小眼球黄斑。
The nanophthalmic macula.
作者信息
Serrano J C, Hodgkins P R, Taylor D S, Gole G A, Kriss A
机构信息
Department of Ophthalmology, Great Ormond Street Hospital for Children, London.
出版信息
Br J Ophthalmol. 1998 Mar;82(3):276-9. doi: 10.1136/bjo.82.3.276.
AIMS
To define an unusual macular appearance found in association with nanophthalmos.
METHODS
A case review.
RESULTS
Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal.
CONCLUSION
A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny's syndrome. Inheritance of nanophthalmos appears to be autosomal recessive.
目的
明确与小眼球相关的一种不寻常的黄斑外观。
方法
病例回顾。
结果
对7例（年龄8个月至17岁）小眼球患儿进行了检查。他们均表现出相同的临床特征，即黄斑呈现不寻常的黄色外观，伴有视网膜皱褶和视盘拥挤。4例患儿进行的视觉电生理检查结果正常。
结论
小眼球存在独特的黄斑色素沉着，并伴有脉络膜视网膜皱褶和视盘拥挤。视网膜皱褶被认为是由于巩膜和视网膜生长不均衡所致，而黄斑变色是由于叶黄素色素排列或位置的先天性异常，而非退行性改变。该病例系列中包含文献报道的第二例与肯尼综合征相关的小眼球病例。小眼球的遗传方式似乎为常染色体隐性遗传。
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