Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration.
Ophthalmic Genet
; 44(5): 505-508, 2023 10.
Article
in En
| MEDLINE
| ID: mdl-36440807
ABSTRACT
INTRODUCTION:
An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the left eye.METHODS:
Genetic studies disclosed a heterozygous pathogenic variant in the KCNJ13 gene was identified (c.484C>T (p.Arg162Trp)), consistent with a diagnosis of snowflake vitreoretinal degeneration (SVD).RESULTS:
While there were no corneal guttata, juvenile cataracts, or perivascular sheathing in this case, salient features of SVD included a fibrillar vitreous structure, crystalline retinopathy, and flattened optic nerves. The patient developed a FTMH in the left eye at 17 months follow up, followed by a rhegmatogenous retinal detachment (RRD) requiring 2 surgical repairs.CONCLUSION:
This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Degeneration
/
Retinal Perforations
/
Retinal Detachment
/
Retinoschisis
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Journal:
Ophthalmic Genet
Journal subject:
GENETICA MEDICA
/
OFTALMOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
Estados Unidos