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Purpose: To compare tumor control, vision, and complications between patients with a choroidal melanoma of <10 mm in largest basal diameter (LBD) irradiated with 10-mm or 15-mm ruthenium plaques., Design: Retrospective, comparative case series., Participants: One hundred sixty-four consecutive patients with a choroidal melanoma of <10 mm in LBD, 76 and 88 treated with the 10-mm and 15-mm plaque, respectively, from 1998-2014 in a national ocular oncology service., Methods: Diagnosis was based on growth or high-risk characteristics. The apical dose was 100 to 120 Gy aiming to deliver ≥250 Gy to the sclera. Plaque positioning was modeled retrospectively. An increase of ≥0.3 mm in thickness and ≥0.5 mm in LBD indicated local recurrence. Outcomes were compared with cumulative incidence analysis and Cox regression. Median follow-up time for patients still alive was 8.4 years., Main Outcome Measures: Recurrence rate, low vision, blindness, radiation maculopathy, and optic neuropathy., Results: Melanomas treated with the 10-mm plaque were smaller (median thickness, 1.9 mm vs. 2.6 mm; LBD, 7.1 mm vs. 8.6 mm) and located closer to foveola (median, 2.0 mm vs. 2.8 mm) than those treated with the 15-mm plaque (P < 0.001). The 2 plaques provided a safety margin in 43% versus 40% eyes, provided no safety margin to guard foveola in 17% versus 33%, and did not entirely cover tumor mainly close to the disc in 32% versus 18% of eyes, respectively (P = 0.052). The incidence of a local recurrence was comparable (13% vs. 15% at 10 years; P = 0.31) and associated with plaque positioning (hazard ratio [HR], 2.81 for no safety margin; P = 0.041). At 5 years, the incidence of low vision was 14% versus 24%, and that of blindness was 3% versus 6%. Distance to the foveola was associated with loss of both levels of vision (HR, 0.65 per 1 mm vs. 0.68 per 1 mm; P ≤ 0.001 vs. P = 0.004). The incidence of radiation maculopathy was comparable (19% vs. 18% at 5 years), whereas that of optic neuropathy tended to be higher with the 15-mm plaque (2% vs. 9%; P = 0.054)., Conclusions: The 10-mm ruthenium plaque contributes to better visual preservation, particularly with tumors close to fovea, without increase in local recurrence rate, and may therefore be preferable to the 15-mm plaque., (Copyright © 2020 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To determine the size at which choroidal melanomas can metastasize and to report the characteristics of small fatal choroidal melanomas (SFCM)., Design: Retrospective case series., Methods: Ten ocular oncology services submitted 45 patients with a choroidal melanoma 3 mm or less in thickness and 9 mm or less in largest basal diameter (LBD), when treated, who developed metastases., Results: Median tumor thickness was 2.4 mm (range, 1.0-3.0 mm) and LBD 7.3 mm (range, 3.0-9.0 mm). Of 14 (31%) tumors that were first observed, 12 grew a median of 0.5 mm (range, 0.1-1.2 mm) in thickness and 1.0 mm (range, 0-3.0 mm) in LBD within a median of 7 months; 3 were initially smaller than 3 mm in LBD. Number of risk factors for growth and metastasis was 0 for 4% of the tumors; 60% were over 2 mm in thickness, 63% had subretinal fluid, 84% caused symptoms, 57% had orange pigment, and 92% were within 3 mm of the disc. Local recurrence occurred in 8 of 31 eyes (26%) treated conservatively. Median metastasis-free survival was 4.5 years (range, 0.8-15.7 years). Kaplan-Meier estimate of metastasis developing was 15% (95% confidence interval [CI], 7-26), 51% (95% CI, 36-64) and 85% (95% CI, 71-92) by 2, 5, and 10 years, respectively. By the time of analysis, 37 patients had died of metastasis after a median of 7 months., Conclusions: Choroidal melanomas less than 3.0 mm in LBD are highly unlikely to metastasize. Risk factors of an SFCM are similar to those for all choroidal melanomas of similar size., (Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved.)

