Iris Transillumination Defects Research Articles

Anterior Segment Optical Coherence Tomography in Uveitis-Glaucoma-Hyphema Syndrome

ABSTRACT Purpose Uveitis-Glaucoma-Hyphema (UGH) syndrome results from contact between the intraocular lens (IOL) and the iris or ciliary body, leading to uveal structure erosion and blood-aqueous barrier breakdown. Treatment involves various drugs, with IOL removal often being necessary. Diagnosis relies on clinical signs, but imaging techniques like ultrasound biomicroscopy (UBM) or anterior segment optical coherence tomography (AS-OCT) are crucial. AS-OCT accurately depicts IOL position and potential contact, emerging as a primary alternative to UBM in the diagnosis. Our study aimed to correlate AS-OCT findings with clinically detectable iris atrophy in pseudophakic patients with IOL-iris chafing and UGH syndrome. Methods The study retrospectively analyzed patients diagnosed with UGH syndrome presenting at the Ocular Immunology Unit of Reggio Emilia, Italy, from January 2019 to August 2023. Patients’ data were collected. Ophthalmological exams and imaging were performed. The peephole sign in AS-OCT images was evaluated. Statistical analyses were conducted, with a significance level of p ≤ 0.05. Results The study reviewed 22 eyes of 22 patients with UGH syndrome. Four eyes were excluded, leaving 18 patients (8 females, 10 males). Common misdiagnoses included idiopathic anterior uveitis (55.5%) and herpetic anterior uveitis (16.7%). All patients had iris transillumination defects, mostly focal (77.8%). AS-OCT revealed IOL chafing in all the eyes, with peephole sign correlation. More peephole signs occurred with IOL in the sulcus (p-value = 0.08). Conclusion The study recommends AS-OCT for UGH syndrome confirmation and UBM when IOL-iris chafing is not observed on AS-OCT scans.

Evaluation of pseudoexfoliation syndrome in eyes undergoing cataract surgery in tertiary care centre of Uttarakhand

Background: Pseudoexfoliation (PEX) syndrome, an age related microfibrillopathy having varied prevalence and associated with dense cataract, poorly dilating pupil resulting in challenging cataract surgeries. The present study aimed to evaluate pseudoexfoliation syndrome in eyes undergoing cataract surgery in tertiary care centre of Uttarakhand. Materials and methods: A hospital based prospective study carried out from January 2021 to June 2022 and approved by the Institutional Ethical Committee. A total of 1000 eyes of 1000 patients to be operated underwent complete ophthalmic evaluation including refraction, tonometry, gonioscopy, slit lamp biomicroscopy for presence of pseudoexfoliation, cataract grading, and fundus examination. Patients with PEX were diagnosed and data analysed. Results: A total of 54 PEX cases were diagnosed with 29 (53.7%) males and 25(46.3%) were females having mean age of 67.48 + 9.79 years, mean CCT was 528.46 + 18.49 micron and mean IOP was 19.81 + 5.88 mmHg. Prior to cataract surgery, an IOP of more than 21 mm Hg was noted in 40.7% (n=54) of pseudoexfoliative eyes. PXM on pupillary margin present in 51 (94.4%), on anterior lens capsule in 37 (68.5%), on iris in 31 (57.4%), on cornea in 5 (9.3%), phacodonesis in 6 (11.1%), Iris transillumination defect in 3 (5.6%), PXM on trabecular meshwork in 24 (44.4%) and sampaolesi line in 13 (24.1%). Conclusion: PEX presents challenges that necessitate thorough preoperative planning for a safe surgery and a satisfactory postoperative result. Therefore, dilated anterior segment evaluation should be emphasised in daily practise to avoid early PEX patients from being undiagnosed.

