Review of Eye Injuries Associated With Dermatologic Laser Treatment.

BACKGROUND: The eye is susceptible to damage during dermatologic laser treatments. OBJECTIVE: Discuss the anatomy of the eye related to these procedures, the principles of laser-eye interactions, and ocular injuries reported with dermatologic laser treatments. METHODS: PubMed and Embase searches were conducted to identify cases of eye injuries associated with dermatologic laser treatments. RESULTS: One hundred nineteen cases of eye injury associated with dermatologic laser treatments were identified. Fifty-nine cases targeted the eyelid during resurfacing and caused ectropion, while 60 cases resulted from direct injury of ocular structures. In most of the cases of the latter, improper eye protection was used (44 of 60, 73%). In nearly all these cases, it was the patient who sustained a potentially avoidable ocular injury (52 of 60, 87%). Thirty-one patients had persistent ocular symptoms at follow-up (52%). The most common procedure in this context was laser hair removal of the face (35 of 60, 58%). Most of the cases developed injuries specific for the particular laser based on its wavelength and affinity to target certain ocular chromophores (59 of 60, 98%). CONCLUSION: Most of the dermatologic laser-associated eye injury cases have occurred in the context of laser resurfacing or laser hair removal and are potentially preventable.

Practice Preferences: Temporal Artery Biopsy versus Doppler Ultrasound in the Work-Up of Giant Cell Arteritis.

To determine whether temporal artery biopsy (TABx) or Doppler ultrasound (US) of the temporal artery is the preferred confirmatory test for giant cell arteritis, an online survey of ophthalmologists and neurologists in North America, Europe and Israel was conducted in 2019; Canadian rheumatologists were also included. There were 406 survey participants with an estimated survey response rate of 18%. Ninety-four per cent of North American practitioners preferred TABx compared with 74% of their European counterparts. Two per cent of North American practitioners preferred Doppler US versus 24% of European physicians. Regional differences were statistically significant (p < .001).

Closing the Gender Gap Among Canadian Ophthalmology Societies.

OBJECTIVE: To evaluate gender distribution in Canadian ophthalmology societies' leadership and to determine associations between gender, academic productivity, and institutional rank. METHODS: We identified members and assessed their gender composition using publicly available updated webpages. SCOPUS database was used to gather research metrics. RESULTS: In this study, data was collected from 12 Canadian ophthalmology societies, which included 277 executive committee members. Of these, 70.5% (196) were male and 29.1% (81) were female (p < .0001). Males were significantly more prevalent in presidential leadership roles (39 males vs. 23 females, p = .02), while females were more represented in other leadership categories (77 females vs. 61 males, p = .03). The Canadian Ophthalmological Society (COS) showed an upward trend in female representation from 19.2% in 2016 to 42.3% in 2021. Research productivity showed a positive correlation with society leadership rank, with a correlation coefficient of 0.732 for the m-index (p < .001) and 0.356 for the h-index (p < .05). Academic rank was also positively correlated with society leadership rank, with a correlation coefficient of 0.536 (p < .001). There was no significant difference in h-index (12.7 ± 1.0 for males vs. 13.8 ± 1.5 for females, p = .85) or number of publications (48.6 ± 5.1 for males vs. 60.0 ± 11.3 for females, p = .83) between male and female executive members, but females had a higher m-index (0.67 ± 0.05) compared to males (0.58 ± 0.03, p < .05). In academic rank, males were more likely to be associate professors (25% vs. 5% for females, p = .0001) or instructors (14.8% vs. 6.3% for females, p = .05), while a higher proportion of females held assistant professor positions (47.5% for females vs. 30.1% for males, p = .006). CONCLUSION: In this study, we found that males were more prevalent in executive positions, particularly in presidential roles among Canadian ophthalmology societies. The gender distribution in leadership reflected the gender composition of practicing ophthalmologists in Canada. There was a positive correlation between research productivity and society rank, as well as academic position and society rank. Male and female executive members had similar h-index and number of publications, but females had a higher m-index. These findings highlight the need for continued efforts to address gender disparities in ophthalmology leadership.

Response of 21 Hyaluronic Acid Fillers to Recombinant Human Hyaluronidase.

