Jurklies B, Jurklies C, Schmidt U, Wessing A, Bornfeld N
Universitäts-Augenklinik Essen, Hufelandstrasse 55, 45122 Essen (Direktor der Abteilung für Erkrankungen des hinteren Augenabschnittes: Prof. Dr. N. Bornfeld), E-mail:
Klin Monbl Augenheilkd. 2001 Aug;218(8):562-9. doi: 10.1055/s-2001-17139.
A tapetoretinal dystrophy with crystalline deposits of the retina and limbal cornea was described by Bietti in 1937. To date, only a few cases with long-term follow up have been reported.
Two patients are presented including the clinical findings, fluorescein angiography, electrophysiology [electroretinography (ERG); electrooculography (EOG), multifocal electroretinography (MERG)], adaptometry, and transmission electron microscopy (TEM) of peripheral blood lymphocytes. The clinical findings were at least in part documented over a period of 30 years.
The most striking features were deposits in the retina and cornea associated with crystalloid lysosomal inclusions in peripheral lymphocytes, and choroidal atrophy especially in advanced stages of the disease. The light rise (EOG), rod- and cone-driven responses (ERG), the responses of the MERG and visual fields were affected progressively during the course. These advanced changes of the retinal pigment epithelium and choriocapillaris were observed in the 2(nd) decade already.
The findings of deposits in the cornea, retina and lymphocytes may help to differentiate BCD from other chorioretinal dystrophies. The results confirm a variable course in clinical expression of BCD between individuals.
1937年比耶蒂描述了一种伴有视网膜和角膜缘晶状体沉积的视网膜色素变性。迄今为止，仅有少数病例有长期随访报告。
介绍了两名患者，包括临床表现、荧光素血管造影、电生理检查[视网膜电图（ERG）；眼电图（EOG）、多焦视网膜电图（MERG）]、适应度测量以及外周血淋巴细胞的透射电子显微镜检查（TEM）。临床发现至少在30年的时间里有部分记录。
最显著的特征是视网膜和角膜中的沉积物，伴有外周淋巴细胞中的类晶体溶酶体包涵体，以及脉络膜萎缩，尤其是在疾病晚期。在病程中，光峰（EOG）、视杆和视锥驱动反应（ERG）、MERG反应和视野逐渐受到影响。视网膜色素上皮和脉络膜毛细血管的这些晚期变化在第二个十年就已观察到。
角膜、视网膜和淋巴细胞中沉积物的发现可能有助于将比耶蒂结晶性营养不良与其他脉络膜视网膜营养不良区分开来。结果证实了比耶蒂结晶性营养不良个体间临床表型的可变病程。
