Erdheim-Chester disease with chorioretinal and orbital involvement: a case report / Doença de Erdheim-Chester com envolvimento coriorretiniano e orbitário: relato de caso

ABSTRACT A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

RESUMO Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.

Clinical Features, Treatment, and Visual Outcomes of Posterior Scleritis from Tertiary Eye Care Center.

PURPOSE: To describe the epidemiological and clinical features and course of patients with posterior scleritis (PS). METHODS: This retrospective, cross-sectional consecutive case series analyzed the medical records of 16 patients diagnosed with PS. RESULTS: Female gender and unilateral involvement were dominant. Blurred vision (84.21%) and ocular pain (78.95%) were the most common presenting complaints. Serous retinal detachment was the most common ocular finding (84.21%), followed by optic disc swelling (42.11%). Increased scleral thickness was observed in all patients, although a T-sign was detected 8 of 19 eyes (42.1%). Recurrence occured in 5 of 19 eyes in mean 30.2 ± 34.7 months. Central macular thickness, choroidal thickness, and retinal nerve fiber layer thickness were reduced with treatment at final examination significantly (p = .005, .002, and .002, respectively). CONCLUSIONS: PS should be considered in patients presenting with unilateral ocular pain and decreased vision. Not only USG findings but also OCT findings are very useful in the follow-up of treatment response.

Changes in corneal high order aberrations and anterior chamber parameters following scleral fixated intraocular lens implantation.

BACKGROUND: To evaluate the change in corneal high order aberrations (HOAs) and anterior chamber parameters following scleral fixation in aphakic patients using the Scheimpflug camera system. METHODS: This retrospective study included patients who were aphakic after phacoemulsification surgery and underwent scleral-fixed intraocular lens (SF-IOL) implantation with Z suture technique between 2010 and 2022. Preoperative and postoperative best corrected visual acuity (BCVA), anterior segment parameters and corneal aberrations were evaluated with a combined Scheimpflug-Placido disk corneal topography device (Sirius Costruzione Strumenti Oftalmici, Florence, Italy). The following values were recorded: Simulated keratometry (SimK), flat meridian (K1), steep meridian (K2), iridocorneal angle (ICA), temporal anterior chamber angle (T-ACA), nasal anterior chamber angle (N-ACA), horizontal anterior chamber diameter (HACD), anterior chamber volume (ACV), corneal volume (CV), total Root Mean Square (RMS), high order aberrations (HOAs), spherical aberration, coma, trefoil, quadrifoil, and secondary astigmatism. RESULTS: The study included 31 eyes of 31 patients (mean age: 63.00 ± 19.41 years, 17 males/14 females). Postoperative BCVA was better than preoperative BCVA (p = 0.012). Postoperatively, there was a statistically significant increase in ACV and CV values and a statistically significant decrease in K2 (p = 0.009, p = 0.032, p = 0.015). Preoperative T-ACA and preoperative and postoperative ACV were negatively correlated with postoperative intraocular pressure (r=-0.427 p = 0.033, r=-0.406 p = 0.032 and r=-0.561 p = 0.001). There were statistically significant postoperative increases in corneal RMS, trefoil and HOAs for 3 mm pupil diameter (p = 0.0177, p = 0.001, p = 0.031) and in corneal RMS, trefoil and quadrifoil aberrations for 6 mm pupil diameter (p = 0.033, p = 0.001, p = 0.001). CONCLUSIONS: In conclusion, SF-IOL implantation with Z-suture technique used for visual rehabilitation of aphakic patients may affect visual quality by increasing corneal HOAs while improving visual acuity.

Erdheim-Chester disease with chorioretinal and orbital involvement: a case report.

A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

Wilson Disease Combined with Keratoconus: A Case Report.

A case of Wilson disease (WD) combined with keratoconus (KC) is described. A 30-year-old male diagnosed with WD presented to Ophthalmology Department due to progressive bilateral vision loss. Biomicroscopy revealed copper depositional ring and mild central corneal ectasia in both eyes. The patient had essential tremors and mild speech disturbance. The keratometric values were K1 = 45.94 diopters (D), K2 = 49.10 D in the right eye, and K1 = 47.14 D, K2 = 51.22 D in the left eye. The maximal elevation points on the posterior elevation maps were 98 mm for the right eye and 94 mm for the left eye. The typical KC pattern was seen on corneal topography bilaterally. Based on these findings, the patient was diagnosed with KC, and corneal cross-linking treatment was recommended. WD rarely occurs in combination with KC, and only two cases have been reported; this is the third case of WD combined with KC so far.

