Choroideremia: The Endpoint Endgame.

Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal pigment epithelium. Affected individuals present in late childhood or early teenage years with nyctalopia and progressive peripheral visual loss. Typically, by the fourth decade, the macula and fovea also degenerate, resulting in advanced sight loss. Currently, there are no approved treatments for this condition. Gene therapy offers the most promising therapeutic modality for halting or regressing functional loss. The aims of the current review are to highlight the lessons learnt from clinical trials in choroideremia, review endpoints, and propose a future strategy for clinical trials.

Sickle cell retinopathy. A focused review.

PURPOSE: To provide a focused review of sickle cell retinopathy in the light of recent advances in the pathogenesis, multimodal retinal imaging, management of the condition, and migration trends, which may lead to increased prevalence of the condition in the Western world. METHODS: Non-systematic focused literature review. RESULTS: Sickle retinopathy results from aggregation of abnormal hemoglobin in the red blood cells in the retinal microcirculation, leading to reduced deformability of the red blood cells, stagnant blood flow in the retinal precapillary arterioles, thrombosis, and ischemia. This may be precipitated by hypoxia, acidosis, and hyperosmolarity. Sickle retinopathy may result in sight threatening complications, such as paracentral middle maculopathy or sequelae of proliferative retinopathy, such as vitreous hemorrhage and retinal detachment. New imaging modalities, such as wide-field imaging and optical coherence tomography angiography, have revealed the microstructural features of sickle retinopathy, enabling earlier diagnosis. The vascular growth factor ANGPTL-4 has recently been identified as a potential mediator of progression to proliferative retinopathy and may represent a possible therapeutic target. Laser therapy should be considered for proliferative retinopathy in order to prevent visual loss; however, the evidence is not very strong. With recent development of wide-field imaging, targeted laser to ischemic retina may prove to be beneficial. Exact control of intraoperative intraocular pressure, including valved trocar vitrectomy systems, may improve the outcomes of vitreoretinal surgery for complications, such as vitreous hemorrhage and retinal detachment. Stem cell transplantation and gene therapy are potentially curative treatments, which may prevent retinopathy. CONCLUSIONS: There is lack of evidence regarding the optimal management of sickle retinopathy. Further study is needed to determine if recent progress in the understanding of the pathophysiology and diagnosis of sickle retinopathy may translate into improved management and outcome.

Case report: Inferior valved for non-valved glaucoma drainage device exchange for glaucoma control and cosmesis.

Introduction: While the exchange of a superior valved glaucoma drainage device (GDD) for a non-valved GDD has been reported for achieving glaucoma control, inferior GDD exchange for improving the cosmetic appearance of the eyes due to poor appearance caused by encapsulated GDDs has not been previously documented. Here, we report on two patients with inferior valved GDDs who underwent an exchange for non-valved devices for glaucoma control and cosmetic improvement. Case description: We report on the case of a 23-year-old gentleman and that of an 8-year-old girl, both of whom had inferior valved GDDs with uncontrolled intraocular pressure and unsightly appearance due to encapsulated GDD plates within the palpebral aperture. Both patients were unhappy about the appearance of their eyes. In each case, improvements in both glaucoma control and cosmesis were achieved by exchanging the valved GDDs for non-valved ones. Conclusion: Exchanging a valved for a non-valved GDD might help improve the cosmetic appearance of the eyes, in addition to providing glaucoma control.

The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK.

