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Ultrabiomicroscopic-histopathologic correlations in individuals with autosomal dominant congenital microcoria: three-generation family report.

Ramirez-Miranda A, Paulin-Huerta JM, Chavez-Mondragón E, Islas-de la Vega G, Rodriguez-Reyes A - Case Rep Ophthalmol (2011)

Bottom Line: Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery.Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule.Ultrasound biomicroscopy could be a great option to confirm the disorder.

View Article: PubMed Central - PubMed

Affiliation: Anterior Segment Department, Instituto de Oftalmología Fundación Conde de Valenciana, Mexico City, Mexico.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

a Right eye of the 41-year-old son (patient 2). b Right eye of the 9-year-old grandson (patient 3). c 50-MHz ultrabiomicroscopy showing iris diameter of less than 1.8 mm and iris thickness of less than 830 μ.
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Figure 2: a Right eye of the 41-year-old son (patient 2). b Right eye of the 9-year-old grandson (patient 3). c 50-MHz ultrabiomicroscopy showing iris diameter of less than 1.8 mm and iris thickness of less than 830 μ.

Mentions: A 62-year-old woman (patient 1) presented with blurred vision and nyctalopia since childhood, noticing a bilateral, painless, gradual deterioration in her vision over the preceding 5 years. She reported no ophthalmic history and was systemically normal. Her best-corrected visual acuity was 20/200 in both eyes. Bilateral pupillary diameter of less than 2 mm in scotopic illumination, a hyperpigmented peripupillary area and transillumination defects of peripheral iris were identified, with no response to topically administrated mydriatic drugs (fig. 1a, b), as well as bilateral dense nuclear cataract. The intraocular pressure was 16 mm Hg in both eyes. The fundus was difficult to evaluate due to the small pupil. Examination of the patient's son and grandson aged 41 years and 9 years, respectively (patients 2 and 3), revealed the same iris configurations without cataracts (fig. 2a, b). The best-corrected visual acuity was 20/20 in both patients. In patient 2, the refractive error was −7.00 sph in both eyes; in patient 3, it was plano −0.75 × 175 in the right eye and plano −0.50 × 5 in the left eye. They also had normal intraocular pressures (within a range of 12 to 15 mm Hg). None of the patients had angle abnormalities or glaucomatous changes in the optic nerve. The patient's other 2 daughters and 2 other grandchildren were unaffected.


Ultrabiomicroscopic-histopathologic correlations in individuals with autosomal dominant congenital microcoria: three-generation family report.

Ramirez-Miranda A, Paulin-Huerta JM, Chavez-Mondragón E, Islas-de la Vega G, Rodriguez-Reyes A - Case Rep Ophthalmol (2011)

a Right eye of the 41-year-old son (patient 2). b Right eye of the 9-year-old grandson (patient 3). c 50-MHz ultrabiomicroscopy showing iris diameter of less than 1.8 mm and iris thickness of less than 830 μ.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC3104862&req=5

Figure 2: a Right eye of the 41-year-old son (patient 2). b Right eye of the 9-year-old grandson (patient 3). c 50-MHz ultrabiomicroscopy showing iris diameter of less than 1.8 mm and iris thickness of less than 830 μ.
Mentions: A 62-year-old woman (patient 1) presented with blurred vision and nyctalopia since childhood, noticing a bilateral, painless, gradual deterioration in her vision over the preceding 5 years. She reported no ophthalmic history and was systemically normal. Her best-corrected visual acuity was 20/200 in both eyes. Bilateral pupillary diameter of less than 2 mm in scotopic illumination, a hyperpigmented peripupillary area and transillumination defects of peripheral iris were identified, with no response to topically administrated mydriatic drugs (fig. 1a, b), as well as bilateral dense nuclear cataract. The intraocular pressure was 16 mm Hg in both eyes. The fundus was difficult to evaluate due to the small pupil. Examination of the patient's son and grandson aged 41 years and 9 years, respectively (patients 2 and 3), revealed the same iris configurations without cataracts (fig. 2a, b). The best-corrected visual acuity was 20/20 in both patients. In patient 2, the refractive error was −7.00 sph in both eyes; in patient 3, it was plano −0.75 × 175 in the right eye and plano −0.50 × 5 in the left eye. They also had normal intraocular pressures (within a range of 12 to 15 mm Hg). None of the patients had angle abnormalities or glaucomatous changes in the optic nerve. The patient's other 2 daughters and 2 other grandchildren were unaffected.

Bottom Line: Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery.Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule.Ultrasound biomicroscopy could be a great option to confirm the disorder.

View Article: PubMed Central - PubMed

Affiliation: Anterior Segment Department, Instituto de Oftalmología Fundación Conde de Valenciana, Mexico City, Mexico.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus