Journal of American Association for Pediatric Ophthalmology and Strabismus
Short reportCongenital Retinal Dystrophy and Corneal Opacity in Trisomy 8 Mosaicism
Section snippets
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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Cited by (7)
Partial trisomy and mosaicism associated with Fallot Tetralogy
2011, Anales de PediatriaSystemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations
2020, American Journal of Medical Genetics, Part C: Seminars in Medical GeneticsConstitutional Trisomy 8 Mosaicism with Persistent Macrocytosis
2017, Cytogenetic and Genome ResearchChromosome abnormalities and the genetics of congenital corneal opacification
2011, Molecular VisionChromosomal abnormalities in clinical psychiatry: A report of two older patients
2007, European Journal of Psychiatry
Supported in part by an unrestricted grant from Research to Prevent Blindness Inc, New York, New York.