OBJECTIVES: To validate and update the 2013 James Lind Alliance (JLA) Sight Loss and Vision Priority Setting Partnership (PSP)'s research priorities for Ophthalmology, as part of the UK Clinical Eye Research Strategy. METHODS: Twelve ophthalmology research themes were identified from the JLA report. They were allocated to five Clinical Study Groups of diverse stakeholders who reviewed the top 10 research priorities for each theme. Using an online survey (April 2021-February 2023), respondents were invited to complete one or more of nine subspecialty surveys. Respondents indicated which of the research questions they considered important and subsequently ranked them. RESULTS: In total, 2240 people responded to the survey (mean age, 59.3 years), from across the UK. 68.1% were female. 68.2% were patients, 22.3% healthcare professionals or vision researchers, 7.1% carers, and 2.1% were charity support workers. Highest ranked questions by subspecialty: Cataract (prevention), Cornea (improving microbial keratitis treatment), Optometric (impact of integration of ophthalmic primary and secondary care via community optometric care pathways), Refractive (factors influencing development and/or progression of refractive error), Childhood onset (improving early detection of visual disorders), Glaucoma (effective and improved treatments), Neuro-ophthalmology (improvements in prevention, diagnosis and treatment of neurodegeneration affecting vision), Retina (improving prevention, diagnosis and treatment of dry age-related macular degeneration), Uveitis (effective treatments for ocular and orbital inflammatory diseases). CONCLUSIONS: A decade after the initial PSP, the results refocus the most important research questions for each subspecialty, and prime targeted research proposals within Ophthalmology, a chronically underfunded specialty given the substantial burden of disability caused by eye disease.

Unilateral Congenital Lenticular Pigmentation.

Introduction: Release of pigments in the anterior chamber is frequently observed in pigment dispersion syndrome, an autosomal dominant disorder marked by bilateral pigment deposition on the anterior and possibly posterior lens capsule, zonules of the lens, trabecular meshwork, and corneal endothelium, in addition to radial, spoke-like transillumination defects in the mid peripheral iris [J Ayub Med Coll Abbottabad. 2017;29(3):412-414 and Optom Vis Sci. 1995;72(10):756-762]. Pigmentation of the anterior lens surface has also been associated with intraocular inflammation, pseudoexfoliation syndrome, siderosis, antipsychotic medication usage, and remnants of the tunica vasculosa lentis [Br J Ophthalmol. 1998;82(11):1344]. Case Presentation: A 23-year-old female presented to our eye clinic with chief complaint of mild blurring of vision in the right eye and inquired about refractive surgery. The patient denied any previous history of ocular inflammation, trauma, surgery, or use of topical or systemic medications. Slit-lamp examination of the right eye anterior segment was within normal limits except for the crystalline lens anterior capsular which showed confluent pigment deposits stellate in shape over the pupillary axis, whereas left eye examination was completely within normal limits. Ophthalmic examination of the posterior segment was normal in both eyes. Based on her previous ophthalmic history and slit-lamp examination of the right eye, a diagnosis of unilateral congenital lenticular pigmentation was made. Conclusion: Congenital lenticular pigmentation is a rare benign entity carrying no surgical indications with a relatively good visual response to optical correction. Recognition of this rare benign condition would add to the ophthalmologist's differential of ocular pigmentation and avoid unnecessary concern and follow-up in more potentially progressive disorders such as pigmentary glaucoma.

Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324-8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus dystopia, and their first-degree relatives have the same features of this syndrome. The following is a report of an unusual and rare presentation of ocular findings in Waardenburg syndrome. A 25-year-old male presented for eye examination due to gradual loss of his left eye visual acuity over the last few years with characteristic features of Waardenburg syndrome along with high intraocular pressure (IOP), cataract, and retinal detachment (RD) in one eye.

Prevalence and Determinants of Symptomatic Dry Eye Disease Among Adult Urban Residents of High-Altitude Areas of Southwest Saudi Arabia - A Survey.

Purpose: To estimate the prevalence and determinants of Ocular Surface Disease Index (OSDI) score based dry eye disease (DED) among the adult urban population of four cities located at high altitudes in Southwest Saudi Arabia. Methods: This cross-sectional survey was held in 2023. OSDI questionnaire was used to collect the responses of the adult participants. The score was further graded into none, mild, moderate, and severe DED to estimate age-sex-adjusted DED prevalence. The OSDI score was correlated to demographic (age group, gender, education, occupation, city) and risk factors like smoking and co-morbidities. Results: Of the 401 adults, 388 (response rate of 97.8%) participated. The age-sex-adjusted prevalence of mild, moderate, and severe DED was 21.7%, 13.1%, and 32%, respectively. The median ODSI score was 22.9 [Interquartile range (IQR) 10.4; 47.9)]. The score was significantly higher in females (Mann-Whitney U-test P = 0.038), residents of Taif city (KW P = 0.05), those with primary/middle school education (Kruskal-Wallis P = 0.004), comorbidities like hypertension, asthma (KW P < 0.001) and risk factors like past refractive surgeries, arthritis (KW P = 0.013). Education status (P <0.001) [B = -9.0 95%] and presence of comorbidity (P = 0.022), [B = -0.823] were significant predictors of DED. Conclusion: The prevalence of DED and severe grade was high. The level of education and presence of comorbidities significantly influenced DED in the adult urban Saudi population of cities at high altitudes.

Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.

Introduction: X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, relationship between structural and functional parameters, and disease progression is vital. Methods: In this retrospective multicentre study, 118 eyes of 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: RS1 variant; age at presentation; best-corrected visual acuity (BCVA), central retinal thickness (CRT), macular volume (MV) at presentation and at the last follow up; full-field electroretinogram (ERG) findings; presence of peripheral retinoschisis and complications (vitreous hemorrhage, retinal detachment); treatment with systemic or topical carbonic anhydrase inhibitors (CAI). Results: Inter-eye symmetry revealed strong correlation in CRT (r = 0.77; p < 0.0001) and moderate correlations in MV (r = 0.51, p < 0.0001) and BCVA (r = 0.49; p < 0.0001). Weak or no correlations were observed between BCVA and structural parameters (CRT, MV). Peripheral retinoschisis was observed in 40 (68%), retinal detachment in 9 (15%), and vitreous hemorrhage in 5 (8%) patients, respectively. Longitudinal examinations (mean, 4.3 years) showed no BCVA changes; however, a reduction of the CRT (p = 0.02), and MV (p = 0.01) was observed. Oral and/or topical CAI treatment did not significantly alter the CRT (p = 0.34). Discussion: The XLRS phenotype demonstrates a strong CRT symmetry between the eyes within individual patients and stable BCVA over several years. BCVA exhibits a weak correlation with the morphological parameters of retinal thickness (CRT MV). In our cohort, longitudinal functional changes were not significant, likely attributed to the short average follow-up period. Furthermore, CAI treatment didn't influence both morphological and functional outcomes.

Outcomes of Corneal Topography among Progressive Keratoconus Patients 12 months following Corneal Collagen Cross-Linking.

PURPOSE: This study aimed to assess the overall and specific topographic changes among patients who underwent corneal collagen cross-linking (CXL) due to progressive keratoconus. METHODS: This retrospective case series study was conducted at a single-arm hospital in King Abdulaziz Medical City, Riyadh. All progressive keratoconus patients who underwent CXL between January 2017 and December 2018 were included consecutively. The epi-off crosslinking technique (Dresden protocol) was applied in all patients. The topographic values were measured preoperatively and 12 months postoperatively. Patients with a history of a previous corneal procedure, corneal trauma, or any corneal scarring were excluded. RESULTS: Among our population (29 eyes of 24 patients), 58.6% of eyes were for male patients, and the mean age of the population was 27.76 ± 4.21 years. Based on the topography results, the mean values of corneal thickness at central 3 mm decreased from 473.45 ± 38 µm to 465.72 ± 41.78 µm following CXL (Z = -1.93, 95% confidence interval [CI] = 0.048-0.057, p= 0.053). Clinically significant astigmatism measurements were present in 28 (96.6%) eyes before CXL compared to 26 (89.7%) eyes after CXL. The mean values of astigmatism among the patients were 3.37 ± 2.25 diopters before and 3.67 ± 2.61 diopters after CXL (Z = -1696, 95% confidence interval [CI] = 0.085-0.096, p = 0.09). After CXL, the mean values of the front elevation at the apex changed from 33.90 ± 20.13 µm to 36.10 ± 21.09 µm (Z = -2.792, 95% [CI] = 0.003-0.006, p = 0.005). The mean values of the back elevation at the apex changed from 68.4 ± 35.66 µm to 69.90 ± 35.89 µm (Z = -0.934, 95% CI = 0.343-0.366, p = 0.35). CONCLUSION: The topographic corneal parameters improved significantly in the patients with corneal ectasia after CXL. These results revealed the safety and efficacy of CXL in stabilizing keratoconus progression among Saudi patients at 1 year of follow-up.

