• Users Online: 1095
  • Print this page
  • Email this page
Year : 2021  |  Volume : 11  |  Issue : 3  |  Page : 312-316

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Department of Ophthalmology, Tung Wah Eastern Hospital, Causeway Bay, Hong Kong, China

Correspondence Address:
Dr. Kai Ching Peter Leung
Department of Ophthalmology, Tung Wah Eastern Hospital, Causeway Bay, Hong Kong
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjo.tjo_54_20

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded55    
    Comments [Add]    

Recommend this journal