Sickle cell disease (SCD) is one of the most common genetic diseases, affecting nearly every organ, causing disability and reduced life expectancy. Newborn screening (NBS) is a successful public health initiative identifying SCD and other hemoglobinopathy disorders in infants to facilitate early treatment and management. A linked comprehensive surveillance system for SCD does not exist across programs in the United States (US), but collaborative efforts backed by agencies such as the Centers for Disease Control and Prevention and Centers for Medicare and Medicaid Services (CMS) are in place to generate population-based longitudinal public health surveillance to inform understanding of long-term outcomes.

The guanine-to-adenine substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA transfer RNA-valine gene has been reported to cause sensorineural deafness, ataxia, myoclonus, seizures, and mental retardation. This study hereby presents a single case report of a new retinal phenotype associated with this mutation: a middle-aged woman with retinal pigment epithelium stippling, atrophy, and peripapillary (retinal pigment epithelium) dropout on fundus examination. The patient was administered an empiric trial of a mitochondrial cocktail with close monitoring of her systemic symptoms. This study identified a novel G1606A mutation to cause early-onset macular pathology resembling that previously described in the A3243G mutation. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:116-119.].

Background: Retinitis pigmentosa GTPase regulator (RPGR) gene mutations are a common cause of X-linked retinitis pigmentosa and X-linked cone-rod dystrophy. There have been no previous reports of association with crystalline retinopathy or pseudo-crystalline retinopathy.Materials and Methods: We describe the history, clinical findings, retinal imaging, and electrodiagnostic studies of a patient with a tapetal-like reflex (TLR) and pseudo-crystalline retinopathy secondary to RPGR mutation.Case Description: Asymptomatic TLR secondary to RPGR mutation was diagnosed in a 14-year-old African American female with a family history of retinal dystrophy and no other past ophthalmic or medical history. Pseudo-crystalline retinopathy was observed on the Optos scanning laser ophthalmoscopy (SLO) imaging system but not on color fundus photography (CFP). Evidence of a TLR secondary to RPGR mutation was confirmed by CFP, autofluorescence, and genetic testing.Conclusion: We present a case of pseudo-crystalline retinopathy seen on Optos imaging in a patient with a TLR secondary to RPGR mutation.