Pharmacologically induced uveitis.

Treatments of numerous systemic and local diseases of different etiologies may be accompanied by an unwanted side effect in the form of uveitis. We inform readers about medications that have the potential to cause uveitis and analyze the strength of association of these medications with uveitis. Subsequently, cessation of medication or appropriate treatment can be individualized for each patient for the purpose of preventing further damage to tissue structure and function. Being aware of these associations, physicians may readily identify medications that may cause uveitis and avoid expensive and unnecessary clinical and laboratory testing.

Glaucoma Diagnoses and Legal Blindness from Glaucoma among Bedouin Patients of Central Saudi Arabia: A Hospital-Based Study.

PURPOSE: The current study aims to know the glaucoma diagnoses and legal blindness from glaucoma among a tertiary referral center in Riyadh (King Abdulaziz Medical City [KAMC]-Riyadh patients). METHODS: This is a retrospective cohort study on chart review, where all eligible glaucoma patients attending the ophthalmology clinic at KAMC-Riyadh, between 2018 and 2019; were included. RESULTS: A total of 248 patients were included in the study; 142 patients (57.3%) were females and 106 (42.7%) were males. The mean age of the patients was 62.2 ± 18 years and most of them (93.5%) did not have a family history of glaucoma. Nearly one-quarter (26.6%; n = 66) of the included patients were legally blind, out of those, 36.4% had their right eye affected, 34.8% had their left eye affected, and 28.8% had both eyes affected. Legally, blind patients (LBGs) did not show a statistically significant reduction in the intraocular pressure (IOP) in the right eye (P = 0.103), on comparing the IOP in both visits. Nevertheless, there was a statistically significant reduction in the IOP of the left eye among the LBGs in both visits (P = 0.016). Regarding the nonblind group of patients, there were highly statistically significant reductions in both eyes (P < 0.001). CONCLUSION: The present findings show a high prevalence rate of legal blindness among glaucoma patients, with IOP reduction, age, and glaucoma diagnoses being the most important predictors among the study population.

Incidence of Intraocular Lens Exchange after Cataract Surgery.

Intraocular lens (IOL) exchange after cataract surgery is unusual but may be associated with suboptimal visual outcome. The incidence of IOL exchange has not been consistently estimated. Such information is invaluable when counseling patients prior to cataract surgery. We examined the incidence of, and indications and risk factors for, IOL exchange after cataract surgery. We also assessed visual outcome of eyes that had an IOL exchange. A cohort design was used to estimate the incidence of IOL exchange and a case-control design to identify factors associated with it. All phacoemulsification surgeries with IOL (n = 17415 eyes) during 2010-2017 and those that had a subsequent IOL removal or replacement during the same time period were identified (n = 34 eyes). The incidence of IOL exchange was 2 per 1000 surgeries (95% confidence interval [CI] 1 to 3) over 8 years. Eyes that underwent subsequent IOL removal or replacement were compared with eyes that had cataract surgery only (n = 47) across demographic and clinical characteristics. In a binary logistic regression analysis, two factors were significantly associated with IOL exchange/removal: an adverse event during cataract surgery (adjusted odds ratio [aOR] 19.45; 95% CI 4.89-77.30, P < 0.001) and a pre-existing ocular comorbidity (aOR 10.70; 95% CI 1.69-67.63, P = 0.021). The effect of gender was marginally significant (P = 0.077). Eyes that underwent IOL exchange or explantation were nearly two and a half times more likely to have a final best-corrected visual acuity of <20/60 compared to those that had cataract surgery alone (adjusted RR 2.60 95% CI, 1.13-6.02; P = 0.025).

Multimodal imaging in CABP4-related retinopathy.

PURPOSE: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. METHODS: Retrospective case series. RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction. CONCLUSIONS: Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.