Chanakarn Piamjitchol

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder that causes primary immunodeficiency. In addition to increasing infection susceptibility in various bodily systems, several ocular manifestations have been described in males. This condition is well described in males, due to its X-linked recessive inheritance. However, here we present, to our knowledge, the first cases of X-linked CGD chorioretinitis in female carriers, possibly due to skewed X-inactivation (lyonization). Methods: Comprehensive multimodal imaging, including color fundus photography, short-wavelength autofluorescence, and spectral domain optical coherence tomography (OCT), was conducted. Functional assessment was completed with full-field electroretinogram (ff-ERG). Results: This report details two sisters with X-linked CGD carrier status, both presenting chorioretinal lesions on fundoscopy. Observed features included punched-out chorioretinal lesions, perivascular atrophy, and peripheral pigment changes. Autofluorescence imaging confirmed hypoautofluorescent areas correlating with chorioretinal atrophy, and OCT revealed retinal collapse and ellipsoid zone loss in one sibling. Despite these structural changes, visual function remained stable with minimal progression over time. Subsequent serial ERGs did not show progression. Conclusions: The findings highlight that skewed X-inactivation may contribute to retinal changes in asymptomatic CGD carriers, underscoring the need for awareness of potential ocular manifestations in X-linked genetic disorders in female carriers.

Objective This study aims to compare visual outcomes following surgical resection of functional and non-functional pituitary adenoma. Methods A retrospective observational study included 103 patients with pituitary adenoma who underwent tumor resection at Chiang Mai university hospital between January 2010 and December 2019. Basic characteristics, tumor specific data, hormonal status and neuro-ophthalmic data were collected and statistically analyzed to identify differences in visual outcomes between functional and non-functional tumors. Results Between the 51 (49.50%) functional pituitary adenoma and 52 (50.50%) non-functional pituitary adenoma patients in this study, there were no differences in mean age at initial visit, sex, duration of onset, type of surgery, or adjunct radiotherapy. Initial visual acuity in logMAR in both the better and the worse eye, as well as the initial visual impairment score (VIS) which represents a combination of visual acuity and visual field, showed no statistically significant differences. The final visual acuity of the better eye was significantly better in the functional group (0.08± 0.15) than in the non-functional group (0.22±0.47), with a p-value of 0.04. Similarly, the VIS score was significantly better in the functional group (18.37±19.85) than in the non-functional group (28.87±26.83), with a p-value of 0.028. Conclusions Patients with functional pituitary adenomas have potentially better visual outcomes than those with non-functional pituitary adenomas after surgical resection. Keywords functioning pituitary adenoma, non-functioning pituitary adenoma, visual outcome, visual impairment score