Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Cone dysfunction
Congenital stationary night blindness
Photoreceptors
Retina
Journal
Documenta ophthalmologica. Advances in ophthalmology
ISSN: 1573-2622
Titre abrégé: Doc Ophthalmol
Pays: Netherlands
ID NLM: 0370667
Informations de publication
Date de publication:
Apr 2024
Apr 2024
Historique:
received:
25
08
2023
accepted:
06
12
2023
pubmed:
11
1
2024
medline:
11
1
2024
entrez:
11
1
2024
Statut:
ppublish
Résumé
Bi-allelic variants in CABP4 are associated with congenital cone-rod synaptic disorder, which has also been classified, electrophysiologically, as incomplete congenital stationary night blindness (iCSNB). We describe clinical findings in a patient who demonstrated an unusual macular optical coherence tomography (OCT) phenotype, not previously reported in this condition. Our patient underwent multimodal retinal imaging, international standard full-field ERG testing and whole genome sequencing. The patient was a 60-year-old woman with non-progressive visual impairment since birth, nystagmus and preference for dim lighting. Clinical fundus examination was unremarkable. OCT imaging revealed a hypo-reflective zone under an elevated fovea in both eyes. ERGs showed an electronegative DA10 response, with severely abnormal light-adapted responses. Whole genome sequencing revealed homozygosity for a known pathogenic variant in CABP4. No variants were found in other genes that could explain the patient's phenotype. OCT findings of foveal elevation and an underlying hypo-reflective zone are novel in this condition. Whilst the clinical history was similar to achromatopsia and other cone dysfunction syndromes, ERG findings suggested disease associated with CACNA1F or CABP4. As CACNA1F is X-linked, CABP4 was more likely, and confirmed on genetic testing. The patient saw better in dim light, confirming that night blindness is not a feature of CABP4-associated disease. Our case highlights the value of ERGs in discriminating between causes of cone dysfunction, and extends the range of retinal imaging phenotypes reported in this disorder.
Identifiants
pubmed: 38206458
doi: 10.1007/s10633-023-09961-8
pii: 10.1007/s10633-023-09961-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-120Subventions
Organisme : Wellcome Trust
ID : 206619/Z/17/Z
Pays : United Kingdom
Informations de copyright
© 2024. The Author(s).
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