Anterior segment migration of intravitreal dexamethasone implant in a patient with scleral fixation intraocular lens implant: a case report.

Corticosteroids are crucial for treating inflammatory ocular conditions. The development of dexamethasone revolutionized targeted ocular therapy. Ozurdex, a dexamethasone implant, effectively treats various eye conditions but carries risks such as implant migration. This is a case of anterior segment migration of intravitreal dexamethasone implant, Ozurdex, in a patient with scleral fixation intraocular lens implant in whom conservative management with supine positioning and pharmacologic pupil dilation can help retain the implant back in the vitreous. Patients at high risk of Ozurdex migration should avoid its use. Educate patients on the risk of implant migration and signs of migration to present immediately to an ophthalmology emergency department to avoid corneal damage. It is essential to identify high-risk patients before considering Ozurdex migration. In some cases, conservative management can be initiated while preparing for surgical removal.

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Cone dystrophy associated with autoimmune polyglandular syndrome type 1.

To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families.

Central Retinal Artery Occlusion in a Young Patient With a Hidden Unusual Sickle Cell Trait.

Sickle cell trait is considered a benign condition. Ophthalmic manifestations are infrequent but can result in significant visual deterioration. We present a case of a 33-year-old male, not known to have any medical illnesses, who presented to the ophthalmological emergency room complaining of a sudden onset of painless and profound left eye vision loss for 12 hours. The patient denied any medication use, past eye trauma, or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and hand movement in the left eye. Dilated fundus examination of the left eye showed a central retinal artery occlusion (CRAO) with pale, white retinal swelling and a macular cherry-red spot. Fundus fluorescein angiography showed delayed arterial filling with persistently reduced macular perfusion. CRAO was diagnosed in an otherwise healthy young male. Systemic workup was negative except for protein electrophoresis, which showed sickle cell trait, and HbA1C was 7.8%. Later, atrophic macular changes with a pale optic disc were observed, and BCVA was reduced to light perception. CRAO in young patients amounts to diverse causes, which require extensive systemic workup. In addition, the concurrence of the sickle cell trait with diabetes mellitus might have a role in CRAO development.

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

PURPOSE: To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. METHODS: Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. RESULTS: 10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%). CONCLUSION: LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.

FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

BACKGROUND/PURPOSE: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. METHODS: Retrospective case report. RESULTS: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. CONCLUSION: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.

Retinal periphlebitis associated with branch retinal vein occlusion and complicated by subfoveal hemorrhage: a case report.

Retinal periphlebitis is a subtype of retinal vasculitis affecting the retinal veins. We report a case of bilateral branch retinal vein occlusion (BRVO) associated with idiopathic retinal periphlebitis and complicated by subfoveal hemorrhage (SFH). An 18-year-old woman presented with best-corrected visual acuity of 20/20 in the right eye and 20/30 in the left eye. Examination revealed bilateral retinal vascular sheathing predominantly involving the retinal veins and bilateral BRVO. Fundus fluorescein angiography revealed localized vascular leakage in the right eye and diffuse vascular leakage in the left eye. Spectral-domain optical coherence tomography showed mild nasal thickening with subfoveal fluid in the left eye. Oral steroids were started on a tapering dosage as well as oral methotrexate. A year later, she presented with regressed vascular sheathing in both eyes with 5/200 vision and SFH in the left eye. Pars plana vitrectomy, subretinal tissue plasminogen activator, intravitreal ranibizumab, laser photocoagulation, and gas injection were performed. The SFH resolved and the visual acuity improved to 20/100. Good vision was preserved in both eyes with no active inflammation. Timely management of SFH in idiopathic retinal periphlebitis can achieve a favorable visual outcome.

Diabetic Retinopathy and Eye Screening: Diabetic Patients Standpoint, Their Practice, and Barriers; A Cross-Sectional Study.