Background: One benefit of hyaluronic acid fillers is the ability to dissolve them using hyaluronidase. With the increasing number of fillers entering the market, it is crucial to understand each of these fillers' responsiveness to hyaluronidase. Methods: Twenty-one hyaluronic acid fillers of 0.2 mL aliquots each were placed on slides. Twenty units of recombinant human hyaluronidase were injected into the aliquots every 30 minutes for a total of 120 units recombinant human hyaluronidase injected over 3 hours. With each injection, videos and photographs were taken from bird's eye and lateral views to measure aliquot height. Stirring videos were graded by three oculoplastic surgeons, and these grades were used to categorize each filler's responsiveness. Results: Restylane Lyft, Restylane-L/Eyelight, and Resilient Hyaluronic Acid (RHA) 1/Redensity were the least resistant. The moderately resistant group comprised of Restylane Silk, Juvéderm Volbella, Revanesse Versa/Lips, and Belotero Balance on the less resistant side to Juvéderm Vollure, RHA 2, Restylane Contour, Juvéderm Ultra, Restylane Refyne, Belotero Intense, Restylane Kysse, RHA 3, Juvéderm Ultra Plus, and Restylane Defyne on the more resistant side. The most resistant were RHA 4, Juvéderm Voluma, Belotero Volume, and Juvéderm Volux. The most resistant fillers required 120 units of hyaluronidase per 0.2 mL filler to dissolve. Conclusions: With the increasing popularity of fillers comes the increasing need to dissolve them for both ischemic and nonischemic complications. The majority of hyaluronic acid fillers available on the market are very resistant to hyaluronidase, which must be considered when determining the amount of hyaluronidase to dissolve a particular filler.

Navigating Personal and Professional Development Through Social Media in Ophthalmology.

Background: Although social media use among physicians skyrocketed during the COVID-19 pandemic, its role for networking, mentorship, and support among ophthalmologists remains unknown. The objective of this study was to elucidate how ophthalmologists use social media for navigating challenges related to personal and professional development. Methods: This was a cross-sectional survey study conducted during the height of the COVID-19 pandemic. A 40-item questionnaire investigating the usage of social media was developed and distributed to active social media users in ophthalmology including trainees and practitioners from November 2020 to December 2020 via social media channels. Quantitative responses were analyzed using descriptive and basic statistics, while a thematic analysis was conducted to examine the qualitative responses. Results: One hundred and forty-nine respondents (67% women) completed the survey, with 56% of participants between the ages of 25-35 years old. Women were more likely to report experiencing workplace discrimination (p < 0.005) and work-life imbalance (p < 0.05) compared to men, and social media was found to be useful in addressing those challenges in addition to parenting and mentorship (p < 0.005 and p < 0.001, respectively). Compared to their older counterparts, younger ophthalmologists (<45 years old) cited more challenges with practice management (p < 0.005) and turned to social media for corresponding guidance (p < 0.05). Compared to late career ophthalmologists, trainees were more likely to report difficulties with career development (p < 0.05), practice management (p < 0.0001), and financial planning (p < 0.05), and found social media beneficial for learning financial literacy (p < 0.05). A qualitative analysis of the free-response texts found both positive and negative viewpoints of social media use in ophthalmology. Conclusion: Social media is an invaluable tool for enhancing professional and personal growth for ophthalmologists, particularly for women, trainees, and younger surgeons through education and community-building. Future directions include exploring how social media can be used to improve mentorship, outreach, and training in ophthalmology.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

PURPOSE: Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. METHODS: Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected individuals (two sets of siblings), five unaffected family members, and 80 healthy controls. Patient samples containing heteroduplexes were selected for sequence analysis. Base pair changes in SOX2 and CHX10 were confirmed by sequencing bidirectionally in patient samples. RESULTS: Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort. Mutation c.310 G>T (p. Glu104X), found in one patient, was in the region encoding the high mobility group (HMG) DNA-binding domain and resulted in a change from glutamic acid to a stop codon. The second mutation, noted in two affected siblings, was a single nucleotide deletion c.549delC (p. Pro184ArgfsX19) in the region encoding the activation domain, resulting in a frameshift and premature termination of the coding sequence. The shortened protein products may result in the loss of function. In addition, a novel nucleotide substitution c.*557G>A was identified in the 3'-untranslated region in one patient. The relationship between the nucleotide change and the protein function is indeterminate. A known single nucleotide polymorphism (c. *469 C>A, SNP rs11915160) was also detected in 2 of the 34 patients. Screening of CHX10 identified two synonymous sequence variants, c.471 C>T (p.Ser157Ser, rs35435463) and c.579 G>A (p. Gln193Gln, novel SNP), and one non-synonymous sequence variant, c.871 G>A (p. Asp291Asn, novel SNP). The non-synonymous polymorphism was also present in healthy controls, suggesting non-causality. CONCLUSIONS: These results support the role of SOX2 in ocular development. Loss of SOX2 function results in severe eye malformation. CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort.

