Posterior Subcapsular Cataract Research Articles

Incidence of cataract and glaucoma in children with nephrotic syndrome undergoing steroid treatment

Background Nephrotic syndrome (NS) is by far, the most common glomerular disease in childhood period and is considered as one of the main aetiologies of child exposure to systemic steroids. High-dose corticosteroids for NS, are usually prescribed by pediatrians for a long period. Posterior subcapsular cataract (PSC) and increased intraocular pressure (IOP) are the two most common ocular complications associated with steroid treatment. The exact incidence, prevalence, severity, and time of cataract and glaucoma onset in those childrens have not yet been thoroughly investigated. Aim Evaluating the incidence of cataract and glaucoma in children with NS receiving steroid treatment during and after treatment cessation. Patients and methods This cohort prospective study was done at the Pediatric Nephrology Clinic at Zagazig University Children’s Hospital in co-operation with the Department of Ophthalmology, Zagazig University, for detailed eye examination. Totally 48 children with primary NS who received corticosteroids either as a single treatment or with other treatment modalities for more than 3 months were included in our study. Clinical features plus laboratory tests confirmed by renal biopsy were the main parameters used in the diagnosis of NS. Results Posterior subcapsular cataracts (PSC) were observed in 14 patients (29.2%). All studied patients had normal intraocular pressure ranging between 10 and 20 mmHg in both eyes during the follow-up period with no glaucomatous optic disc changes observed. Conclusion A significant number of children with NS treated with steroids are liable to develop cataracts and glaucoma that may progress and need surgery to preserve vision, so they have to be well diagnosed and followed-up.

Evaluation of the frequency of ABO and Rh-Hr blood-group systems in different acquired cataracts type

ObjectivesThis study evaluated the relationship between acquired cataract’s different types and the ABO and Rh blood classes.MethodsOverall, 520 patients, by randomized sampling method, participated in this retrospective cross-sectional study. After reviewing the patient’s medical records and laboratory results, the patient’s demographics, ABO group, Rh, and cataract type were documented.ResultsA total of 520 patients were included in the research, with a mean age of 67.57 ± 11.85. Most of them were female (n = 286, 55%). Mix (n = 230, 44%) and nuclear sclerotic (NS) (n = 167, 32%) cataracts were the most common types. The posterior subcapsular cataract (PSC) prevalence in females was significantly higher than in males (16.1% vs.7.3% p = 0.002). Also, men had more NS cataracts than females (89, 38% vs. 78, 27.3%) (p = 0.009). Patients with PSC were significantly younger than others (all p-values < 0.001). Our results showed that cataract types are independent of blood group types and Rh (P > 0.05).ConclusionAlthough our findings showed that cataract types are independent of blood group types and Rh, they can be compared with future studies on the association of other Blood-Group Systems in developing acquired cataracts.

Screening of Oral Tamoxifen Ocular Toxicity in Breast Cancer Patients

Background Breast cancer is one of the leading cancer types among females worldwide. Prevalence of breast cancer is reported to be the second most common among women. Several treatment lines were prescribed in treatment of breast cancer besides surgical, radiological interventions. Tamoxifen is one of the medical treatments used in postsurgical prophylaxis of breast cancer. Various visual problems were reported with tamoxifen therapy. These include posterior subcapsular cataracts, color vision changes, optic neuritis, and intra-retinal crystals. Aim of the Work The aim of the work was to screen for ocular toxicity of tamoxifen used for treatment of breast cancer patients having no ophthalmic complains and treated with tamoxifen for at least 2 years with dose (20mg per day). Patients and Methods We included 50 female patients with breast cancer treated with Tamoxifen therapy for at least 2 years then we divided them into two groups regarding duration of tamoxifen intake from (2-4) years group and from (5-8) years group, all subjects underwent complete careful history taking and full ophthalmological examination, BCVA was measured using Snellen chart with conversion to log. MAR notation for statistical analysis. Results There was significant correlation between duration of tamoxifen intake and RPE mottling, no other significant correlations were detected, there was no significant difference in mean of BCVA, IOP, cup values, disc parameters, GCC thickness, RNFL zones between the two groups except for (inferior quadrant), macular thickness except in (superior quadrant), OCT layers thinning shows RNFL affection in (34%) of cases, GCC affection in (48%) of cases and macula affection in (64%) of cases, color vision defects was found in (12%) and electrophysiological test changes found in few cases. Conclusion Tamoxifen therapy causes minimal affection on the ocular structure and function, OCT layers thinning (34-64% of cases) preceed the clinical changes this highlights the importance of OCT examination in those patients to evaluate tamoxifen toxicity and further studies will be needed to evaluate reversibility of these changes after stoppage of therapy, main ocular complications associated with tamoxifen therapy were correlated to duration of treatment.

Sturge Weber syndrome and rod cone dystrophy.

A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes showed bone-spicule pigmentation throughout the fundus with arteriolar attenuation. He had a history of seizures and computed tomography (CT) scan of the brain revealed occipital lobe calcifications. This case describes an uncommon occurrence of rod cone dystrophy in a patient with Sturge Weber syndrome.

Evaluation of a retinal oximetry image quality indicator in patients with cataract.