Diabetes mellites (DM) is one of the most common systemic disorders in Saudi Arabia and worldwide. Diabetic retinopathy (DR) is a potentially blinding ophthalmic consequence of uncontrolled DM. The early detection of DR leads to an earlier intervention, which might be sight-saving. Our aim in this cross-sectional study is to assess patients' knowledge and practices regarding DR, and to detect the barriers for eye screening and receiving a check-up from an ophthalmologist. The study included 386 diabetic patients. One hundred and thirty-one patients (33.9%) had T1DM and 188 (48.7%) had T2DM. Most of the diabetic patients (73.3%) know that they must have an eye check-up regardless of their blood sugar level. DM was agreed to affect the retina in 80.3% of the patients, 56% of patients agree that DM complications are always symptomatic, and 84.5% know that DM could affect their eyes. The fact that blindness is a complication of diabetic retinopathy was known by 65% of the diabetic patients. A better knowledge was detected among patients older than 50 years of age (54.9%) compared to those aged less than 35 years (40.9%), which was statistically significant (p = 0.030). Additionally, 61.2% of diabetic patients who were university graduates had a significantly better knowledge in comparison to 33.3% of illiterate patients (p = 0.006). Considering the barriers to not getting one's eyes screened earlier, a lack of knowledge was reported by 38.3% of the patients, followed by lack of access to eye care (24.4%). In conclusion, there is a remarkable increase in the awareness of DR among the Saudi population. This awareness might lead to an earlier detection and management of DR.

Hydrogel (Miragel®) scleral explant, late orbital complication.

INTRODUCTION: The hydrogel Scleral Buckle is a soft and pliable subtype of buckles which has been used to repair retinal breaks and detachments externally. This case represents an unusual late orbital complication of the implant. CASE REPORT: A 70 years old male patient presented with drooping right upper lid and eye misalignment, associated with foreign body sensation and discomfort. The patient underwent scleral buckle surgery for a rhegmatogenous retinal detachment 32 years before his presentation using a hydrogel MIRAgel® explant. Orbital imaging showed a large cystic lesion in the superolateral quadrant of the orbit indicating a fluid-filled explant. DISCUSSION: In patients who were treated with hydrogel MIRAgel® explant for retinal breaks or detachments, detailed ophthalmic history, particular past eye surgery history, and examination, orbital imaging, and good clinical documentation. Serious orbital and neurological conditions need to be ruled out carefully. CONCLUSION: Late orbital complications of hydrogel MIRAgel® explant might develop late after surgery and might represent a diagnostic challenge for ophthalmologists.

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.

Epidemiological Characteristics and Outcome of Open Globe Injuries in Tabuk City, Kingdom of Saudi Arabia: Retrospective Cohort Study.

INTRODUCTION: The objective of this study was to assess the epidemiological characteristics, clinical features and visual outcomes of open globe eye injury (OGI) in Tabuk, Saudi Arabia. METHODS: A retrospective chart review of OGI patients who had undergone operative repair of their injuries in Tabuk, Saudi Arabia. The collected data included patients' demographics, duration between trauma and presentation and the mechanism of trauma, wound location, extent of injury, presence of intraocular foreign body, and initial and final visual acuity data. RESULTS: Sixty-three eyes of 63 patients who were admitted for traumatic globe rupture were included; 84.1% were males and 39.7% were of pediatric age. Delay in seeking medical care for > 24 h was recorded in 4.8% of patients. The most common (42.9%) mechanism was blunt trauma followed by sharp trauma (38.1%) and projectile trauma (9.5%); 55.6% had the injury in zone 1. Intraocular foreign body was reported in 9.5% of patients. Intraocular foreign bodies were significantly more common in adults (p = 0.018) compared to children. Poor visual acuity was noted in 77.8% of patients upon presentation and 60.3% on last visit. CONCLUSION: The incidence of OGI was more common in males. The most common cause of OGI was blunt injury, and half of the injuries were in zone 1. Visual outcomes are guarded for most patients with OGIs.

Retinopathy of Prematurity as Multidisciplinary Approach, a Pediatricians Standpoint, and Practice.

