In conclusion, novel ALDH1A3 mutations identified in the present study confirm the pivotal role of ALDH1A3 in human eye development. Autistic features, previously reported as an associated finding, were considered to be the result of social deprivation and inadequate parenting during early infancy in the presented families.
No associations appeared between HIF1A SNPs and AMD, which were studied here for the first time; however, polymorphism rs1061170 of the CFH gene is associated with AMD in our population.
Background: Dermoscopy is a fundamental method in the examination of melanocytic neoplasms. Limited data exist about the dermoscopic features of ocular pigmentations (OPs).
Objectives:We aimed to investigate the usefulness of dermoscopy in the examination of OPs.Methods: Dermoscopic images of OPs of 20 consecutive patients were recorded. Impression cytology (IC) was performed to these lesions. Dermoscopic images were evaluated for specific dermoscopic structures and patterns without knowing the cytological examination results.Results: Fifteen percent (3/20) of the lesions presented with suspicious cytological findings. More of the suspicious lesions had 4 colors compared to benign lesions (66.7% vs 11.8%, p=0.088). This was also determined for blue-gray (66.7% vs 11.8%, p=0.088) and white (66.7% vs 17.7%, p=0.14) colors. At least 3 structures were observed in all suspicious lesions (100%), but were observed in only in 41.2% of benign lesions (p=0.105). Besides, two-thirds of suspicious lesions had more than 4 structures, but none of the benign lesions reported this (p=0.016). Most of the benign lesions showed asymmetry in one axis (93.3%), whereas all suspicious lesions showed asymmetry in 2 axes (p=0.004).Conclusions: Dermoscopy seems to be a useful method in the evaluation of OPs. The existence of dermoscopic patterns, colors, and dermoscopic structure plurality and asymmetry raise suspicion in OPs, similarly to skin pigmentations. Dermatologists should be aware of the ocular area, and closer collaboration should be developed between dermatologists and ophthalmologists in the management of pigmented lesions.
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