Undetected pituitary adenoma in a patient with retinitis pigmentosa

Abstract

Background: Retinitis pigmentosa (RP) is one of the most severe hereditary retinal disorders with a worldwide prevalence reaching 1 in every 3000-5000 people and a total of almost one million affected individuals. RP is heterogeneous in its clinical presentations but typically presents as progressive visual dysfunction, including nyctalopia in adolescence, restricted peripheral vision (tunnel vision) in young adults, and loss of central vision at an advanced age. Case description: Herein, we want to report a case of RP who presented with gradual worsening of vision and headache, and further evaluation revealed a concomitant non-functional pituitary macroadenoma. Ophthalmologic evaluation revealed a little chance for him to regain his vision, so the patient refused to undergo endoscopic surgical resection. However, he is still under clinic-radiologic follow-up, to be evaluated for progression in tumor size and obstructive hydrocephalus. Conclusion: Presenting with similar symptoms of tunnel vision, the simultaneous occurrence of these two diseases in a patient may delay the diagnosis of the latter, leading to its progression.

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss

“…Retinitis pigmentosa (RP, MIM #268000) is one of the most severe hereditary retinal disorders and a major cause of visual disability and blindness ( Taghipour et al, 2019 ; González-Del Pozo et al, 2020 ). It has wide phenotypic and genetic heterogeneity with numerous gene defects ( Ávila-Fernández et al, 2010 ; Gao et al, 2019 ; Karali et al, 2019 ).…”