Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Ophthalmic Genet
; 40(5): 461-465, 2019 10.
Article
in En
| MEDLINE
| ID: mdl-31638456
ABSTRACT
Background:
Bietti crystalline corneoretinal dystrophy (BCD) (OMIM 210370) is a rare autosomal recessive retinal dystrophy typically characterized by multiple intraretinal crystals over the posterior pole of the retina. Degeneration of the retina and sclerosis of the choroidal vessels results in progressive night blindness and central visual field loss.Methods:
Detailed ophthalmic and genetic testing of the patient and his father were performed.Results:
We report on a 41-year-old male patient with advanced chorioretinal dystrophy at the posterior pole extending into the peripheral retina. His sister and his father were similarly affected with nyctalopia and decreased visual acuity, although his father had a milder phenotype of a typical macular dystrophy. On close slit-lamp examination, however, both patient and his father had multiple yellow-white crystals in the peripheral cornea. Corneal findings and consanguinity of the patient's parents lead to suspicion of BCD. Molecular genetic results of the patient and his father showed homozygous for CYP4V2, c. 197T>G p.(Met66Arg) confirming the diagnosis of BCD.Conclusions:
The patient's pedigree shows pseudodominant inheritance due to consanguineous parents. However, careful examination of the corneal findings strengthened the clinical suspicion of BCD, facilitating the molecular genetic confirmation of this autosomal recessive disease.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Diseases
/
Corneal Dystrophies, Hereditary
/
Corneal Diseases
/
Corneal Opacity
/
Cytochrome P450 Family 4
/
Homozygote
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Ophthalmic Genet
Journal subject:
GENETICA MEDICA
/
OFTALMOLOGIA
Year:
2019
Document type:
Article
Affiliation country:
United kingdom