Clinical profile and demographic distribution of pigment dispersion syndrome: An electronic medical record-driven big data analytics from an eye care network in India

Objectives: The purpose of this study was to describe the demographics and clinical profile of pigment dispersion syndrome (PDS) in patients presenting to a multi-tier ophthalmology hospital network in India. Material and Methods: This cross-sectional hospital-based study included 2,961,706 new patients presenting between August 2010 and September 2021. Patients with a clinical diagnosis of PDS in at least one eye were included as cases. The data were collected using an electronic medical record system. Results: Overall, 403 (0.014%) patients were diagnosed with PDS. Three fourth of the patients were male (75.43%) and 91.81% had bilateral affliction. The most common age group at presentation was during the fourth decade of life with 100 (24.81%) patients. In the 773 eyes, 443 (57.31%) eyes had mild or no visual impairment (<20/70) and blindness (>20/400) in 81 (10.48%) eyes. Krukenberg spindle was seen in 445 (57.57%) eyes and iris transillumination defects in 33 (4.27%) eyes. About a third of the eyes, 241 (31.18%) eyes had an intraocular pressure (IOP) >21 mm of Hg at presentation. Three hundred and twenty-eight (42.43%) eyes were on more than one anti-glaucoma medication. YAG peripheral iridotomy was documented in 100 (12.94%) eyes. In the 46 (5.95%) eyes that required a glaucoma related surgical intervention, combined surgery was performed in 30 (3.88%) eyes and trabeculectomy in 16 (2.07%) eyes. Conclusion: PDS is more common in males presenting during the fourth decade of life and is predominantly bilateral. A third of the eyes have raised IOP and a tenth of them are affected with blindness at presentation.

Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.

Late-onset retinal degeneration (L-ORD) is a rare retinal dystrophy with anterior segment (AS) abnormalities, including long anterior zonules (LAZ) and iris atrophy. This investigation evaluates AS changes in a L-ORD cohort. Prospective, longitudinal study including L-ORD individuals (Ser163Arg) with ocular exam and standard slit-lamp photographs between 2011 and 2022. AS images were merged and assessed for LAZ number and zonule-free zone (ZFZ) radius. Further clinical findings such as iris atrophy patterns were reported descriptively. Twelve eyes of 6 patients (4 males, median age = 60.5years) were included, showing a median of 160 (11-372) LAZs, mainly localized superiorly (39%) and inferiorly (24%). There was a high inter-ocular correlation (rs = 0.94, p < 0.01), no difference in LAZ count between eyes (p = 0.82), and an inverse relationship between LAZ and age (r = - 0.82; p < 0.05). The ZFZ had median 2.1mm (1.3-5.4), with no inter-ocular difference (p = 0.31). Iris transillumination defects occurred in 11/12 eyes, with 4 major patterns identified: pupillary ruff rarefaction (10/12), patchy atrophy (6/12), notched defects (6/12), and radial streaks (2/12). In a short-term follow-up of 5.9years, 4 eyes showed a reduction in LAZ count to median 139.5 (67-169) (p = 0.50) and a concomitant increase in ZFZ measurement to median 2.2 (1.7-2.6) (p = 0.17). This study confirms symmetric LAZs count and ZFZ in L-ORD, with ZFZ measurements smaller than in previous cohorts. A reduction in LAZs count and an increase in ZFZ with age were suggested longitudinally, yet findings need further evaluation as follow-up was limited to two cases.

Bilateral Acute Iris Transillumination and Elevated Intraocular Pressure After COVID-19 Infection.

Bilateral acute iris transillumination (BAIT) is characterized by abundant pigment discharge into the anterior chamber. Atonic pupil and severe intraocular pressure (IOP) elevations may be observed. Generally, there is a viral upper respiratory tract infection or systemic fluoroquinolone usage before BAIT. Two cases with a recent history of coronavirus disease 2019 (COVID-19) presented with a complaint of decreased vision. Elevated IOP and iris transillumination defects were observed in both patients. Both patients were diagnosed with BAIT. Although elevated IOP was controlled with medical treatment in 1 patient, glaucoma surgery was performed in the other patient because it could not be controlled with medical treatment. As both patients received no systemic treatment for COVID-19, the pressure rise seems to be directly related to the viral infection alone through the inflammatory process. Atypical ocular presentations of COVID-19 should be kept in mind as it can have serious consequences.

