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Full-Text Articles in Ophthalmology
Ocular Findings In The 16p11.2 Microdeletion Syndrome: A Case Report And Literature Review, Cybil S. Stingl, Colleen Jackson-Cook, Natario L. Couser
Ocular Findings In The 16p11.2 Microdeletion Syndrome: A Case Report And Literature Review, Cybil S. Stingl, Colleen Jackson-Cook, Natario L. Couser
Ophthalmology Publications
The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of the eye and ocular adnexa are also commonly associated findings seen in individuals with the 16p11.2 microdeletion syndrome, although these ophthalmic manifestations have not been well characterized. We conducted an extensive literature review to highlight the eye features in patients with the 16p11.2 microdeletion syndrome and describe a 5-year-old boy with the syndrome. The boy initially presented with intellectual disability, …
Oculodentodigital Dysplasia: A Case Report And Major Review Of The Eye And Ocular Adnexa Features Of 295 Reported Cases, Virang Kumar, Natario L. Couser, Arti Pandya
Oculodentodigital Dysplasia: A Case Report And Major Review Of The Eye And Ocular Adnexa Features Of 295 Reported Cases, Virang Kumar, Natario L. Couser, Arti Pandya
Ophthalmology Publications
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities. We performed an extensive literature review to highlight key eye features in patients with ODDD and report a new case of a female patient with a heterozygous missense GJA1 mutation (c.65G>A, p.G22E) and clinical features consistent with the condition. Our patient presented with multiple congenital anomalies including syndactyly, microphthalmia, microcornea, retrognathia, and a small nose with hypoplastic alae and prominent columella; in addition, an omphalocele defect was present, which has not been reported in previous cases. …