Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.

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.

LASIK for myopia of -9.00 to -17.00 D with the VISX STAR S2: 2- to 5-year follow-up.

PURPOSE: To evaluate long-term results of LASIK in the correction of high myopia. METHODS: Preoperative and early postoperative data, including uncorrected and best spectacle-corrected visual acuity and refraction, were collected retrospectively from 77 eyes of 47 patients who underwent LASIK for myopia of at least -9.00 diopters (D) performed with the VISX STAR S2 excimer laser in our hospital from 1999 to 2003. An additional examination with a satisfaction query was performed 2 to 5 years postoperatively. RESULTS: After 2- to 5-year follow-up, 40% of eyes has a spherical equivalent refraction within 1.00 D of the original intended refraction, 70% within 2.00 D, and 91% within 3.00 D. Only one eye lost two Snellen lines of visual acuity, whereas three eyes gained two lines and the remainder had no significant change. Regression was mild but significant in the long-term, with mean spherical equivalent refraction being -1.21 D at 1 month, -1.82 D at 6 months, and -1.95 D at 2 to 5 years. Stability was similar in a subgroup of eyes followed for at least 4 years. Nine eyes had mild postoperative complications, which resolved without permanent consequences. All patients, except one, were very satisfied with the results and would have chosen the surgery again. CONCLUSIONS: With careful patient selection and safety precautions, LASIK is a safe alternative with moderate stability but limited predictability in the treatment of myopia of -9.00 to -17.00 D.

Photorefractive keratectomy retreatment after LASIK.

PURPOSE: To study the results of late photorefractive keratectomy (PRK) in corneas originally subjected to LASIK. METHODS: Seven eyes of seven patients who had LASIK for myopia were retreated with PRK at least 2 years after LASIK. Uncorrected visual acuity (UCVA), best spectacle-corrected visual acuity (BSCVA), refraction, and haze were evaluated before and after LASIK and after retreatment by PRK. RESULTS: Photorefractive keratectomy retreatment improved BSCVA in six (86%) of seven eyes, and one (14%) eye showed no changes. None of the eyes lost lines of BSCVA. Five of seven eyes developed mild haze, which disappeared before the last postoperative follow-up. CONCLUSIONS: Photorefractive keratectomy retreatment performed at least 2 years after LASIK can improve visual acuity. We hypothesize that LASIK-induced corneal nerve damage disturbs corneal wound healing by increasing the tendency for development of haze.

Dry eye and corneal sensitivity after high myopic LASIK.

PURPOSE: To assess subjective symptoms and objective clinical signs of dry eye and investigate corneal sensitivity after high myopic LASIK. METHODS: Twenty eyes of 20 patients with a mean age of 34 +/- 7.5 years who had undergone high myopic LASIK 2 to 5 years previously and 10 eyes of 10 controls with a mean age of 39.8 +/- 10.4 years were enrolled in the study. Clinical signs of dry eye and subjective dry eye symptoms were determined. The corneal sensitivity was assessed using non-contact esthesiometer. RESULTS: The preoperative spherical equivalent refraction was -11.40 +/- 1.40 diopters (D) (range: -9.10 to -14.00 D) and the intended spherical equivalent refraction correction was -10.40 +/- 1.10 D (range: -8.30 to -12.50 D). Schirmer's test score was 14.4 +/- 8.9 mm in patients and 9.0 +/- 4.2 mm in controls (P = .066). The break-up time was 15.9 +/- 11.2 seconds in patients and 14.0 +/- 10.0 seconds in controls (P = .505). The mean corneal sensitivity was 73.5 +/- 29.6 mL/min in patients and 78.0 +/- 18.7 mL/min in controls (P = .666). The majority (55%) of patients still reported dry eye symptoms. Ocular surface disease index indicating degree of dry eye symptoms was significantly higher in LASIK patients (18.6 +/- 13.4%) compared to controls (7.5 +/- 5.7%; P = .022). CONCLUSIONS: The majority of patients who received LASIK for high myopia reported ongoing dry eye symptoms, although objective clinical signs of tear insufficiency and hypoesthesia were not demonstrable. We assume that symptoms represent a form of corneal neuropathy rather than dry eye syndrome.

Alterations in corneal sensitivity and nerve morphology in patients with primary Sjögren's syndrome.

The aim of the study was to assess subjective symptoms and objective clinical signs of dry eye in relation to corneal nerve morphology and sensitivity in primary Sjögren's syndrome. Twenty eyes of 20 primary Sjögren's syndrome patients and ten eyes of 10 healthy age- and sex-matched controls were included in the study. Ocular surface disease index (OSDI) questionnaire and visual analog scales were used to assess subjective symptoms. The mechanical sensitivity of the central cornea was measured using a modified Belmonte non-contact esthesiometer followed by an analysis of corneal nerve morphology using scanning slit confocal microscopy (ConfoScan 3). OSDI symptom scores were high in primary Sjögren's syndrome patients, compared with controls. Accordingly, the mean corneal detection threshold was low in patients implicating corneal mechanical hypersensitivity (54.5+/-40.1ml/min vs. 85.0+/-24.6ml/min, P=0.036). However, nerve densities were similar, and no correlation was present between corneal sensitivity and nerve density. In contrast, alterations in nerve morphology were found; stromal nerves appeared thicker, and nerve growth cone-like structures were seen in 20% of patients, often associated with dendritic antigen-presenting cells. Sjögren's syndrome patients presented with corneal mechanical hypersensitivity, although corneal nerve density did not differ from controls. However, alterations in corneal nerve morphology (nerve sprouting and thickened stromal nerves) and an increased amount of antigen-presenting cells, implicating the role of inflammation, were observed. These observations offer an explanation for the corneal mechanical hypersensitivity, or even hyperalgesia often observed in these patients. We hypothesize that patients with primary Sjögren's syndrome dry eye suffer from neuropathic corneal mechanical hypersensitivity induced by ocular surface inflammation.

Neurosarcoidosis mimicking Sjögren's syndrome.

PURPOSE: To describe a patient with a long disease history who was finally diagnosed with neurosarcoidosis and to discuss the reasons behind the delayed diagnosis. CASE REPORT: A 58-year-old man with sick sinus syndrome and bradycardia, which was treated with a pacemaker, developed first right and then left facial palsy. Subsequently, multiple cranial nerve palsies developed and later spontaneously resolved. Neurosarcoidosis was suspected at that stage, but excluded because the patient had no typical sarcoid lung changes, his serum and cerebrospinal fluid angiotensin converting enzyme activity levels were normal and a computed tomography scan disclosed no central nervous system changes. During follow-up, the patient developed extremely dry eyes and mouth, suggesting Sjögren's syndrome. Rheumatology consultation did not reveal any autoimmune or visceral features typical of Sjögren's syndrome and autoantibodies were negative. However, both labial salivary gland and conjunctival biopsies revealed non-caseating granulomas, and neurosarcoidosis was diagnosed. CONCLUSIONS: Neurosarcoidosis is a relatively rare disease with a somewhat poor longterm prognosis in one-third of cases, although the neurological manifestations often diminish or disappear in response to glucocorticoid treatment. Diagnosis is often a clinical challenge, especially in the absence of pulmonary changes or other features typical of sarcoidosis. The labial salivary gland and conjunctiva provide helpful biopsy sites for histopathological confirmation of the diagnosis.