Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.
Neurogenetics
; 25(1): 33-38, 2024 Jan.
Article
in En
| MEDLINE
| ID: mdl-38105315
ABSTRACT
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Vitamin E Deficiency
/
Retinitis Pigmentosa
Limits:
Humans
Language:
En
Journal:
Neurogenetics
Journal subject:
GENETICA
/
NEUROLOGIA
Year:
2024
Document type:
Article
Affiliation country:
France