A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33
| Autor: | Shyam A. Patel, Phillip B. Dray, Douglas P. Dworak, Lisa S. Thompson, Susan C. Echiverri |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine genetic structures Microphthalmia 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Cornea Orbital Diseases medicine Humans Microphthalmos Chromosome Aberrations Chromosomes Human Pair 14 Cysts business.industry Infant Newborn Retinal General Medicine Anatomy medicine.disease Magnetic Resonance Imaging eye diseases Ophthalmology 030104 developmental biology medicine.anatomical_structure chemistry Orbital cyst 030221 ophthalmology & optometry Optic nerve Surgery sense organs business Orbit Orbit (anatomy) |
| Zdroj: | Ophthalmic Plastic & Reconstructive Surgery. 33:S84-S87 |
| ISSN: | 0740-9303 |
| DOI: | 10.1097/iop.0000000000000612 |
| Popis: | A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33. |
| Databáze: | OpenAIRE |
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