PURPOSE: This study aims to measure the knowledge levels toward retinopathy of prematurity (ROP) among pediatricians covering neonatal intensive care units (NICUs) in the major hospitals in Tabuk, Saudi Arabia. To our knowledge, this is the first report to assess the awareness level of ROP in the NICU pediatricians in the region. PATIENTS AND METHODS: This is a quantitative, non-experimental, cross-sectional, descriptive study using self-administered electronic questionnaires to assess the knowledge level among NICU pediatricians at the main hospitals of Tabuk city. We used a self-administer online validated knowledge, attitude, and practice (KAP) questionnaire. A scoring system was implemented in the data analysis, depending on the correct chosen answers on the KAP questionnaire, to present the ROP knowledge level in the participants. RESULTS: The study included 41 NICU pediatricians. Most of the participants' age exceeded 40 years (51.2%). The majority were recruited from either King Salman Military hospital (34.1%) or King Khalid hospital (31.7%). The average frequency of preterm infants seen per month exceeded 15 infants among 41.4% of the respondents. Most pediatricians recognized the important treatment modalities available for ROP (92.7%); however, only 24.4% of them could recognize that 32 weeks or less is the gestational age of the screening criteria for ROP. The overall knowledge score ranged between 4 and 10, out of a possible maximum of 12 with a mean ± SD of (6.68±1.47). The majority (75.6%) believe that the ROP treatment can successfully prevent blindness. CONCLUSION: Our study demonstrated that the NICU pediatricians have good knowledge about the treatment modalities of ROP. However, their knowledge about the inclusion criteria of ROP screening was insufficient. Thus, we highlighted the necessity of raising the awareness level and the strict application of the clinical guidelines among NICU pediatricians and healthcare workers involved in managing ROP.

Uveitic Granulomas Masquerading as Ocular Tumors.

Introduction: Solitary uveal lesions confer a diagnostic challenge to ophthalmologists. Uveitic lesions most abundantly appear amelanotic and commonly involve the choroid. Most amelanotic choroidal lesions are either neoplastic or inflammatory in origin. In our study, we aimed to describe six uveitic granuloma cases, which were referred to a tertiary ophthalmology center as intraocular tumors. Methods: Retrospective chart review of 6 patients (7 eyes) who had uveitic granulomas and were referred to a tertiary ophthalmology center as having intraocular tumors. Results: Mean age on presentation was 47 ± 12.5 years. One lesion was involving the ciliary body only, five lesions had pure choroidal involvement, and one had ciliochoroidal involvement. Mean visual acuity on presentation was 1.7 ± 0.75 (Snellen = 20/1,000) and ranged from 20/80 to light perception. Mean basal diameter of all lesions was 7.7 ± 1.8 mm. Three lesions had moderate echogenicity, two lesions were low to moderate echoic, and one lesion had moderate to high echogenicity on ultrasonography. Three lesions were associated with retinal detachments. Five eyes showed an early hypofluorescence with late hyperfluorescence. Leakage of fluorescein at borders was noticed in 3 lesions. Final diagnosis was presumed intraocular tuberculosis in 4 patients, probable ocular sarcoidosis in 1 patient, and idiopathic solitary uveitic granulomas in 1 patient. Upon treatment, the vision improved to 0.3 ± 0.27 (Snellen = 20/40) and ranged from 20/20 to 20/100 after 4.7 ± 2.9 years of follow-up. Conclusions: Uveitic granulomas can demonstrate features of ocular tumors. Proper uveitis management leads to a favorable visual outcome and ocular preservation.

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.

The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is uncommon and poses diagnostic and management challenges. In this case, we describe the clinical features and management outcomes in an RP patient with a novel homozygous splice site mutation in PRPF8. A 21-year-old male presented with unilateral decrease of vision in the right eye for 1 week. Retinal dystrophy features were present in the left eye. After 2 weeks of topical steroid therapy, near-total resolution of IU was achieved and vision improved to 20/30. Signs of (RP) were present bilaterally, with the right eye more affected than the left. Genetic testing indicated a novel homozygous c. 3061-6_3061-3del mutation in the PRPF8 gene. IU in young patients with RP can be effectively treated with a short course of topical steroids, sparing the need for systemic immunosuppressives. After the improvement in IU, the right eye showed more advanced RP changes.

Central Serous Chorioretinopathy Following Oral Use of Adulterated Honey Mixed with Tadalafil: A Case Report.

BACKGROUND: Central serous chorioretinopathy (CSCR) is an idiopathic condition characterized by serous retinal detachment and/or retinal pigment epithelial (RPE) detachment, the condition associated with a fluid leak through the RPE into subretinal space. This article reports on an unusual case of CSCR following taking adulterated honey mixed with tadalafil powder. CASE PRESENTATION: A 38-year-old male, not known to have any medical illnesses, came to our ophthalmology clinic complaining of sudden onset of blurred central vision in the left eye for five days after taking an adulterated honey which was claimed to improve sexual performance. On taking a history, the patient denied taking any medications or past eye trauma or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and 20/80 in the left eye. Dilated fundus examination of the right eye showed a flat retina, normal macular reflex, healthy optic nerve head and the left eye showed blunt foveal reflex with neurosensory retinal detachment at the macula and subretinal fluid. Optical coherence tomography (OCT) of the left eye showed marked macular thickening, leading to the impression of central serous chorioretinopathy (CSCR). Four weeks after stopping the adulterated honey, BCVA improved to 20/20 in the left eye, with complete resolution of subretinal fluids. CONCLUSION: Our case adds to recently reported cases of a link between tadalafil and CSCR.

