Miller M T, Spencer M A
Department of Ophthalmology and Visual Sciences Eye and Ear Infirmary University of Illinois at Chicago, USA.
Trans Am Ophthalmol Soc. 1995;93:203-15; discussion 215-7.
To describe two very different natural history courses in 2 patients with hemifacial atrophy. Progressive hemifacial atrophy (Parry-Romberg syndrome, Romberg syndrome, PHA) is characterized by slowly progressive atrophy, frequently involving only one side of the face, primarily affecting the subcutaneous tissue and fat. The onset usually occurs during the first 2 decades of life. The cause and pathophysiology are unknown. Ophthalmic involvement is common, with progressive enophthalmos a frequent finding. Pupillary disturbances, heterochromia, uveitis, pigmentary disturbances of the ocular fundus, and restrictive strabismus have also been reported. Neurologic findings may be present, but the natural history and progression of ocular findings are often not described in the literature.
We studied the records and present findings of 2 patients with progressive hemifacial atrophy who were observed in our institution over a 10-year period.
Both patients showed progression of ophthalmic findings, primarily on the affected side. One patient has had chronic uveitis with secondary cataract and glaucoma, in addition to retinal pigmentary changes. She also had a third-nerve paresis of the contralateral eye and mild seizure activity. The other patient had mild uveitis, some progression of unilateral retinal pigmentary changes, and a significant increase in hyperopia in the affected eye, in addition to hypotony at age 19 without a clear cause, but with secondary retinal and refractive changes.
Ocular manifestations of progressive hemifacial atrophy are varied, but can progress from mild visual impairment to blindness.
描述2例半侧面部萎缩患者截然不同的自然病程。进行性半侧面部萎缩（帕里-罗姆伯格综合征、罗姆伯格综合征、PHA）的特征为缓慢进行性萎缩，通常仅累及面部一侧，主要影响皮下组织和脂肪。发病通常发生在生命的前20年。病因和病理生理学尚不清楚。眼部受累很常见，进行性眼球内陷是常见表现。也有瞳孔紊乱、异色症、葡萄膜炎、眼底色素紊乱和限制性斜视的报道。可能存在神经系统表现，但文献中往往未描述眼部表现的自然病程和进展情况。
我们研究了在我们机构10年间观察到的2例进行性半侧面部萎缩患者的病历及当前检查结果。
两名患者均表现出眼部症状进展，主要发生在患侧。一名患者除视网膜色素改变外，还患有慢性葡萄膜炎伴继发性白内障和青光眼。她对侧眼还存在动眼神经麻痹和轻度癫痫活动。另一名患者患有轻度葡萄膜炎，单侧视网膜色素改变有一定进展，患眼远视显著增加，此外在19岁时出现不明原因的低眼压，但伴有继发性视网膜和屈光改变。
进行性半侧面部萎缩的眼部表现多样，但可从轻度视力损害发展至失明。
