Congenital Retinal Dystrophy and Corneal Opacity in Trisomy 8 Mosaicism

doi:10.1016/j.jaapos.2004.12.021

Journal of American Association for Pediatric Ophthalmology and Strabismus

Volume 9, Issue 3, June 2005, Pages 290-291

https://doi.org/10.1016/j.jaapos.2004.12.021 Get rights and content

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Case report

A 5 month-old white male infant was referred for evaluation of a corneal opacity in his left eye. Significant medical history included incarcerated abdominal hernia, hypospadias, cryptorchidism, and tethered spinal cord; trisomy 8 mosaicism was established by cytogenetics. The patient’s serum titers were negative for toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Ophthalmologic examination demonstrated ability to fix and follow with each eye, orthophoria, no nystagmus, and grossly

Discussion

Trisomy 8 mosaicism is characterized by mental retardation, a prominent forehead with deep-set eyes, cupped ears, and a variety of orthopedic, genitourinary, and cardiovascular abnormalities.¹ In addition to strabismus, there have been reports of optic atrophy, chronic uveitis, hypertelorism, blepharophimosis, microphthalmia, ptosis, heterochromia, cataract, bilateral Duane syndrome, congenital pendular nystagmus, abnormal ERG with decreased cone function, and foveal hypoplasia.2, 3 One

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