Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.

Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy. These conditions are distinguished by bilateral and relatively symmetrical abnormalities in the macula that significantly impair central visual function. Recent strides in fundus imaging, especially optical coherence tomography (OCT), have enhanced our comprehension and diagnostic capabilities for MD. OCT enables the identification of neurosensory retinal disorganization patterns and the extent of damage to retinal pigment epithelium (RPE) and photoreceptor cells in the dystrophies before visible macular pathology appears on fundus examinations. It not only helps us in diagnostic retinal and choroidal pathologies but also guides us in monitoring the progression of, staging of, and response to treatment. In this review, we summarize the key findings on OCT in some of the most common MD.

Methodological Appraisal of Phase 3 Clinical Trials in Geographic Atrophy.

Geographic atrophy (GA) secondary to age-related macular degeneration is a common cause of blindness worldwide. Given the recent approval of the first therapy for GA, pegcetacoplan, we critically appraise methodological aspects of the phase 3 clinical trials published so far in this disease in relation to their design, analysis and interpretation. We reviewed some of the key attributes of all phase 3 clinical trials in GA available in the main public registry of clinical trials as of 20 May 2023. The topics discussed included types of endpoints, eligibility criteria, p-value and effect size, study power and sample size, the intention to treat principle, missing data, consistency of results, efficacy-safety balance and application of results. Five phase 3 clinical trials have reported results, either partially or completely: GATHER1, DERBY/OAKS, CHROMA/SPECTRI, SEATTLE and GATE. Although there are many similarities between these trials in terms of endpoints or broad eligibility criteria, they differ in several aspects (metric of the primary endpoint, sample size, type of adverse events, etc.) that can influence the results, which are discussed. Readers should understand key methodological aspects of clinical trials to improve their interpretation. On the other hand, authors should adhere to clinical trial reporting guidelines to communicate what was done and how it was done.

Globe penetration during loco-regional anesthesia: prevalence and review of cases.

AIM: To describe prevalence and different clinical signs and management of cases with penetrating eye injuries during loco-regional anesthesia for ophthalmic surgery. METHODS: A retrospective review of clinical records was carried out, identifying cases of globe penetration secondary to peribulbar anesthesia injection during 5y activity in Centro de Oftalmología Barraquer. RESULTS: A total of 17 460 needle-based ocular anesthesia procedures were performed in our centre and 4 cases of globe penetration were recorded with an estimated prevalence of 0.024%. Globe penetrations were always detected in the first 24h after surgery. Vitreous haemorrhage was found in all the cases. Two eyes presented retinal detachment and two eyes choroidal detachment (CD). The initial surgical approach was performed within the first 48h. Silicone oil was used as tamponade in three eyes and the fourth case remained only with air. Detachments were solved successfully in all the cases. Functional results varied among cases, depending on ocular remarkable antecedent and globe penetration with or without retinal or CD. CONCLUSION: Prevalence of globe penetration during loco-regional anesthesia is low in our centre. Physicians should consider the possibility of globe penetration in eyes with postoperative atypical appearance after loco-regional anesthesia. Immediate B-scan ultrasonography is recommended in suspicious cases with a dense vitreous haemorrhage. An early vitrectomy surgery in conjunction with laser or cryotherapy at the penetration sites is essential for good anatomical and functional results.

[Isolated conjunctival sebaceous adenoma associated with acute endophtalmitis]. / Adenoma sebáceo conjuntival aislado asociado a endoftalmitis aguda.

Sebaceous adenoma of the conjunctiva is a very rare lesion of uncertain origin. It is usually associated with Muir-Torre syndrome in which neoplasms are also found in other parts of the body. We present the case of a 71-year-old man without a previous or family history of neoplasia, who presented with severe inflammation and an infection in his right eye associated with a tumor of the conjunctiva near the caruncle. The lesion was excised and histopathology revealed a sebaceous adenoma. Microsatellite instability was not observed immunohistochemically. He remains alive and well.

Adenoma sebáceo conjuntival aislado asociado a endoftalmitis aguda / Isolated conjunctival sebaceous adenoma associated with acute endophtalmitis

El adenoma sebáceo de la conjuntiva es una lesión muy rara y de un origen incierto. Habitualmente se asocia al síndrome de Muir-Torre en el que además hay neoplasias en otras partes del organismo. Presentamos el caso de un varón de 71 años sin afectación neoplásica ni antecedentes familiares, con un cuadro inflamatorio e infeccioso severo en el ojo derecho asociado a una tumoración a nivel conjuntival próximo a la carúncula. La lesión se extirpó y el estudio anatomopatológico reveló un adenoma sebáceo. No se observó inmunohistoquímicamente inestabilidad de microsatélites. La evolución fue satisfactoria.(AU)

Sebaceous adenoma of the conjunctiva is a very rare lesion of uncertain origin. It is usually associated with Muir-Torre syndrome in which neoplasms are also found in other parts of the body. We present the case of a 71-year-old man without a previous or family history of neoplasia, who presented with severe inflammation and an infection in his right eye associated with a tumor of the conjunctiva near the caruncle. The lesion was excised and histopathology revealed a sebaceous adenoma. Microsatellite instability was not observed immunohistochemically. He remains alive and well.(AU)

Structural brain correlates in major depression, anxiety disorders and post-traumatic stress disorder: A voxel-based morphometry meta-analysis.