Characteristics of pigmentary glaucoma in Japanese individuals

PurposeMyopia is a known risk factor of pigmentary glaucoma (PG), and the increased prevalence of myopia in Asian countries indicates that more cases of PG will likely develop soon. However, there are no diagnostic criteria for PG for Asians. Therefore, the purpose of this study is to determine the characteristics of PG in Japanese individuals and establish three diagnostic signs for PG.MethodsThis was a single-center, retrospective, case series study of glaucoma patients who visited the Kagoshima University Hospital between January 2015 and January 2020. The inclusion criteria were age <50 years at time of diagnosis and presence of pigmentation in the anterior chamber (AC) angle including a Sampaolesi line. Eyes with pigmentation of the AC angle caused by other types of glaucoma such as uveitis, trauma, exfoliation, or childhood glaucoma were excluded. We investigated the classic diagnostic triad of signs of PG; posterior corneal pigmentation, mid peripheral iris transillumination defect, and pigmentation of the trabecular meshwork. We also examined the Sampaolesi line, iris concavity, and midperipheral iris depigmentation in eyes with PG.ResultsTen eyes of 5 Japanese men and 10 eyes of 5 Japanese women were studied. Their age ranged from 13 to 46 years at the time of diagnosis. One eye had posterior corneal pigmentation and 6 eyes had pigmentation of the trabecular meshwork. None had mid peripheral iris transillumination defect. The Sampaolesi line, iris concavity, and midperipheral iris depigmentation were found in all patients except one patient who lacked the mid peripheral depigmentation. Two eyes had the pigment reversal sign, none had lens pigmentation, and 2 eyes had peripheral retinal degeneration.ConclusionThe presence of the Sampaolesi line, iris concavity, and midperipheral iris depigmentation may be appropriate signs for the diagnosis of PG in Asians.

A singular emplastrum containing Amni majus flowers and firebird extract is able to fight the odd adverse reactions involved in the variant/subvariant Omicron of COVID-19

Sir, The authors of this article desire to highlight the evidence of the insurgence 48–72 hours after the third administration of a whichever mRNA vaccine, nowadays compulsory in most of the European states and other nations of the world, of a slight flu strain tantamount to a simplest epidemical and seasonal viral occurrence from South Africa that may be treated administering as a trivial antibiotic as Tubocin (Actavis/Balkanpharma, Bulgaria) and/or a peculiar and reinforcing and immunostimulating tea based on a combination of antiviral herbs such as uña de gato or the firebird (a particular coneflower with the strongest antiviral potency never known hitherto); Tylenol is unnecessary. While the corresponding authors affirm that Omicron is nothing but a variant, according to the WHO’s official statement, “based on the evidence presented indicative of a detrimental change in COVID-19 epidemiology, the TAG-VE has advised WHO that this variant should be designated as a VOC, and the WHO has designated B.1.1.529 as a VOC, named Omicron.” Finally, the authors decided to treat the illness using only an emplastrum to be applied topically for ten days, abating pain and discoloration of the fingers. At any rate, the administration of the third dose of mRNA vaccine began in many European countries some weeks ago and several cases of odd adverse reactions were reported, which have been occurring since the very first days of vaccinations, and this is suggestive that a rapid COVID-19 test may be negative or positive; symptoms are arduous to be discernable, only a prickly feeling in the throat and an evident discoloration of the extreme phalanges of the fingers of feet and hands. This article describes the case of a 26-year-old female, a mulatta from Charleston, South Carolina who worked in the same university in which the authors co-operated. In order to work in the authors’ university as cleaning staff, she had the third vaccination performed several days earlier. Dermatologically and clinically, the following are the chief manifestations of this illness: a complete depigmentation of the extreme two phalanges of the fingers and toes with a severe pain whenever these upper and lower limbs hit or strike some adamantine or angulating object; difficulty in distinguishing savors; reddish eyes; the presence of a moderate fever only before going to bed. The female had reddish eyes and a sort of vitiligo only in the upper limbs. She affirmed that she had felt a slight fever (37.5 °C only before going to bed, yet she used to believe it was because of the fatigue of a long day of work in the winter). Intriguingly, while having a croissant with coffee for her coffee break, she was incapable of distinguishing the fragrance of vanilla in the croissant from the ammonia that she had used for cleaning corridors and bathrooms and, when she chewed some candy, it tasted like roast beef. She also preferred not to smoke as the flavor of tobacco was absolutely not anymore the same as before the third vaccination. Surprisingly, a rapid COVID-19 test returned negative. The phenomenon of the depigmentation of the extremities of the limbs and the redness of the irises has already been faced and resolved by other authors [1–4] at the very beginning of the pandemic, and the explanation is now simple and clear. Under slit-lamp biomicroscopy, the researchers revealed a prior bilateral pigment deposition on the corneal endothelium. Afterward, a pigment dispersion in the anterior chamber and a change in the color of the iris demonstrated manifold iris transillumination defects. The patient was the volunteer who had decided to attempt all solutions to eliminate pain and the discoloration of the fingers. She was taking a Bulgarian antibiotic with no Tylenol. (The authors deem that this was studied in order not to let her faint during work because of low blood pressure early in the morning.) The emplastrum that the authors prepared was the recipe of the cosmetic Ceratum 500 produced by the old and reputable company Texia, Turin, Italy: Amni majus oleolyte: 2.3 drachmas; Spiraea ulmaria glycolic extract: 1 drachma; Zingiber officinalis glycolic extract: 0.5 drachmas; Linus usitatissimum seed oil: 2.7 drachmas; sandarac resin (to loosen in alcohol) [5]: 1 drachma; amyl alcohol: 2 drachmas. The emplastrum was to be applicated for ten nights to the upper and lower limbs and covered with cotton gloves. The results were astonishing immediately after the eighth day, that is, after seven nights of applying the ointment. The AA did not demand (or showed any interest in) the pharmaceutical approach, that was the physician’s absolute demesne, as prior covenanted.

