Lens Material of the Eyelid Masquerading as Phakomatous Choristoma After Cataract Surgery.

Cataract surgery is the most commonly performed surgery worldwide. While retained lens fragments after cataract surgery are common, to our knowledge, there is no prior case report of the lens material being deposited outside of the eye. Here, we present a case of an elderly patient with an upper eyelid lesion containing a fragment of the basement membrane and proteinaceous lens-like material, initially mistaken as phakomatous choristoma. Phakomatous choristoma is a type of benign congenital tumor consisting of lens tissue, which is thought to be secondary to aberrant migration during lens formation. Upon further review, it was later confirmed to be postoperative capsular material embedded into the eyelid.

Comparative Outcomes of Standard Perioperative Eye Drops, Intravitreal Triamcinolone Acetonide-Moxifloxacin, and Intracameral Dexamethasone-Moxifloxacin-Ketorolac in Cataract Surgery.

Background: Since the advent of cataract surgery, topical eye drops have been the mainstay of postoperative prophylaxis and treatment. Due to factors such as high expenses and poor patient compliance, there has been a growing interest and acceptance of "dropless" or "less drops" alternatives. The purpose of this study is to compare the effectiveness of intravitreal triamcinolone acetonide-moxifloxacin and intracameral dexamethasone-moxifloxacin-ketorolac to a standard eye drop regimen in controlling postoperative inflammation, corneal edema, and intraocular pressure (IOP) among cataract patients. Methods: A retrospective longitudinal comparative study among 619 consecutive eyes receiving either a standard eye drop regimen, intraoperative triamcinolone acetonide-moxifloxacin, or dexamethasone-moxifloxacin-ketorolac was performed between October 2016 and December 2020. Primary endpoints at postoperative day one (POD1), week one (POW1), and month one (POM1) included corneal edema, anterior chamber inflammation (ACI), and IOP. Results: Throughout the postoperative time points, there were no significant differences in corneal edema between intravitreal triamcinolone acetonide-moxifloxacin versus the standard eye drop therapy (OR [95% CI]: 1.09 [0.82, 1.45], P=0.54) and intracameral dexamethasone-moxifloxacin-ketorolac versus the standard eye drop treatment (OR [95% CI]: 1.22 [0.89, 1.67], P=0.22). The postoperative ACI severity was lower in the dexamethasone-moxifloxacin-ketorolac group than in the triamcinolone acetonide-moxifloxacin group by 35% on postoperative day 1 (P=0.01). The differences at subsequent postoperative time points were not statistically significant (P=0.27 and P=1.00 for POW1 and POM1, respectively). IOP at POM1 follow-up visit was statistically significantly higher for the triamcinolone acetonide-moxifloxacin group (mean (±SD): 15.64 (4.26)) than the dexamethasone-moxifloxacin-ketorolac (mean (±SD): 14.16 (4.02)) (P < 0.01). There was no statistical difference in rates of CME (P=0.16), and there were no cases of endophthalmitis. Conclusions: Intravitreal triamcinolone acetonide-moxifloxacin and intracameral dexamethasone-moxifloxacin-ketorolac demonstrate similar levels of efficacy to a standard eye drop regimen after cataract surgery. This study reinforces them as viable alternatives to traditional postoperative drops.

Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.

BACKGROUND: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ERCC6/CSB or ERCC8/CSA genes. Here, we describe two sisters with Cockayne syndrome caused by compound heterozygous mutations in the ERCC8 gene using multimodal imaging. Significant ophthalmic and systemic phenotypic variability is discussed. MATERIALS AND METHODS: Multimodal imaging was performed in two affected sisters and included electroretinography, optical coherence tomography, ultra-wide-field confocal scanning laser ophthalmoscopy, fundus autofluorescence and fluorescein angiography, and magnetic resonance imaging. Genetic analyses were performed on the affected sisters, both parents, and three unaffected siblings. RESULTS: The older sister (Patient 1) had mental retardation, bilateral hearing loss, ataxia, and decreased visual acuity with retinal dystrophy. Radiographic studies revealed microcephaly, cerebral and cerebellar atrophy, ventriculomegaly, and a diffusely thickened skull. Full-field electroretinography waveforms were severely diminished with attenuation of cone and rod responses. The younger sister (Patient 2) had similar clinical features, including ataxia, bilateral hearing loss, and decreased visual acuity with retinal dystrophy. She also had paranoid schizophrenia. Wide-field fundus autofluorescence showed scattered areas of retinal pigment epithelium atrophy, which was different from her sister. Genetic analysis revealed two mutations in the ERCC8 gene shared by the sisters. These include an unreported missense point mutation: p.Thr328Ser:c.983C > G, and another previously reported pathogenic missense mutation: p.Ala205Pro:c.613G > C. Familial testing showed in trans segregation of these mutations with unaffected siblings inheriting one or neither mutation, but not both. CONCLUSION: The clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in the ERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.