The cases of two children affected from LMBB syndrome are reported. The first child was six years old, suffering from obesity and mild mental retardation; the other was two years old, suffering from hexadactyly and obesity. In both children the suspected diagnosis of LMBB syndrome was verified by the electroetinographic evidence of a tapetoretinal degeneration although the fundi were atypical. A third child, the younger brother of the second case, presented an atypical pigmentation of the retina and the electroretinographic changes of a tapeto-retinal degeneration. Since tapeto-retinal degeneration, which is the most common of the main signs of the syndrome, is not always recognized by ophthalmoscopy in early childhood, the clinical value of electroretinography in making an early diagnosis is emphasized.
Two patients with Goldenhar syndrome developed corneal ulcers. Previous acid burn of the cornea and prolonged topical corticosteroid administration occurred in Patient 1. Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits. Serious ocular morbidity may be prevented by searching for and adequately treating these predisposing factors. It is possible that embryonic events contribute to ocular complications in Goldenhar syndrome, in part, by causing hypoplasia or abnormal function of the trigeminal and facial nerves.
A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：