An Atypical Form of Bietti Crystalline Dystrophy

作者：Rossi Settimio; Testa Francesco; Li Anren; Di Iorio Valentina; Zhang Jun; Gesualdo Carlo; Della Corte Michele; Chan Chi Chao; Hejtmancik J Fielding; Simonelli Francesca^*

来源：Ophthalmic Genetics, 2011, 32(2): 118-121.

DOI：10.3109/13816810.2011.559653

Methods: The patient underwent a thorough medical anamnesis, genetic counseling, peripheral blood draw for CYP4V2 gene analysis and electron microscopy, and a complete ophthalmological assessment including optical coherence tomography, indocyanine green angiography, microperimetry, full-field electroretinogram and multifocal electroretinogram.
Results: The most striking features of the retina were deposits of yellowish-white glistening crystals and focal lobular areas of choriocapillary atrophy at the posterior pole and midperiphery. The full-field electroretinogram was normal and the multifocal electroretinogram showed extinguished central recordings. Mutation analysis revealed a homozygous c. 332T > C p.I111T mutation in exon 3 of the CYP4V2 gene. Typical cytoplasmic inclusions containing crystalline-like structure and large degenerative lysosomes were seen on electron microscopy of peripheral leukocytes.
Conclusion: Here we describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram. This suggests the existence of less severe forms of BCD related to relatively mild CYP4V2 mutations.

• 出版日期2011-6
• 单位NIH