Cataract surgery in herpes simplex virus ocular disease.

To investigate the outcomes and complications associated with cataract surgery in eyes with herpes simplex virus (HSV)-related anterior segment ocular disease. Public tertiary center in Auckland, New Zealand. Retrospective observational cohort study. Clinical records of patients diagnosed with HSV-related keratitis and/or anterior uveitis who underwent subsequent cataract surgery in the affected eye were reviewed. Main outcomes measured were visual outcome, complications, and recurrence. 37 eyes of 37 patients were included. Intraoperative complications occurred in 1 patient (2.7%) with iris prolapse. Keratitis or uveitis recurred postoperatively in 17 patients (45.9%) 8 patients (22.5%); 22.5% experienced recurrences in the first year postoperatively. 1 case (2.7%) of postoperative cystoid macular edema and 1 (2.7%) postoperative endophthalmitis occurred. Corrected distance visual acuity at 3 months was >20/50 in 21 patients (70.0%), 20/50 to 20/200 in 4 patients (12.9%), and ≤20/200 in 6 patients (19.4%). Vision improved in 26 eyes (83.9%) and worsened in only 1 eye (3.2%). Risk for recurrent inflammation was associated with a greater number of recurrences prior to surgery (hazard rate [HR] 1.31), time quiescent prior to surgery (HR 0.48), and iris transillumination defect at preoperative assessment (HR 57.66). Cataract surgery in eyes with previous HSV disease may improve visual acuity for most of the eyes but, overall, carries a guarded prognosis, particularly in eyes with corneal scarring. There is a significant risk for recurrent inflammation in the first year postoperatively. If possible, surgeons should ensure a period of disease quiescence prior to surgery.

Bilateral Iris depigmentation, transillumination defects and hypotony in Vogt-Koyanagi-Harada disease.

Bilateral Iris depigmentation, transillumination defects and hypotony in Vogt-Koyanagi-Harada disease.

Severe sequelae in bilateral acute iris transillumination syndrome secondary to the use of oral moxifloxacin: a case report

BackgroundMoxifloxacin is a fourth-generation fluoroquinolone used as a second-line treatment for multiple bacterial infections. Uveitis has been described as an adverse effect related to this medication. Although several case reports have been published describing uveitis and bilateral acute iris transillumination syndrome related to moxifloxacin, we present a unique case of a patient with severe sequelae associated with bilateral acute iris transillumination syndrome secondary to the use of oral moxifloxacin.Case presentationA 45-year-old Colombian hispanic female presented bilateral conjunctival hyperemia, decreased visual acuity, blurred vision, photophobia, and ocular pain after 15 days of treatment with systemic moxifloxacin for an upper tract respiratory infection. The patient presented unilateral anterior chamber pigment dispersion, mydriatic and nonreactive pupils, extensive iris transillumination defects, and secondary glaucoma. Blood and aqueous humor tests were negative for infectious and autoimmune diseases. Moxifloxacin-induced bilateral acute iris transillumination syndrome was diagnosed. Permanent sequelae such as ocular pain, photophobia, and focus difficulty secondary to severe bilateral iridian atrophy and inability of synkinetic reflex were left. Additionally, glaucoma was diagnosed, and Ahmed valve implantation was required.ConclusionsWe should be aware of the possible association between moxifloxacin and bilateral acute iris transillumination syndrome. A detailed anamnesis, adequate examination, and laboratory tests are necessary to reach an early diagnosis and treatment to avoid unnecessary therapies. Larger studies should be carried out to understand the pathophysiology, diagnosis, management, and sequelae of the disease.

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Hermansky–Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies showing absent dense granules, or the identification of a pathogenic genotype in one of 11 associated genes, including HPS1. We report a 2-wk-old male with significant iris transillumination defects, a pale fundus, and mild corectopia found by clinical exome sequencing to have a previously reported pathogenic variant, c.972dupC p.(Met325HisfsTer128), and a variant of uncertain significance, c.1846G>A p.(Glu616Lys), in HPS1. To determine whether his phenotype was consistent with HPS, follow-up studies of whole blood lumiaggregometry and platelet transmission electron microscopy were performed that revealed absent or markedly reduced platelet ATP secretion and virtually absent platelet dense granules, thus confirming the diagnosis. To the best of our knowledge, our case is the first in which the c.1846G>A p.(Glu616Lys) variant is identified in a patient with HPS. In addition, the case also highlights the importance of leveraging appropriate confirmatory clinical testing and reverse phenotyping, which allowed the care team to establish the clinical diagnosis of HPS and reclassify the previously reported variant of uncertain significance in HPS1 to likely pathogenic.

Clinical phenocopies of albinism

To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis. The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of the University of Iowa from 1980 to 2018 who were eventually discovered to have an incorrect diagnosis of OCA were reviewed retrospectively. Eight pediatric patients presenting with clinical features suggestive of OCA which changed to a different diagnosis over time were identified. Presenting clinical features included fair pigmentation of the skin and adnexa (8/8), congenital nystagmus (6/8), decreased visual acuity (8/8), iris transillumination defects (8/8), and foveal hypoplasia (7/8). Of the 8 patients, 4 manifested progressive, preschool-age-onset myopia. Other associated clinical features included hearing loss (3), seizures (1), abnormal chest x-ray (1) and easy bruising (2). During follow-up, additional clinical features and genetic testing proved that they have different clinical entities, namely, Knobloch syndrome, Jeune syndrome, Donnai-Barrow syndrome, Waardenburg syndrome, Aniridia syndrome, Stickler syndrome, and Hermansky-Pudlak syndrome, one of the syndromic types of OCA. Clinical features used to diagnose OCA also occur in other disorders. For a definitive diagnosis of OCA, ancillary/genetic testing must be performed. Clinical features not typically found in association with albinism, such as hearing loss, or early onset, or progressive myopia, may indicate the need for more extensive investigation.

