{Reference Type}: Case Reports
{Title}: Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
{Author}: Al-Khuzaei S;Hudspith KAZ;Broadgate S;Shanks ME;Clouston P;Németh AH;Halford S;Downes SM;
{Journal}: BMC Ophthalmol
{Volume}: 21
{Issue}: 1
{Year}: Apr 2021 9
{Factor}: 2.086
{DOI}: 10.1186/s12886-021-01919-1
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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 family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members.<BR><B>CONCLUSIONS: </B>We describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis.