Retinitis pigmentosa (RP) is one of the most severe hereditary retinal disorders with a worldwide prevalence reaching 1 in every 3000–5000 people [1] 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. More than 45 genes have been identified to cause the retinal disease through different inheritance patterns autosomal-recessive (50–60%), autosomal-dominant (30–40%), or X-linked (5–15%) [2].
RP usually begins with the involvement of rod photoreceptors followed by secondary degeneration of cone photoreceptor. Typical funduscopic findings include bone-spicule retinal pigmentation (initially in the peripheral retina), attenuation of retinal vessels, waxy pallor of the optic disc, and various degrees of chorioretinal atrophy.
Treatment is directed at slowing down the degenerative process by vitamin therapy and sunlight protection plus treating ophthalmologic complications (cataract and macular edema) and vision rehab. Future therapeutic prospects include retinal prosthesis [3] as well as gene therapy [4].
On the other hand, pituitary adenomas are a common type of brain tumors comprising 15% of all intracranial primary brain tumors. Pituitary adenomas may be clinically silent or may present as three categories of manifestations. The first category in clinical presentation is seen with functional (hormonally active) adenomas which present as a certain endocrinopathy, due to excess of a certain hormone. The examples include acromegaly, Cushing disease, prolactinoma, secondary hyperthyroidism due to excess of growth hormone, adrenocorticotropin-stimulating hormone, prolactin, and thyroid-stimulating hormone, respectively. The second category of clinical presentations are seen with nonfunctional adenomas; these adenomas are not accompanied with secreting excess amounts of a certain hormone though have the potential to be diagnosed at a later stage and grow to larger sizes and produce symptoms of mass effect, i.e., headache, visual field restrictions (typically produce tunnel vision due to pressure on optic chiasma), cranial neuropathies, and symptoms of raised intracranial pressure. The third category of clinical presentation of a pituitary adenoma is apoplexy, which presents itself with symptoms of severe sudden-onset headache and sudden visual loss followed by decreased production of pituitary hormones.
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.
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.