Pigment Dispersion Syndrome

Pigment dispersion syndrome (PDS) is a disorder predominantly affecting young, myopic adults. It is characterised by the liberation of pigment of the iris and deposition of it on various structures of the anterior segment leading to multiple specific findings in slit lamp examination. Typical alterations are a deposition of pigment on the central corneal endothelium, circular iris transillumination defects in the mid periphery, a posterior bowing of the iris and increased pigmentation of the trabecular meshwork. Findings are usually bilateral symmetric. Posterior bowing of the iris causes rubbing of the pigmented iris epithelium against lens structures like zonular fibres with a consecutive liberation of pigment. Trabecular meshwork changes because of pigment deposition reduce aqueous outflow facility with the risk of elevated intraocular pressure and glaucoma. Pigmentary glaucoma (PG) is a secondary open angle glaucoma. Treatment of PG is similar to primary open angle glaucoma, including medical therapy, laser therapy and surgery. Peripheral laser iridotomy was shown to change iris configuration but its efficacy in the prevention of PG has not been confirmed in the literature. The purpose of this paper is to summarize information regarding ocular manifestations of PDS to facilitate an early diagnosis and to present a general view of the treatment of PG.

Management of a large metal intraocular foreign body

A 49-year-old man had been seen 1 month prior by a general ophthalmologist for a healing corneal abrasion. On examination, there was a dense vitreous hemorrhage and a subtle iris transillumination defect suspicious for an occult intraocular foreign body (IOFB; Fig. 1A). A computed tomography scan confirmed an IOFB that extended from the inferior posterior iris to the posterior pole (Fig. 1B). Intraoperatively, the traumatic cataract was removed along with the ruptured capsular bag (Video 1, available online).

This issue of Acta Feb 2021

This issue of Acta Feb 2021

Surgical Management of Glaucoma Secondary to Bilateral Acute Iris Transillumination: A Role for Gonioscopy-assisted Transluminal Trabeculotomy.

PurposeWe report a case of bilateral acute iris transillumination (BAIT) in a young woman associated with ocular hypertension which eventually progressed to glaucoma that was treated with gonioscopy-assisted transluminal trabeculectomy (GATT).Case ReportA 37-year-old otherwise healthy female presented with intermittently red and inflamed eyes and blurred vision. She was treated with oral moxifloxacin months prior to presentation. Iris transillumination defects, a pigmented anterior chamber reaction, the absence of keratic precipitates, and a history of upper respiratory infection treated with an oral fluoroquinolone prompted the diagnosis of BAIT. Intraocular pressure (IOP) remained uncontrolled on multiple glaucoma medications. Following the development of new visual field defects, indicating progression to glaucoma, GATT with cataract extraction was performed.ConclusionAlthough surgical intervention is rare with BAIT, our case demonstrates that GATT may be used effectively in those patients needing better IOP control before considering incisional glaucoma surgery.

Iris Manifestations in Inadequately Treated Chronic Recurrent Vogt-Koyanagi-Harada Disease

ABSTRACT Purpose To describe the iris changes in chronic recurrent Vogt-Koyanagi-Harada Disease (VKH) Methods Retrospective case series. Clinical features of 3 VKH patients who developed bilateral depigmentation of the iris are described. Results Patients had delayed diagnosis and inadequately treated chronic recurrent VKH. Patient 1 presented with bilateral multiple contiguous small granulomatous iris stromal lesions, severe diffuse iris swelling more severe near the iris root, producing peripheral iris undulations. Diffuse iris atrophy and peripheral depigmentation subsequently developed. Patient 2 presented with peripheral iris depigmentation, atrophy of the ciliary zone iris stroma and sparing of the sphincter pupillae, giving a ‘sunflower appearance.’ Patient 3 had extensive iris depigmentation, atrophy, and transillumination defects involving the entire iris. Conclusion Uncontrolled bilateral diffuse granulomatous stromal iris inflammation leads to subsequent depigmentation, transillumination defects and atrophy, beginning in the peripheral iris. Sphincter pupillae is initially spared but complete iris atrophy may develop.

