Title

BIETTI’S CRYSTALLINE CYSTROPHY – A CASE REPORT.

Introduction

Report a case of a Bietti’s crystalline dystrophy (BCD).

Methods

A 41-year-old female complained about poor vision in the right eye. She had controlled arterial hypertension and her Visual Acuity with best correction was 20/200 in the right eye and 20/25 in the left eye. Biomicroscopy examination was normal in both eyes. Fundus examination presented drusen like images at posterior pole of retina in both eyes. Fluorescein Angiography (Fig 1) and the Optical Coherence Tomography (OCT) ( Fig 2) were performed.

Results

The patient was followed up by observation and referred to the Neurology Department for further investigations.

Discussion

Bietti’s crystalline dystrophy is a rare autosomal recessive disease. It involves the pathological variant of the CYP4V2 gene. The BCD fundus examination shows glistening crystalline-like lesions at posterior pole of retina. In some cases, those lesions sometimes can also be found in the patient’s cornea. Fundus also shows atrophic-like changes of RPE and patchy atrophic change of choriocapillaris vessels. Important differential diagnoses are Retinitis Pigmentosa, Cystinosis, Primary Hyperoxaluria. BCD Prognosis is poor. Visual impairment is expected around the fourth decade of life and legal blindness is common around the sixth decade. There is no known cure for this disease. The patient is followed up yearly to monitor the disease and the possible emergence of other retinal problems, such as edema, atrophy or macular hole.

Keywords

BIETTI’S CRYSTALLINE DYSTROPHY, GENETIC DISEASE, CASE REPORT

Area

CLINICAL CASE

Authors

Thiago SIQUEIRA ROCHA, RAPHAEL DE ALMEIDA PENTAGNA, TULIO SANTOS SIQUEIRA PECANHA, ARMANDO MAGALHAES NETO