%0 Case Reports
%T An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
%A Torrell-Belzach N
%A Miere A
%A Bhouri R
%A Srour M
%A Souied EH
%A Zambrowski O
%J Doc Ophthalmol
%V 148
%N 1
%D 2024 Feb 21
%M 38129706
%F 1.854
%R 10.1007/s10633-023-09958-3
%X <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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).<BR><B>CONCLUSIONS: </B>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.