A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion.

Conclusion: An unusual familial cone-rod dystrophy phenotype was associated with heterozygous CRX deletion, a pathogenic variant that had a presumed mechanism of haploinsufficiency. The consistent finding of arcuate temporal macular lesions among affected family members was striking, particularly given the variable expressivity previously associated with CRX-related retinopathy. Additional phenotypic studies are needed to assess how frequently this temporal arcuate retinopathy appearance occurs in individuals harboring a similar deletion who are not from the current family. PMID: 31743059 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research