Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography
| Autor: | Kai Ching Peter Leung, Tak Chuen Simon Ko |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Taiwan Journal of Ophthalmology, Vol 11, Iss 3, Pp 312-316 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2211-5056 2211-5072 |
| DOI: | 10.4103/tjo.tjo_54_20 |
| Popis: | Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group and has rarely been described in CORD. We report a case of young-onset CORD that was affected by an isolated ABCA4 mutation complicated by the development of MC. Through serial spectral-domain ocular coherence tomography MC has been observed to persist for 24 months before its resolution, followed by retinal thinning and macular atrophy with corresponding visual acuity decline. The formation of MC and visual acuity appeared to be directly correlated in ABCA4-related CORD and its manifestation is invaluable in predicting eventual visual loss. We further speculate that dysfunctional outer blood–retinal barrier may play a role in the pathophysiology of MC development in CORD. |
| Databáze: | Directory of Open Access Journals |
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