Ophthalmic genetics · 2011
An atypical form of Bietti crystalline dystrophy.
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Rossi Settimio, Testa Francesco, Li Anren, Iorio Valentina Di, Zhang Jun, Gesualdo Carlo, Corte Michele Della, Chan Chi-Chao, Fielding Hejtmancik J, Simonelli Francesca
Аннотация
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.
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.
Предметные рубрики MeSH
Corneal Dystrophies, HereditaryCytochrome P-450 Enzyme SystemCytochrome P450 Family 4DNA Mutational AnalysisElectroretinographyFluorescein AngiographyHumansInclusion BodiesIndocyanine GreenLeukocytesMaleMiddle AgedMutationNight BlindnessPedigreeRetinal DiseasesRetinal Pigment EpitheliumTomography, Optical CoherenceVisual Field TestsVisual Fields