The TRNT1 gene (tRNA nucleotidyl trasferase 1) codes for a protein that functions by catalyzing the addition of a CCA nucleotide triplet to tRNA molecules in the cytosol and mitochondria5. The report showed that the patient was heterozygous for a pathologic mutation in the TRNT1 gene. Our patient above had genetic testing completed via the Invitae company inherited retinal disorders panel which can test for up to 330 genes. ![]() Patients with autosomal recessive inheritance make up ~50-60% of RP. Patients with autosomal dominant inheritance (30-40%) have the best prognosis3. Patients with X-linked RP (5-15%) have the most severe disease3. The severity of disease can be correlated with the mendelian inheritance pattern. Fundus autofluorescence (FAF) showed extensive hypo-autofluorescence surrounding the vascular arcades and extending into the retinal periphery with hyper-autofluorescence in the macula OU (figure 4). Fluorescein angiography (FA) showed normal filling time with extensive window defects and blockage corresponding to the bone spicules and vascular attenuation, there was no leakage (figure 3). Spectral domain optical coherence tomography (SD-OCT) revealed loss of the ellipsoid zone and outer retina OU, but more so OD (figure 2). There was significant vascular attenuation OU as well as optic nerve pallor OU (figure 1). Examination of the posterior segment revealed scattered bone spicules throughout the periphery OU (figure 1). ![]() The anterior segment examination was unremarkable outside of trace nuclear sclerosis in both eyes (OU). The intraocular pressure (IOP) was 18 mm Hg OD and 22 mm Hg OS. The patient’s Snellen acuity was 20/50 in the right eye (OD) with pinhole improvement to 20/25 and 20/30 in the left eye (OS) with pinhole improvement to 20/25. The past medical history was positive for hypertension. The patient has no known history of any eye issues, and no family ocular history. A 62 year old M presents with blurry vision in both eyes and difficulty seeing at night.
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