PURPOSE: To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses. 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.
PURPOSE: To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses. 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.
Authors: J Lee; X Jiao; J F Hejtmancik; M Kaiser-Kupfer; W A Gahl; T C Markello; J Guo; G J Chader Journal: Invest Ophthalmol Vis Sci Date: 2001-07 Impact factor: 4.799
Authors: Kelvin Y C Lee; Adrian H C Koh; Tin Aung; Victor H K Yong; Kit Yeung; Chong-Lye Ang; Eranga N Vithana Journal: Invest Ophthalmol Vis Sci Date: 2005-10 Impact factor: 4.799
Authors: M I Kaiser-Kupfer; C C Chan; T C Markello; M A Crawford; R C Caruso; K G Csaky; J Guo; W A Gahl Journal: Am J Ophthalmol Date: 1994-11-15 Impact factor: 5.258
Authors: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John Heckenlively; Richard G Weleber; Elias I Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik Journal: Am J Hum Genet Date: 2004-03-23 Impact factor: 11.025