Purpose: To report the indications and the outcomes of keratoplasties in children over four decades., Methods: A retrospective cohort study of patients aged 16 years or younger who underwent keratoplasty in the Helsinki University Eye Hospital during 1968-2011. Diagnosis, preoperative status, age at the time of surgery, surgical technique, complications and follow-up time were registered. Main outcome measures were visual acuity and graft survival as assessed by Kaplan-Meier analysis. The independent role of risk factors on outcomes was evaluated by Cox multivariate regression analysis., Results: Forty-eight keratoplasties, 42 penetrating and six lamellar, were performed in 44 eyes of 39 children at the age of 4.5 months to 16 years (median, 12 years). Five patients had bilateral grafts, and five grafts were regrafts. The indication for keratoplasty was injury for 13 grafts, non-traumatic acquired corneal opacities for 11, keratoconus for eight, corneal dystrophy for seven, congenital corneal opacities for six and aniridia for three grafts. The cumulative proportion of clear grafts was 46% at 5 years postoperatively, and the median follow-up time of clear grafts was 5.1 years (range, 0.4-29 years) for 41 penetrating allografts (PKP). Simultaneous intraocular surgery at the time of grafting [hazard ratio (HR) 9.7], corneal vascularization (HR 8.1) and regrafting (HR 5.4) were the main independent risk factors for graft failure in this PKP cohort. The cumulative proportion of clear grafts was 84% at 5 years in the absence of any of these risk factors. PKP for keratoconus and corneal dystrophy yielded clear grafts in 83% of the eyes, and a visual acuity ≥0.3 (Snellen) in 75% of the eyes. Seventeen of the 20 graft failures were due to rejection., Conclusions: Favourable graft survival was obtained in primary keratoplasties for non-vascularized corneal opacities performed without any other simultaneous intraocular surgery. Visual outcome was favourable in keratoconus and corneal dystrophies and poor in most eyes with injury., (© 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Purpose: To compare ocular findings in eyes with primary open-angle glaucoma (POAG) and exfoliation glaucoma (EG) at the time of diagnosis when identical diagnostic criteria for glaucoma were applied., Methods: We conducted a study on records of 519 consecutive, unselected patients with chronic glaucoma filing for cost-free medication from the Finnish National Social Insurance Institute (FSII). Fourteen cases were excluded for having other types of glaucoma. The documents were provided by eye hospitals or by licensed ophthalmologists. The criteria for glaucoma were set by the Parliament of Finland and applied by FSII. A total of 329 patients had POAG and 176 had EG. The main outcome measures were best-corrected visual acuity (BCVA), intraocular pressure (IOP), cup-to-disc ratio of the optic nerve head (C/D), and glaucomatous changes of the visual fields (VF)., Results: As regards sex, the 2 groups were comparable: 66% female with POAG and 68% with EG. The EG patients were older (mean ± SD 74 ± 8.6 years) vs POAG (68 ± 11.4 years). The EG eyes had slightly lower BCVA. The POAG eyes had mean intraocular pressure (IOP) 24 ± 5.4 mm Hg. A total of 12% in this group had highest IOP of less than 18 mm Hg (low-tension glaucoma [LTG]) but there were none of EG. All EG eyes had a mean IOP 28.3 ± 9.3 mm Hg. Among EG patients, 26% had unilateral disease, with a mean IOP of 33.7 ± 8.7 mm Hg, while the opposite eyes had a mean of 19 ± 3 mm Hg. There was not much difference in the C/D ratios of POAG and EG eyes and the VF profiles were similar., Conclusions: At diagnosis, patients with EG were older than those with POAG and had higher mean IOP values. Among patients with POAG, there were 12% with LTG, but none among EG. A total of 26% among EG had unilateral disease with marked IOP asymmetry. The C/D and VF profiles were similar because the patients had been seen early in the disease course. Early recognition and lifelong most effective therapy of EG are strongly advocated.

Purpose: To describe four Finnish families with epithelial recurrent erosion dystrophy (ERED) caused by the pathogenic variant c.3156C>T in collagen type XVII alpha 1 chain gene (COL17A1). Methods: Eleven affected and two unaffected individuals underwent clinical ophthalmological examination, anterior segment photography, and corneal topography. Two of them underwent phototherapeutic keratectomy (PTK). Genetic analysis included both next‐generation and Sanger sequencing. Specimens from the manual keratectomy of one patient were available for ophthalmic pathologic examination, including immunohistochemistry. Results: The common splice‐site altering synonymous variant c.3156C > T, p.(Gly1052=) in COL17A1 was confirmed in 15 individuals with ERED from the four families. Subepithelial corneal scarring grades varied and increased with age, leading to decreased best‐corrected visual acuity. PTK improved vision in 58‐ and 67‐year‐old individuals without reactivating the disease. The keratectomy specimens showed an uneven epithelium and a spectrum of basement membrane abnormalities, including breaks, fragmentation, multiplication and entrapment within the subepithelial scar, reflecting recurrent erosions. The stromal cells consisted of varying proportions of bland and activated fibroblasts and myofibroblasts, reflecting different ages of scars. The family with the largest number of known affected generations originated from Southern Sweden. Conclusion: The phenotype in the Finnish ERED families is consistent with earlier reports of the c.3156C > T variant, although the severity has varied between reports. The phenotype may be modulated by other genes. This study suggests a likely founder effect of the variant in both Finnish and Swedish populations due to their shared population histories. If vision is compromised, PTK can be considered especially in older patients. [ABSTRACT FROM AUTHOR]

