American journal of ophthalmology case reports · 2025
Serous maculopathy in congenital cavitary optic disc anomaly: A case series.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Krivit Jenna, Reiter Gregor S, Ye Run Zhou, Darr Kahlen, Schimmenti Lisa A, Iezzi Raymond
Аннотация
PURPOSE: This study aims to describe an adult child and parent with cavitary optic disc anomalies (CODA) with associated serous maculopathy and a non-coding triplication upstream of MMP19.
DESIGN: Retrospective, single-institution, observational case series.
SUBJECTS: 4 eyes of 2 related patients.
METHODS: This retrospective chart review used electronic medical records to summarize patient medical history, ophthalmology consultations, whole genome analysis, and imaging.
MAIN OUTCOME MEASURES: Descriptive analysis of multimodal imaging and genomic sequencing.
RESULTS: Patient 1, a 23-year-old male, was referred for visual changes in the setting of paraganglioma. He had evidence of optic disc asymmetry and serous sensory retinal detachment. Whole genome analysis was positive for a triplication upstream of the MMP19 coding region associated with CODA. His mother, patient 2, a 46-year-old female with history of bilateral optic pits, was evaluated after her son was diagnosed with CODA. She had the same MMP 19 triplication. Imaging revealed evidence of resolved serous maculopathy.
CONCLUSIONS: We describe inherited CODA with evidence of current or resolved serous maculopathy.
DESIGN: Retrospective, single-institution, observational case series.
SUBJECTS: 4 eyes of 2 related patients.
METHODS: This retrospective chart review used electronic medical records to summarize patient medical history, ophthalmology consultations, whole genome analysis, and imaging.
MAIN OUTCOME MEASURES: Descriptive analysis of multimodal imaging and genomic sequencing.
RESULTS: Patient 1, a 23-year-old male, was referred for visual changes in the setting of paraganglioma. He had evidence of optic disc asymmetry and serous sensory retinal detachment. Whole genome analysis was positive for a triplication upstream of the MMP19 coding region associated with CODA. His mother, patient 2, a 46-year-old female with history of bilateral optic pits, was evaluated after her son was diagnosed with CODA. She had the same MMP 19 triplication. Imaging revealed evidence of resolved serous maculopathy.
CONCLUSIONS: We describe inherited CODA with evidence of current or resolved serous maculopathy.