Choroidal vascular index in cystoid macular edema associated with retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is an inherited degenerative disease characterized by night blindness (nyctalopia), visual field defects, and varying degrees of vision loss. Choroid tissue has an essential role in the pathophysiology of many chorioretinal diseases. The choroidal vascularity index (CVI) is a choroidal parameter obtained as the ratio of the luminal choroidal area to the total choroidal area. The study aimed to compare the CVI of RP patients with and without CME with each other and with healthy individualsAU: Please confirm that the provided email ''ademoztel@hotmail.com" is the correct address for official communication, else provide an alternate e-mail address to replace the existing one.. METHODS: A retrospective, comparative study of 76 eyes of 76 RP patients and 60 right eyes of 60 healthy subjects was conducted. The patients were divided into two groups: those with and those without cystoid macular edema (CME). The images were obtained using enhanced depth imaging optical coherence tomography (EDI-OCT). CVI was calculated by using the binarization method with ImageJ software. RESULTS: The mean CVI was significantly lower in RP patients compared to the control group (0.61±0.05 and 0.65±0.02, respectively, p<0.01). The mean CVI in RP patients with CME was significantly lower than in those without CME (0.60±0.54 and 0.63±0.35, respectively, p=0.01) The CVI was positively correlated with subfoveal choroidal thickness (r=0.74, p=0.001), central macular thickness (r=0.27, p<0.001) and visual acuity (logMAR) (r=-0.23 p=0.03) in RP patients. CONCLUSIONS: The CVI is lower in RP patients with CME than in patients without CME and in RP patients compared to healthy subjects, indicating an ocular vascular involvement in the pathophysiology of the disease and the pathogenesis of RP-associated cystoid macular edema.

Optic disc tilt and rotation effects on positions of superotemporal and inferotemporal retinal nerve fibre layer peaks in myopic Caucasians.

CLINICAL RELEVANCE: In myopic eyes, the optic disc may become tilted and rotated, making glaucoma diagnosis more difficult. BACKGROUND: To determine the presence of tilted optic disc, the degree of optic disc rotation, and their effects on the angular location of superotemporal and inferotemporal retinal nerve fibre layer (RNFL) peaks in healthy myopic Caucasians. METHODS: Non-glaucomatous healthy myopic Caucasian eyes with an axial length > 24 mm were evaluated. ImageJ was used to quantify optic disc tilt and torsion on red-free fundus photography. The RNFL was scanned using spectral-domain optical coherence tomography. The angle of the superotemporal and inferotemporal peaks with the vertical-horizontal meridian was measured. RESULTS: Fifty-four eyes of 54 individuals were evaluated. The axial length was correlated with the angular location for both the superotemporal (r = -0.549, p < 0.001) and inferotemporal (r = -0.415, p = 0.002) RNFL peaks; they were placed more temporally in eyes with higher axial lengths. For each 1 mm increase in axial length, the angle between the superotemporal peak and the temporal horizontal meridian decreased by 3.976°, and the angle between the inferotemporal apex and the temporal horizontal meridian decreased by 3.028°. The angle between the inferotemporal peak and the temporal horizontal meridian decreased by 0.231° for each 1° increase in optical disc torsion (R2 = 0.09 Regression coefficient = -0.231, p = 0.027). CONCLUSIONS: The temporal shift of superior and inferior peaks, the thickening of temporal and nasal RNFL, the presence of tilted optic disc, and optic disc rotation may cause misinterpretation of the RNFL in myopic Caucasians. When evaluating peripapillary RNFL thickness in myopic individuals, it would be better to consider these to avoid misinterpretation.

Changes in anterior chamber dimensions following small incision lenticule extraction (SMILE).

PURPOSE: To evaluate the changes in anterior chamber dimensions including horizontal anterior chamber diameter (HACD), anterior chamber depth (ACD), and iridocorneal angle (ICA) following small incision lenticule extraction (SMILE) using Scheimpflug-Placido disk tomographer (Sirius). METHODS: The records of the 73 eyes of 47 patients who received SMILE for myopia and myopic astigmatism were retrospectively reviewed. Preoperative and 6-month postoperative measurements of central corneal thickness (CCT), HACD, ACD, ICA, nasal anterior chamber angle (nACA), and temporal anterior chamber angle (tACA) were obtained by tomography, and compared with paired t-tests. Pearson's correlation and linear regression tests were used to evaluate the relationship between these parameters. RESULTS: The CCT, HACD, and ACD values decreased significantly at 6-month postoperatively (p < 0.05 for all). ICA, nACA, and tACA showed no statistically significant difference postoperatively (p = 0.54, p = 0.118, and p = 0.255, respectively). Pearson's correlation analysis confirms negative relationship between Δ-HACD and Δ-tACA (r = -0.475, p < 0.01), and a loose negative relationship between change in ACD and change in ICA (r = -0.282, p = 0.016). Age and Δ-tACA were found as predictive parameters for Δ-HACD and, Δ-ICA was a predictor for Δ-ACD. CONCLUSION: While HACD and ACD decreased significantly, there was no significant change in ICA, nACA and tACA. Changes in HACD and ACD should be considered in terms of subsequent surgeries after SMILE.