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

PURPOSE: Anophthalmia and microphthalmia (A/M) are rare congenital ocular malformations presenting with the absence of eye components or small eyes with or without structural abnormalities. A/M can be isolated or syndromic. The stimulated by retinoic acid gene 6 (STRA6) and Sloan-Kettering viral oncogene homolog (SKI) genes are involved in vitamin A metabolism, and are implicated with A/M developmental abnormalities in human and animal studies. Vitamin A metabolism is vital to normal eye development and growth. This study explores the association of these genes in a cohort of subjects with A/M. METHODS: STRA6 and SKI were screened for sequence variants by direct sequencing of genomic DNA samples from 18 affected subjects with A/M. The DNA samples of 4 external, unrelated controls were initially screened. Eighty-nine additional unrelated controls were screened to confirm that any sequence variants found in the affected subject DNA samples were related to the phenotype. Coding regions, intron-exon boundaries, and untranslated regions were sequenced by standard techniques. Derived DNA sequences were compared to known reference sequences from public genomic databases. RESULTS: For STRA6, a novel coding non-synonymous sequence variant was found in one subject, resulting in an amino acid change from glycine to glutamic acid in residue 217. One novel nonsense sequence variant found in the same subject changed the STRA6 amino acid residue 592 from cytosine to thymine resulting in a premature stop codon. For SKI, a known coding non-synonymous sequence variant (rs28384811) was found in 3 subject DNA samples and 11/89 control DNA samples. Four novel coding-synonymous sequence variants were observed in SKI. CONCLUSIONS: The STRA6 sequence variants reported in this study could play a role in the pathogenesis of A/M by structural changes to the STRA6 protein. We can attribute 4% A/M incidence in this cohort to these sequence variants. Although no SKI sequence variants were found in this cohort, SKI should not be ruled out as a candidate gene for A/M due to the small cohort size.

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband.

Adenocarcinoma of the Retinal Pigment Epithelium Arising in Conjunction with Late Recurrence and Systemic Metastasis of Retinoblastoma.

In 1974, an 8-month-old male was diagnosed with bilateral retinoblastoma. His left eye was enucleated, while the right eye was salvaged with a combination of external beam radiotherapy (4,000 cGy total, divided in 20 fractions) and retinal laser treatment. Thirty-nine years later, he developed intraocular recurrence of retinoblastoma with extrascleral spread. Histopathological examination also identified a second distinct malignancy, retinal pigment epithelium adenocarcinoma, arising in continuity with the retinoblastoma. Further investigation revealed foci of metastatic retinoblastoma in his parotid gland. He was subsequently treated with a combination of orbital exenteration, extensive neck dissection, and resection of metastatic foci, followed by a high-dose ablative chemotherapeutic regimen consisting of cisplatin, vincristine, and cyclophosphamide. Although very rare, late recurrence of retinoblastoma with systemic metastasis is possible, and continued clinical observation and appropriate long-term follow-up should be considered. Additionally, it is important to consider a second primary intraocular tumor in the differential diagnosis, especially in a patient with heritable retinoblastoma who has undergone radiation therapy.

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

OBJECTIVE: To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS: Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the study. We conducted a retrospective analysis of ophthalmologic data obtained through survey responses and medical records. The severity of nasolacrimal duct obstruction, myopia, ptosis, and strabismus was classified. The severity of eye findings was compared relative to the presence vs the absence of mutations in the coding region of NIPBL and relative to mutations predicted to result in a truncated protein (nonsense and frameshift mutations) vs missense mutations. Fisher exact test was used to determine the significance of these correlations. RESULTS: A trend toward increased ptosis severity was found among individuals with truncating (nonsense and frameshift) mutations compared with individuals with missense mutations (P = .07). CONCLUSION: NIPBL may be directly involved in ptosis pathogenesis. CLINICAL RELEVANCE: Elucidating the pathogenetic mechanisms of ophthalmologic morbidities in patients with de Lange syndrome may lead to more effective treatment.