Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

Abstract Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. Case presentation A 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed...

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Bibliographic Details
Main Authors: Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Ophthalmology
Subjects:
Retina
Macular dystrophy
Next generation sequencing
CRX
ABCA4 sequence variant, mutation
Phenotype/genotype, reduced penetrance, family survey
Online Access:https://doi.org/10.1186/s12886-021-01919-1

Internet

https://doi.org/10.1186/s12886-021-01919-1

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