Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography
| Autor: | Tak Chuen Simon Ko, Kai Ching Peter Leung |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
cystoid maculopathy Cord Visual acuity genetic structures ocular coherence tomography ABCA4 Case Report macular cyst Optical coherence tomography Ophthalmology cone–rod dystrophy medicine Cyst Retinal thinning abca4 biology medicine.diagnostic_test business.industry Dystrophy RE1-994 medicine.disease eye diseases biology.protein sense organs medicine.symptom business Retinal Dystrophies |
| Zdroj: | Taiwan Journal of Ophthalmology, Vol 11, Iss 3, Pp 312-316 (2021) Taiwan Journal of Ophthalmology |
| ISSN: | 2211-5072 2211-5056 |
| 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: | OpenAIRE |
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