Fulton, A., Jabroun, M., Brightman, D., Simpson, B. N., & Bodamer, O. A. (2023). Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. American journal of medical genetics. Part A, 191(5), 1325-1338.
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  We aim to assess if genotype-phenotype correlations are present within ocular manifestations of Kabuki syndrome (KS) among a large multicenter cohort. We conducted a retrospective, medical record review including clinical history and comprehensive ophthalmological examinations of a total of 47 individuals with molecularly confirmed KS and ocular manifestations at Boston Children's Hospital and Cincinnati Children's Hospital Medical Center. We assessed information regarding ocular structural, functional, and adnexal elements as well as pertinent associated phenotypic features associated with KS. For both type 1 KS (KS1) and type 2 KS (KS2), we observed more severe eye pathology in nonsense variants towards the C-terminus of each gene, KMT2D and KDM6A, respectively. Furthermore, frameshift variants appeared to be not associated with structural ocular elements. Between both types of KS, ocular structural elements were more frequently identified in KS1 compared with KS2, which only involved the optic disc in our cohort. These results reinforce the need for a comprehensive ophthalmologic exam upon diagnosis of KS and regular follow-up exams. The specific genotype may allow risk stratification of the severity of the ophthalmologic manifestation. However, additional studies involving larger cohorts are needed to replicate our observations and conduct powered analyses to more formally risk-stratify based on genotype, highlighting the importance of multicenter collaborations in rare disease research.
• Elhusseiny, A., Jabroun, M., Rajabi, F., Gonzalez, E., & Alkharashi, M. (2022). A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. European Journal of Ophthalmology, 32(6). doi:10.1177/11206721211027415
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  Purpose: To report a case of 16-month-old boy with a novel variant TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. Observation: A 16-month-old otherwise healthy boy was referred to Boston Children’s Hospital for evaluation of strabismus. Ocular examination revealed intermittent esotropia, left hypotropia, and limited left eye elevation in both adduction and abduction. Full cycloplegic hyperopic correction of +3.50 diopters (D) over both eyes was given to the patient. Over several months, refraction of the right eye showed progressive myopia (−6.00 D) with new onset iris heterochromia. Fundus examination showed there was a large area of chorioretinal atrophy with abrupt ending of the blood vessels; anterior to the ora serrata there were diffuse vitreous bands and veils that reached the lens anteriorly in direct contact with the lenticular opacity. A novel heterozygous nonsense likely pathogenic variant was identified in the TSPAN12 gene (NM_012338.3) c.315T>A (p.Cys105Ter) confirming the diagnosis of FEVR. Conclusion and importance: Asymmetric FEVR rarely present with unilateral axial myopia however association with acquired heterochromia and cataract has never been reported. We report a case of FEVR caused by a novel TSPAN12 likely pathogenic nonsense variant presenting as unilateral progressive myopia, acquired heterochromia, and pediatric cataract.
• Nasr, Y., Jabroun, M., & Bustros, Y. (2018). Corneal ectasia fifteen years post photorefractive keratectomy in one eye and laser in-situ keratomileusis in the fellow eye of a lebanese patient. Journal Medical Libanais, 66(5).
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  Purpose : To report a case of bilateral corneal ectasia fifteen years post photorefractive keratectomy (PRK) in one eye and laser in-situ keratomileusis (LASIK) in the fellow eye. Case : A 35-year-old-female with no previous illnesses and a presumably normal topographic pattern underwent PRK in her right eye and LASIK in the more myopic left eye. A retrospective analysis of the topography pattern with the current medical knowledge revealed the possibility of a form fruste keratoconus in the left eye. After yearly normal examinations, and despite the differences in risk factors and the technique used, the patient developed a bilateral corneal ectasia fifteen years later. Conclusion : Long-term follow-up is essential for the assessment of the safety of different types of keratorefractive surgeries in all patients regardless of their preoperative risk factors.

Poster Presentations

• Jabroun, M. (2024). Diagnostic Utility of Conversational Artificial Intelligence Models in Genetic Eye Diseases.. American Academy of Ophthalmology Meeting, Oct 2024.