TY - JOUR
T1 - Bietti crystalline dystrophy
T2 - A morpho-functional evaluation
AU - Parravano, Mariacristina
AU - Sciamanna, Marta
AU - Giorno, Paola
AU - Boninfante, Antonluca
AU - Varano, Monica
PY - 2012/2
Y1 - 2012/2
N2 - We report the clinical findings and macular function of a patient with Bietti crystalline dystrophy. A 39-year-old woman reported visual loss in both eyes and nyctalopia. A complete ophthalmological evaluation, retromode imaging, SD-OCT acquisition, MP1 microperimetry, and multifocal electroretinogram (mfERG) were performed. Microcrystalline deposits in the cornea and the retina with retinal pigment epithelial atrophy were observed. Retromode imaging revealed visualization of normal large choroidal vessels, cystoid macular edema, and small defined glistening lesions. SD-OCT showed changes in the outer retina with numerous microcrystalline deposits. Microperimetry showed an absolute scotoma involving the perimacular area but sparing of the fovea. In both eyes, mfERG analysis suggests a dysfunction of pre-ganglionic retinal elements detectable in the 20 central retinal degrees. The genetic characterization showed an homozygous mutation c.772C > T[p.Leu258Phe] in exon 6. Retromode imaging and SD-OCT were useful tools to determine the extent and the localization of the crystals. Microperimetry should allow evaluation of the progression of the macular changes.
AB - We report the clinical findings and macular function of a patient with Bietti crystalline dystrophy. A 39-year-old woman reported visual loss in both eyes and nyctalopia. A complete ophthalmological evaluation, retromode imaging, SD-OCT acquisition, MP1 microperimetry, and multifocal electroretinogram (mfERG) were performed. Microcrystalline deposits in the cornea and the retina with retinal pigment epithelial atrophy were observed. Retromode imaging revealed visualization of normal large choroidal vessels, cystoid macular edema, and small defined glistening lesions. SD-OCT showed changes in the outer retina with numerous microcrystalline deposits. Microperimetry showed an absolute scotoma involving the perimacular area but sparing of the fovea. In both eyes, mfERG analysis suggests a dysfunction of pre-ganglionic retinal elements detectable in the 20 central retinal degrees. The genetic characterization showed an homozygous mutation c.772C > T[p.Leu258Phe] in exon 6. Retromode imaging and SD-OCT were useful tools to determine the extent and the localization of the crystals. Microperimetry should allow evaluation of the progression of the macular changes.
KW - Bietti crystalline dystrophy
KW - Macular dystrophy
KW - MfERG
KW - Microperimetry
KW - OCT
KW - Retromode
UR - http://www.scopus.com/inward/record.url?scp=84860271128&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84860271128&partnerID=8YFLogxK
U2 - 10.1007/s10633-011-9309-7
DO - 10.1007/s10633-011-9309-7
M3 - Article
C2 - 22205354
AN - SCOPUS:84860271128
VL - 124
SP - 73
EP - 77
JO - Documenta Ophthalmologica
JF - Documenta Ophthalmologica
SN - 0012-4486
IS - 1
ER -