Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report
| Autor: | Arturo Ramirez-Miranda, Abelardo Rodriguez-Reyes, Gilberto Islas-de la Vega, Juan Manuel Paulin-Huerta, Eduardo Chavez-Mondragon |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
medicine.medical_specialty
genetic structures medicine.medical_treatment Ultrasound biomicroscopy Glaucoma Iris Histopathology lcsh:Ophthalmology Microcoria Maldevelopment Biopsy medicine Iris (anatomy) medicine.diagnostic_test business.industry Anatomy Phacoemulsification medicine.disease Ophthalmology medicine.anatomical_structure lcsh:RE1-994 Published: May 2011 business |
| Zdroj: | Case Reports in Ophthalmology Case Reports in Ophthalmology, Vol 2, Iss 2, Pp 160-165 (2011) |
| ISSN: | 1663-2699 |
| Popis: | Background: Congenital microcoria (CMC) is due to a maldevelopment of the dilator pupillae muscle of the iris, with a pupil diameter of less than 2 mm. It is associated with juvenile open angle glaucoma and myopia. We report on a three-generation Mexican-Mestizo family with CMC. The eldest member’s iris biopsy proved muscle anomalies. Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery. Patients and Methods: A 62-year-old woman, her 41-year-old son and her 9-year-old grandson affected with microcoria since birth, documented by clinical examination and ultrasound biomicroscopy. The eldest member underwent phacoemulsification, and a biopsy of the iris and the anterior capsule of the lens was taken. Results: Ultrasound biomicroscopy confirmed the CMC diagnosis showing iris thinning and a pupil diameter of less than 2 mm. Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule. Discussion: Although CMC is a rare disorder, which is due to a maldevelopment of the dilator pupillae muscle of the iris, it could be associated with juvenile open angle glaucoma and myopia; therefore, precise diagnosis is required. Ultrasound biomicroscopy could be a great option to confirm the disorder. |
| Databáze: | OpenAIRE |
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