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Article

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

BMC ophthalmology - 9 Apr 2021

Al-Khuzaei Saoud, Hudspith Karl A Z, Broadgate Suzanne, Shanks Morag E, Clouston Penny, Németh Andrea H, Halford Stephanie, Downes Susan M

Abstract excerpt

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 with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the...

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Identifiers

PMID: 33836713
DOI: 10.1186/s12886-021-01919-1
PMCID: PMC8034119

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