QLTI-06. Ophthalmologic Manifestations in Adults with Phakomatoses: A Retrospective Review

Abstract BACKGROUND Phakomatoses are rare, congenital neurocutaneous syndromes that affect the skin, eyes, and central nervous system. While ophthalmologic manifestations are well described in children, data in adult populations remain limited. This study aimed to characterize the spectrum and frequency of ocular involvement in adults with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 and related schwannomatoses (NF2/SWS), tuberous sclerosis complex (TS), and von Hippel-Lindau disease (VHL) in a multidisciplinary clinical setting. METHODS We conducted a retrospective chart review of adult patients with a confirmed diagnosis of phakomatosis who were seen at the UAMS Adult NF Clinic and the Jones Eye Institute. Only patients with documented dilated eye exams were included. Demographics, disease type, and ocular findings were extracted from electronic medical records (EPIC). Statistical analyses included Fisher’s exact test for sex-based comparisons and multivariable logistic regression to assess predictors of eye involvement. A waiver of informed consent was granted (IRB #275349). RESULTS Among 143 screened patients, NF1 accounted for the majority of eye findings in both males (61%) and females (81%). Eye involvement in NF1 was significantly more frequent in females (n=54/70) than in males (n=19/40, p=0.003). Common manifestations included lens opacities, choroidal nodules, and optic nerve abnormalities. No statistically significant sex-based differences were observed in NF2/SWS, TS, or VHL. Logistic regression confirmed sex as the only significant independent predictor of eye involvement (p = 0.007), with no significant effect from disease subtype. CONCLUSION Ophthalmologic manifestations in phakomatoses are common and particularly prominent in adult patients with NF1, with a marked female predominance. This study underscores the importance of routine ocular surveillance in phakomatoses and highlights the need for future prospective, multicenter studies to explore underlying sex-based mechanisms and longitudinal visual outcomes.