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Bietti crystalline dystrophy: a morpho-functional evaluation.

Mariacristina Parravano1, Marta Sciamanna, Paola Giorno

  • 1Fondazione GB Bietti-IRCCS, Via Livenza n 3, 00198 Rome, Italy. criparra@tin.it

Documenta Ophthalmologica. Advances in Ophthalmology
|December 30, 2011
PubMed
Summary
This summary is machine-generated.

Bietti crystalline dystrophy is characterized by crystalline deposits in the cornea and retina, leading to vision loss. Advanced imaging and electrophysiology revealed macular dysfunction and identified a specific genetic mutation.

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Retinal Diseases

Background:

  • Bietti crystalline dystrophy is an inherited retinal disorder characterized by lipid-like crystalline deposits in the cornea and retina.
  • The condition often leads to progressive visual impairment, including reduced visual acuity and nyctalopia.
  • Understanding the clinical manifestations and functional deficits is crucial for patient management.

Observation:

  • A 39-year-old female patient presented with bilateral visual loss and nyctalopia.
  • Ophthalmological evaluation revealed corneal and retinal crystalline deposits with retinal pigment epithelial atrophy.
  • Retromode imaging showed normal choroidal vessels, cystoid macular edema, and glistening lesions.

Findings:

  • SD-OCT demonstrated outer retinal changes with numerous microcrystalline deposits.
  • Microperimetry revealed a perimacular absolute scotoma, sparing the fovea.
  • Multifocal electroretinogram (mfERG) indicated pre-ganglionic retinal dysfunction within the central 20 degrees.

Implications:

  • Genetic analysis identified a homozygous c.772C > T[p.Leu258Phe] mutation in exon 6.
  • Retromode imaging and SD-OCT are valuable for assessing crystal extent and location.
  • Microperimetry can track the progression of macular changes in Bietti crystalline dystrophy.