Background: Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. We sent an updated questionnaire concerning the symptoms and signs, symptomatic treatments and subjective perception on disease progression to 240 members of the Finnish Amyloidosis Association (SAMY). We analyzed the lifespan of 478 patients using the relative survival (RS) framework.Results: The updated FIN-GAR registry includes 261 patients. Symptoms and signs corresponding to the classical triad of ophthalmological (dry eyes in 93%; corneal lattice amyloidosis in 89%), neurological (numbness, tingling and other paresthesias in 75%; facial paresis in 67%), and dermatological (drooping eyelids in 86%; cutis laxa in 84%) manifestations were highly prevalent. Cardiac arrhythmias were reported by 15% of the patients and 5% had a cardiac pacemaker installed. Proteinuria was reported by 13% and renal failure by 5% of the patients. A total of 65% of the patients had undergone a skin or soft tissue surgery, 26% carpal tunnel surgery and 24% at least unilateral cataract surgery. As regards life span, relative survival estimates exceeded 1 for males and females until the age group of 70-74 years, for which it was 0.96.Conclusions: AGel amyloidosis causes a wide variety of ophthalmological, neurological, cutaneous, and oral symptoms that together with repeated surgeries cause a clinically significant disease burden. Severe renal and cardiac manifestations are rare as compared to other systemic amyloidoses, explaining in part the finding that AGel amyloidosis does not shorten the life span of the patients at least for the first 75 years. [ABSTRACT FROM AUTHOR]

Purpose Methods Results Conclusion To describe clinical characteristics in Finnish patients with X‐linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype correlations.A retrospective cohort study reviewed medical records from patients with genetically confirmed XLRS from the Department of Ophthalmology, Helsinki University Hospital. Best‐corrected visual acuity (BCVA), refraction, colour fundus photography, spectral‐domain optical coherence tomography and genetic information were collected.Fifty‐two males were diagnosed at the median age of 7 years (range 1–57) and followed for a median of 8 years (range, 1–49). Baseline findings included macular retinoschisis in 92 (89%), macular atrophy in 25 (24%) and peripheral retinoschisis in 22 (21%) eyes. Vitreous haemorrhage occurred in 10 (10%) eyes, more frequently with peripheral schisis (p < 0.001). Nearly half of the patients, 22 (42%) were classified as visually impaired according to WHO. Median central retinal thickness was similar between initial (355 μm) and latest visits (360 μm) (p = 0.781). Low BCVA was associated with macular atrophy (p < 0.001), ellipsoid zone disruption (p = 0.007) and peripheral retinoschisis (p = 0.006). The three Finnish founder mutations c.214G >A, c.221G >T, and c.325G >C in exon 4 of retinoschisin 1 (RS1) were identified in 40 patients (77%). No associations were found between the genotypes and phenotypes.Three‐fourths of the patients carried the Finnish founder mutations in RS1, but we did not detect any genotype–phenotype association. Macular atrophy was associated with the poorest visual acuity. Ocular compilations were associated with peripheral retinoschisis, suggesting that these patients should be followed more frequently. [ABSTRACT FROM AUTHOR]

Objective: To determine the ophthalmologic findings, especially the nature of retinal vascular changes, and their clinical significance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disease that causes migraine, recurrent strokes, and finally subcortical vascular dementia. Design: Cross-sectional study. Participants: Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, and 3 in a dementia group), all with the R133C NOTCH3 mutation and including one homozygous patient, underwent a detailed ophthalmologic examination. Methods: Common cardiovascular risk factors were evaluated. Ophthalmologic examination included best-corrected visual acuity, anterior- and posterior-segment biomicroscopy, and measurement of intraocular pressure. In 33 patients and 16 healthy controls (20–64 years old), retinal fundus photographs were taken. Diameters of all arterioles and venules located in the area from 0.5 to 1.0 disc diameters from the optic disc margin were measured with a computer-based program and arteriole-to-venule (A/V) ratios were calculated from digitized photographs. Results: General arterial narrowing and arteriovenous nickings were common. Straightening of the retinal arterioles and a marked wall reflex (n = 6) occurred. The A/V ratio of CADASIL patients was significantly (P< 0.001) lower than that of controls. One patient had one retinal microinfarct and hemorrhages. The homozygous patient had a chorioretinal scar as a sign of circulatory deficiency. Anterior-segment changes included mild iris atrophy (n = 5) and various degrees of lens opacities. Visual acuity was normal in all but 2 patients, who had cataract and amblyopia. Conclusions: The generalized arteriopathy of CADASIL causes a wide variety of changes in retinal arterioles but only minimal functional disturbances. These findings are consistent with alterations in arterioles in the cerebral cortex with which the retina and its arterioles are analogous, but contrast with the severe damage of cerebral white matter arterioles. [Copyright &y& Elsevier]