An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
Doc Ophthalmol
; 148(1): 57-64, 2024 Feb.
Article
in En
| MEDLINE
| ID: mdl-38129706
ABSTRACT
PURPOSE:
The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases.METHODS:
This is an observational case report of a 56-year-old woman, with scattered multiple yellow-white retinal dots firstly diagnosed as fundus albipunctatus. Ten years after presentation, a deterioration in rod and cone responses in ff-ERG was detected, which allowed us to discard the first diagnostic hypothesis and proceed with a genetic testing.RESULTS:
Ten years after presentation, she presented a clear progression of the abnormal photoreceptor response with a cone and rod involvement in ff-ERG, which was not compatible with the previous suspicion of fundus albipunctatus. Six months later, genetic testing results together with the typical progression of atrophic patchy lesions in multimodal imaging allowed a certain diagnosis of L-ORD, caused by an already reported pathogenic variant in the C1QTNF5 gene (c.563C > T; p. Pro188 Leu).CONCLUSIONS:
We demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Degeneration
/
Retinal Diseases
/
Retinal Dystrophies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Doc Ophthalmol
/
Doc. ophthalmol
/
Documenta ophthalmologica
Year:
2024
Document type:
Article
Affiliation country:
France
Country of publication:
Netherlands