The Effect of Perioperative Uveitis Control on the Success of Glaucoma Surgery in Uveitic Glaucoma.

PURPOSE: To study the effects of perioperative uveitis control (PUC) on postoperative intraocular pressure (IOP) and uveitis activity in uveitic glaucoma (UG) patients who required glaucoma surgeries. PATIENTS AND METHODS: A retrospective chart review of 109 patients (120 eyes) which had glaucoma surgery for UG. A total of 66 eyes which had PUC were compared to 54 eyes which did not have. Measurements of IOP and uveitis activity were recorded preoperatively and over 2 years postoperatively. Average number of antiglaucoma medications and frequency of surgical failure were obtained in both groups. RESULTS: Over 2 years postoperatively, average IOP was lower in eyes which had PUC. Significant differences in IOP were found at 3 months (P = 0.004), 6 months (P = 0.001), 1 year (P < 0.001), and 2 years (P < 0.001). Lower grades of anterior chamber (AC) inflammation were found in eyes which had PUC. Significant differences were found at 1 month (P < 0.001), 3 months (P < 0.001) and 6 months (P = 0.001). Mean number of antiglaucoma medications at last visit was 0.7 ± 1.1 for eyes which had PUC and 2.6 ± 1.5 for eyes which did not have PUC (P < 0.001). Among eyes which had PUC, only two eyes required second glaucoma surgeries, while 16 eyes with no PUC required further glaucoma surgeries after 27.7 ± 12.5 months (P < 0.001). CONCLUSION: Proper PUC in patients going for UG surgeries results in lower IOP levels and less AC inflammation over 2 years postoperatively. A comprehensive PUC regimen is needed for uveitic glaucoma patients going for surgeries.

Poor Outcome in Camel-Related Eye Trauma with Ruptured Globe.

PURPOSE: To report the poor visual outcome of ruptured globe caused by camel bites. OBSERVATIONS: A 48-year-old camel caregiver presented to the emergency department after being bitten by a camel in the left side of his face. Ophthalmic examination revealed a superior scleral wound from 9 to 2 o'clock, about 6 mm from the limbus extending to the equator with prolapse of uveal and vitreous tissues, an opaque cornea, total hyphema, diffuse subconjunctival hemorrhage, and a lower lid laceration involving the lid margin and the nasolacrimal duct. The patient has undergone surgical repairs of ruptured globe and lid laceration, followed by retinal detachment surgery. Following these surgical interventions, the patient preserved a light perception vision with flat retina. CONCLUSION: Camel-related injuries might primarily involve the ophthalmic structures, especially in camel bites. Camel-related eye trauma might lead to poor visual and anatomical outcomes which might not improve following surgical interventions.

Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.

Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.Methods: Retrospective case report.Results: A 17-year old monocular female presented with sudden onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients.Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients.

Long term keratits treatment with topical cyclosporin a in autoimmune polyglandular syndrome type 1.

PURPOSE: To report long term results of two cases treated with topical cyclosporin A 1% for keratitis associated with autoimmune polyglandular syndrome (APS1). OBSERVATIONS: A 25-year-old male and a 17-year-old female were referred from endocrinology as APS1-related autoimmune keratitis. Extended-duration treatment with topical cyclosporin A (CsA) 1% was used for 24 and 18 months, respectively. The first patient had improved best-corrected visual acuity (BCVA) from 20/200 and 20/300 in right and left eye to 20/60 in both eyes with markedly improved corneal opacification, while the second patient had improved BCVA from 20/400 and 20/300 in right and left eye to 20/160 in both eyes with persistent central stromal scarring in the right eye and discrete areas of stromal scarring in the left eye. CONCLUSIONS AND IMPORTANCE: Long-term topical CsA 1% offers a valuable option for treatment of APS1-related autoimmune keratitis.