An atypical form of bietti crystalline dystrophy

Ophthalmic Genetics

Volumn 32, Issue 2, 2011, Pages 118-121

  Rossi, Settimio ^a   Testa, Francesco ^a   Li, Anren ^b   Iorio, Valentina Di ^a   Zhang, Jun ^b   Gesualdo, Carlo ^a   Corte, Michele Della ^a   Chan, Chi Chao ^b   Fielding Hejtmancik, J ^b   Simonelli, Francesca ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

bietti; CYP4V2 gene; electroretinogram

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BIETTI CRYSTALLINE DYSTROPHY; CASE REPORT; CLINICAL FEATURE; CYP4V2 GENE; ELECTRON MICROSCOPY; ELECTRORETINOGRAM; GENE; GENE MUTATION; GENETIC COUNSELING; HUMAN; INDOCYANINE GREEN ANGIOGRAPHY; MALE; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA DYSTROPHY;

CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; HUMANS; INCLUSION BODIES; INDOCYANINE GREEN; LEUKOCYTES; MALE; MIDDLE AGED; MUTATION; NIGHT BLINDNESS; PEDIGREE; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 79955816344     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.559653     Document Type: Article

References (12)

1. Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL. Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. Retina 2004;24:416-426. (Pubitemid 38780472)
2. Lee KY, Koh AH, Aung T, Yong VH, Yeung K, Ang CL, Vithana EN. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2005;46:3812-3816. (Pubitemid 44264691)
3. Mansour AM, Uwaydat SH, Chan CC. Long-term fol¬low-up in Bietti crystalline dystrophy. Eur J Ophthalmol 2007;17:680-682. (Pubitemid 351175352)
4. Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817-826. (Pubitemid 38568957)
5. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001;42:1707-1714. (Pubitemid 32652343)
6. Nakano M, Kelly EJ, Rettie AE. Expression and characteriza-tion of CYP4V2 as a fatty acid {omega}-hydroxylase. Drug Metab Dispos 2009;37:2119-2122.
7. Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 2001;132:395-402. (Pubitemid 32768610)
8. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004;108:107-114. (Pubitemid 39140118)
9. Brigell M, Bach M, Barber C, Moskowitz A.,Robson J. Guidelines for calibration of stimulus and recording param-eters used in clinical electrophysiology of vision. Doc Ophthalmol 2003;107:185-193. (Pubitemid 37461154)
10. Yuzawa M, Mae Y, Matsui M. Bietti's crystalline retinopathy. Ophthalmic Paediatr Genet 1986;7:9-20. (Pubitemid 16084525)
11. Grizzard WS, Deutman AF, Nijhuis F, de Kerk AA. Crystalline retinopathy. Am J Ophthalmol 1978;86:81-88. (Pubitemid 8357330)
12. Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical bio-chemical and pathological correlations in Bietti's crystalline dystrophy. Am J Ophthalmol 1994;118:569-582. (Pubitemid 24345618)