Abstract
This case report discusses a patient with branchio-oculo-facial syndrome and bilateral optic nerve coloboma, with progressive retinoschisis disproportionate to coloboma extent and showing marked improvement after oral acetazolamide.
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Privacy-aware community infrastructureMihaela Chitoroaga, Daniela Gallo Castro, Aude Ambresin
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Branchiooculofacial syndrome.
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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
10.1007/s00439-009-0730-x · 2009
Optic disc pit maculopathy: when and how to treat? a review of the pathogenesis and treatment options.
10.1186/s40942-015-0013-8 · 2015
Management of OPTic disc pIt MAculopathy: long-term results of vitrectomy with internal limiting membrane flap (OPTIMA Study Report 1).
10.1016/j.oret.2025.12.008 · 2026
Oral acetazolamide as a medical adjuvant to retinal surgery in optic disc pit maculopathy in a pediatric patient.
10.1016/j.ajoc.2020.100599 · 2020
Overlapping expression patterns and redundant roles for AP-2 transcription factors in the developing mammalian retina.
10.1002/dvdy.23762 · 2012
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