The high comorbidity of Major Depressive Disorder (MDD), Anxiety Disorders (ANX), and Posttraumatic Stress Disorder (PTSD) has hindered the study of their structural neural correlates. The authors analyzed specific and common grey matter volume (GMV) characteristics by comparing them with healthy controls (HC). The meta-analysis of voxel-based morphometry (VBM) studies showed unique GMV diminutions for each disorder (p < 0.05, corrected) and less robust smaller GMV across diagnostics (p < 0.01, uncorrected). Pairwise comparison between the disorders showed GMV differences in MDD versus ANX and in ANX versus PTSD. These results endorse the hypothesis that unique clinical features characterizing MDD, ANX, and PTSD are also reflected by disorder specific GMV correlates.

Causes of corneal transplant failure: a multicentric study.

PURPOSE: To identify the causes of failure of the different surgical corneal graft techniques: penetrating keratoplasty (PK), deep anterior lamellar keratoplasty (DALK), Descemet stripping automated endothelial keratoplasty (DSAEK) and Descemet membrane endothelial keratoplasty (DMEK). METHODS: This multicentric retrospective study enrolled a consecutive cohort of patients who had undergone any type of keratoplasty between 2001 and 2016. The clinical data were obtained from the patient's medical records, following ethical guidelines, permissions and data protection. The main outcome measured in the study was the cause of graft failure, defined as any irreversible loss of graft transparency capable of compromising vision. The main causes of graft failure were classified as follows: (A) primary graft failure (PGF), (B) immunological rejection, (C) non-rejection (which includes endothelial decompensation without rejection, IOP elevation/glaucoma, diseases of the ocular surface, recurrence of the primary disease, wound dehiscence/hypotonia and trauma, among others) and (D) specific causes of lamellar keratoplasty failure. A descriptive study of the obtained data was carried out. The distribution of the causes of failure was evaluated according to the type of corneal transplant. RESULTS: Our research included a cohort of 571 keratoplasty failures, of which 509 met the inclusion criteria. The analysis of the causes of the PK failure showed that immunological allograft rejection represented the main cause, with 28.2% of the failures, followed by surface diseases (17.8%) and endothelial decompensation without rejection (17.3%). For the PK re-grafts group, the main cause of failure was immunological allograft rejection (34.0%), followed by diseases of the ocular surface (18.5%). For the DALK group, the failures mainly occurred due to surface diseases such as limbal stem cell insufficiency, infectious keratitis, keratolysis or persistent epithelial defect (37.8%). However, the main reason for failure in the DSAEK group was endothelial decompensation without rejection (31.9%) while primary graft failure was the main cause of failure in the DMEK group (64.1%). CONCLUSION: The main reason for failure in PK was immunological allograft rejection, both in primary and secondary transplants. The leading causes for failure were diseases of the ocular surface in the DALK population, endothelial decompensation without rejection in DSAEK and primary graft failure in DMEK.

Oral mucosa for reconstructive surgery in a case of severe inflammatory necrotizing sclero-uveitis.

The purpose of this case is to show the efficacy of buccal mucosa as an alternative to treat a case of severe necrotizing sclero-uveitis (NSU) associated with ocular perforation. We show a severe inflammatory NSU case that did not improve with topical treatment and scleral patch. We performed a buccal mucosa graft taken from the lower lip with excellent functional and anatomical result, with no signs of relapse of the NSU after 2 years of follow-up. Buccal mucosa can be a safe, useful, and effective alternative for the reconstruction of the scleral wall.

Risk factors for graft failure after penetrating keratoplasty.

The objective of our study was to define principal risk factors for graft failure in patients who underwent penetrating keratoplasty (PK).Retrospective data obtained from a cohort of 895 penetrating keratoplasties performed between 2001 and 2006 were analysed. Recipient related factors, graft characteristics, and surgical technique were assessed in a univariate analysis and with a multivariate proportional hazard model to detect principal risk factors for definitive graft failure.Multivariate analysis showed clear significance for diagnosis and number of previous grafts and border line significance for the oldest donor age group. Patients with keratoconus had the best 10-year survival estimate (95%), followed by endothelial and stromal dystrophies (both 55%), infectious leukomas (49%), trauma (33%) and chemical burns (14%). Primary PK grafts had a survival rate of 81%, second grafts of 33% and third or more grafts of 16%. Overall 10-year survival estimate based on univariate analysis was found to be 65%.In conclusion, we found that primary diagnosis and previous graft failures in the recipient are the most important risk factors of graft failure after a PK.