Retrospektywna ocena powikłanych operacji zaćmy z implantacją na torebkę przednią jednoczęściowych zwijalnych soczewek wewnątrzgałkowych

Cel pracy: Ocena odległych wyników leczenia w grupie pacjentów poddanych operacji fakoemulsyfikacji zaćmy z fiksacją na torebkę przednią jednoczęściowych zwijalnych soczewek wewnątrzgałkowych.&#x0D; Materiał i metody: Grupę badaną stanowiło 24 oczu u 24 pacjentów, którzy w latach 2008–2015 zostali poddani operacji fakoemulsyfikacji zaćmy na Oddziale Okulistyki Centralnego Szpitala Klinicznego MSWiA w Warszawie. W grupie tej po śródoperacyjnym przerwaniu torebki tylnej soczewki zastosowano implantację jednoczęściowej zwijalnej soczewki wewnątrzgałkowej do komory tylnej z fiksacją na torebce przedniej soczewki. Oceniano ostrość wzroku, ciśnienie wewnątrzgałkowe, odcinek przedni i tylny oczu przed zabiegiem chirurgicznym, w 1. i 7. dobie po operacji oraz w okresie 6–84 miesięcy od zabiegu.&#x0D; Wyniki: W obserwacji trwającej od 6 miesięcy do 7 lat wykazano poprawę najlepszej skorygowanej ostrości wzroku (BCVA, best corrected visual acuity) średnio o 2 linie na tablicy Snellena oraz stwierdzono: u 25% badanych podwyższone ciśnienie wewnątrzgałkowe lub konieczność modyfikacji leczenia przeciwjaskrowego, u 42% pacjentów dyspersję barwnika z listka barwnikowego tęczówki, u 17% transiluminację tęczówki.&#x0D; Wnioski: Zastosowanie jednoczęściowej zwijalnej soczewki tylnokomorowej do fiksacji na torebce przedniej soczewki w sytuacji uniemożliwiającej jej implantację śródtorebkową u 67% pacjentów pozwoliło na poprawę pooperacyjnej ostrości wzroku. Jeśli decydujemy się na takie rozwiązanie, powinniśmy zapewnić pacjentom możliwość częstych kontroli, gdyż u 25% spośród nich możerozwinąć się jaskra wtórna. W przypadku gdy nie dysponujemy trzyczęściową soczewką tylnokomorową, wyżej opisany sposób fiksacji jednoczęściowej zwijalnej soczewki jest względnie bezpieczną techniką chirurgiczną.

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim is to report the clinical and genetic findings of four Israeli children affected by Knobloch syndrome. Retrospective study of four patients diagnosed with Knobloch syndrome, who underwent full ophthalmic examination, electroretinography, and neuroradiologic imaging. Genetic analysis included whole exome sequencing (WES) and Sanger sequencing. The four patients included in this study had high myopia and nystagmus at presentation. Ocular findings included vitreous syneresis, macular atrophy, macular coloboma, and retinal detachment. One child had iris transillumination defects and an albinotic fundus, initially leading to an erroneous clinical diagnosis of albinism. Electroretinography revealed a marked cone-rod pattern of dysfunction in all four children. Brain imaging demonstrated none to severe occipital pathology. Cutaneous scalp changes were present in three patients. WES analysis, confirmed by Sanger sequencing revealed COL18A1 biallelic null mutations in all affected individuals, consistent with autosomal recessive inheritance. This report describes variable features in patients with Knobloch syndrome, including marked lack of eye pigment similar to albinism in one child, macular coloboma in two children as well as advanced cone-rod dysfunction in all children. One patient had normal neuroradiologic findings, emphasizing that some affected individuals have isolated ocular disease. Awareness of this syndrome, with its variable phenotype may aid early diagnosis, monitoring for potential complications, and providing appropriate genetic counseling.

Pigmentation of optic discs.

A 41-year-old female presented with perception of light in right eye and counting fingers vision in left eye since 6 months. She was a known case of autoimmune hepatitis and bilateral optic neuritis. Fundus examination revealed bilateral disc pallor with peripheral pigmentation of optic discs [Fig. 1a and b]. Optic disc pigmentation can occur in ocular abnormalities like optic disc hypoplasia, distended retinal vessels, iris transillumination defects, ptosis, nystagmus, and siderosis bulbi.[1234] Optic disc pigmentation after an episode of optic neuritis is rare. Optic disc pigmentation is a rare entity and ophthalmologists should rule out ocular and systemic associations.Figure 1: Fundus Photographs of right eye (a) and left eye (b) showing optic disc pigmentationDeclaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.