{Reference Type}: Journal Article
{Title}: RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
{Author}: Gupta PR;O'Connell K;Sullivan JM;Huckfeldt RM;
{Journal}: Ophthalmic Genet
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jan 15
{Factor}: 1.274
{DOI}: 10.1080/13816810.2024.2303683
{Abstract}: <B>UNASSIGNED: </B>Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features.<BR><B>UNASSIGNED: </B>A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.<BR><B>UNASSIGNED: </B>A 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.<BR><B>UNASSIGNED: </B>RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.