Background: Early-onset high myopia (eoHM) associates with multiple ocular and systemic disorders. This study evaluates the repertoire and relative prevalence of these disorders in a tertiary care setting, parses them by eoHM and other characteristics and evaluates the utility of diagnostic workup.
Methods: We performed a retrospective analysis of eoHM cases seen at two US eye centres from 2012 to 2022. eoHM was defined as a myopic refraction requiring glasses when ≤2 years of age and/or a refraction greater than -6D by 6 years of age. We reviewed the extent and outcome of workup, including ocular examination, imaging, electrophysiology, systemic evaluation and genetic testing.
Result: Of 407 patients with eoHM, 39% had an associated ocular disorder, 21% had a systemic disorder and 40% had apparently isolated eoHM (ie, no associated condition). Patients with associated disorders often reported typical presenting complaints but were more likely to be seen earlier in life, to possess severe, symmetric or very asymmetric eoHM and to display other stigmata of visual dysfunction. Patients with connective tissue disorders and select inherited retinal disorders had the most severe and symmetric eoHM compared with other conditions or isolated cases. Electroretinography and genetic testing were critical workup components.
Conclusions: eoHM frequently associates with a wide array of ocular and systemic disorders and may display distinct clinical characteristics depending on the associated condition. Awareness of the range of disorders that present with eoHM, key distinguishing characteristics, the role of timely and targeted workup and the importance of an accurate diagnosis are key considerations.
Aims: To determine the prevalence and clinicopathological features of malignant melanocytic lesions in specimens clinically diagnosed as pterygia.
Methods: This retrospective study analysed all conjunctival specimens submitted with the clinical diagnosis 'pterygium' to the ophthalmic pathology laboratory of the Eye Center, University of Freiburg, Germany, between August 1999 and August 2024. Specimens that unexpectedly revealed a histopathological diagnosis of malignant melanocytic lesions were further reviewed for their clinical and pathological characteristics.
Results: Among 2298 clinically presumed pterygia, seven specimens (0.30%) harboured a malignant melanocytic lesion: four (0.17%) were invasive conjunctival melanomas and three (0.13%) were high-grade conjunctival melanocytic intraepithelial lesions (C-MIL). Three of four melanomas were amelanotic or hypomelanotic (75%) or exhibited atypical temporal localisation (75%).
Conclusion: Malignant melanocytic lesions, though rare, may arise within or mimic pterygia. Their often amelanotic presentation can complicate clinical recognition. Routine histopathological evaluation of all excised pterygia is therefore essential to detect unexpected malignancies as conjunctival melanoma C-MIL.
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