Treatment of convergence insufficiency type intermittent exotropia with bupivacaine injection to the medial rectus combined with lateral rectus recession.

PURPOSE: To evaluate the outcomes of combined bupivacaine HCL (BPX) injection in the medial rectus (MR) muscle with recession of the lateral rectus muscle in the treatment of convergence insufficiency-type intermittent exotropia (CI-IXT). METHODS: The medical records of patients who underwent combined injection-recession treatment from January 2019 to January 2020 for CI-IXT were reviewed retrospectively along with a group of age-matched controls with IXT without CI who underwent only unilateral LR recession during the same period. The following data were extracted from the record: age at surgery, average follow-up period, angle of deviation at distance and near and the difference between them before and after surgical procedure, correction of near and distance deviations, and recession dosage. Successful outcome was defined as a distance deviation in primary gaze between ≤10Δ of exophoria/tropia and ≤5Δ of esophoria/tropia. RESULTS: A total of 10 patients and 20 controls were included. Average follow-up was 13.9 ± 3.67 months in the BPX group and 15.9 ± 3.61 months in the control group (P = 0.17). Postoperative distance deviation measured 8.30Δ ± 5.88Δ in the BPX group and 14.67Δ ± 9.83Δ in the control group (P = 0.80). Distance-near differences were significantly reduced in the CI-IXT group receiving BPX, by a mean of 6.60Δ, from a preoperative mean of 10.50Δ ± 3.65Δ to 3.90Δ ± 3.26Δ (P < 0.01). CONCLUSIONS: BPX injection combined with unilateral lateral rectus recession yields outcomes comparable to bilateral lateral rectus recession for distance deviations, and results in reduction of the distance-near difference in the angle of exotropia.

Is COVID-19 Infection a Trigger for Herpetic Stromal Keratitis?

In June 2020, a 28-year-old female patient was admitted to our clinic with reduced vision in the left eye. She had systemic COVID-19 infection in May 2020 and during her treatment course, her visual complaints had begun approximately 1 week after the beginning of the COVID-19. Previously, the patient had bilateral femtosecond assisted - Laser in situ Keratomileusis in our clinic in 2018. There was no previous history of herpetic eye involvement. In her examination, the uncorrected visual acuity was 20/20 in the right and 20/32 in her left eye. Slit-lamp examination revealed interlamellar infiltration at the flap interface in the left eye. Considering herpetic activation, ganciclovir ointment 5 × 1, valacyclovir tablet 2 × 1, and prednisolone acetate 1.0% eye drops 5 times a day and artificial tear 5 × 1 were started. Two weeks later, the infiltration completely resolved and the uncorrected visual acuity increased to 20/20.

Do We Conform with European Glaucoma Society Guidelines in the Medical Treatment of Primary Open-Angle Glaucoma/Ocular Hypertension? Data from a Real-Life Practice.

Purpose: To evaluate the prescribing habits of glaucoma specialists and of general ophthalmologists, and reveal the conformance with European Glaucoma Society (EGS) guidelines in the medical treatment of primary open-angle glaucoma (POAG) and ocular hypertension (OHT). Methods: Patients receiving medical treatment for POAG/OHT in the glaucoma clinic comprised the "naive group." Patients having a diagnosis and a treatment for POAG/OHT initiated in another center before presentation comprised the second group and were named as "treatment initiated elsewhere" (TIEW). All patients were retrospectively evaluated from the patients' charts. The outcome measures included the percentage of eyes treated with monotherapy, the molecule groups preferred, and the change in prescription trends over the years in both groups. Results: Seventy-two subjects were included in the naive group and 135 subjects in TIEW group. The rate of monotherapy was 76% and 36% in both groups, respectively. The molecule number was significantly higher in the TIEW group compared with naive group (1.98 ± 0.89 vs. 1.28 ± 0.56, P < 0.001). Until 2003, beta blockers, and in the 2003-2008 period, prostaglandin analogs (PGAs) were the mostly prescribed drugs in glaucoma clinic. From 2009, the rate of PGAs declined, with PGAs being replaced by combination drugs and alfa-2 agonists. Conclusions: Overtreatment rate was high among patients receiving a diagnosis and a treatment by general ophthalmologists, whereas glaucoma specialists were found to conform with EGS guidelines. A shift toward polypharmacy was observed from 2000 to 2017. The common guidelines to evaluate and treat glaucoma need to be adopted by the general ophthalmologists in their real-life practice.