To evaluate a new automated retinal oximetry image quality indicator with cataract as a clinical model. Sixty-one eyes in 61 patients were imaged by the Oxymap T1 Retinal Oximeter at baseline and 25 eyes were also examined 3 weeks after cataract surgery. Image quality (0-10 on a continuous scale) was compared with standardized AREDS cataract grading and Pentacam lens densitometry. Associations with retinal oximetry measurements and visual acuity were examined. Image quality correlated with total, nuclear and posterior subcapsular cataract grades (ANOVA, p < 0.05), tended to be associated with lens densitometry and it improved from 4.3 ± 1.4 to 5.7 ± 1.0 (p < 0.05) after cataract surgery. Very low image quality, below 3, led to vessel detection failure in retinal oximetry images. Higher image qualities were linearly associated with higher measured retinal oxygen saturations (r = 0.52 in arteries and r = 0.46 in veins; p < 0.001). Retinal oximetry image quality deteriorated with increasing cataract density and improved after cataract surgery, supporting its use as a measure of optical clarity. The numerical quality indicator demonstrated a threshold below which images of poor optical quality should be discarded. Image quality affects the estimates of retinal oximetry parameters and should therefore be included in future analyses.

Case Report: Optical coherence tomography angiography findings in radiation retinopathy

We report the observation of a 31-year-old patient followed for a nasopharyngeal carcinoma since 2009, treated by locoregional radiotherapy, with a cumulative dose of 70 Gray. This case presented all ocular complications of radiotherapy; radiation retinopathy (RR), which is the most severe complication, could be diagnosed earlier and have a better prognosis if optic coherence tomography angiography (OCTA) was performed. She presented with a progressive decline in bilateral visual acuity. Ophthalmologic examination revealed bilateral posterior subcapsular cataract, radiation retinopathy, and optic neuropathy. The OCT B-scan showed more pronounced macular edema in the right eye. The OCTA revealed enlargement of the central avascular zone and loss of the deep and superficial retinal vascular network. The patient received three consecutive monthly intravitreal injections of anti-vascular endothelial growth factor (VEGF), without improvement in visual acuity. The aim of this case report is to present the contribution of OCT-A in the diagnosis of radiation maculopathy, and attribute these changes to ischemia at the level of the retinal vascular network.

Atypical associations of retinitis pigmentosa: A case series

Central visual acuity in retinitis pigmentosa (RP) can be compromised by posterior subcapsular cataract, cystoid macular edema, epiretinal membrane, and macular hole formation. However, features like posterior pole neovascularization, central serous chorioretinopathy (CSCR), and proliferative diabetic retinopathy (PDR) are rare in RP. We report three such cases of atypical associations of common retinal diseases in RP that were detected on multimodal imaging.

Optical coherence tomography features of lightning-induced macular injury

A 15-year-old boy with history of lightning exposure presented with sudden onset diminution of vision in left eye. The best-corrected visual acuity (BCVA) was 6/6 in right eye and 6/18 in left eye. Anterior segment examination was normal. A yellow dot was seen at the fovea in the left eye. Optical coherence tomography (OCT) showed a vertical hyperreflective band at fovea in right eye and low-reflective dome-shaped elevation, horizontal hyperreflective band, and disruption of ellipsoid zone (EZ) in left eye. Patient developed an episode of acute anterior uveitis in the left eye during the follow-up. At 6-month follow-up visit, BCVA in the right eye was 6/6 and in left eye was 6/36. Left eye developed grade 2 posterior subcapsular cataract during the follow-up. Extensive EZ loss and hyporeflective spaces were noted on OCT in the left eye.

Lens Thickness and Associated Factors among Age-Related Cataracts Patients in Chattogram, Bangladesh

Background: Lens Thickness (LT) is one of the important parameters in ocular biometry. The observation of LT among cataract patients is of great importance from clinical and pathophysiological perspectives. The study aimed to investigate the relationship between the LT and lens density changes concerning age, types and densities of agerelated cataracts in a sample of the Bangladeshi population. Materials and methods: It is a prospective observational case control study. A total of 2066 (n = 2066) participants were included in the study from an Eye Hospital in Chattogram, Bangladesh. All participants underwent standard vision testing. LT was evaluated using the immersion technique with A-scan ultrasound. The types and density of cataracts were identified with a slit-lamp attached to a video camera. Cataract was classified morphologically into cortical, nuclear, and posterior sub-capsular types. Nuclear cataract was observed under oblique illumination, and retro-illumination was used to assess cortical and posterior sub-capsular cataracts. The density of the lens nucleus was graded as Emery and Little classification. Results: Ages of the study population ranged from 40-95 years, with a mean age of 62.76 ± 9.43 years. Of the participants, 937 (45.4%) were males and 1129 (54.6%) were females. The mean LT was 4.15±0.86mm. The LT was greater in older (³60 years) patients than in the younger (41-59 years) (4.21±0.85mm versus 4.01±0.86mm, p &lt; 0.001). The mean LT in male and female patients were, respectively, 4.18±0.89mm and 4.12±0.84mm with any statistical significance (p&lt;0.097). The mean LT was the highest in nuclear cataracts (4.79 ± 0.39mm), followed by cortical (3.9 ± 0.73mm) and posterior sub-capsular cataracts (4.16 ± 0.93mm). The relation between LT and the Grade of cataract was insignificant (p&lt;0.078). Conclusion: In this large Bangladeshi age-related cataractous population, we found that thicker lenses are associated with older age and nuclear cataracts. IAHS Medical Journal Vol 5(2), Dec 2022; 58-61

Prevalence of refractive errors in population aged 50 years and over: The Gilan eye study.

To describe the prevalence of refractive error (RE) and its association with other environmental and health factors among population aged ≥50 years who lived in Gilan, Iran in 2014. In this population-based cross-sectional study, 3281 individuals aged ≥50 years living in Gilan for at least 6 months were enrolled. The prevalence of different types of REs including myopia (spherical equivalent (SE)≤-0.50D), high myopia (SE ≤ -6.00D), hyperopia (SE≥ + 0.50D), high hyperopia (SE≥ + 3.00D), astigmatism (cylinder < -0.50D) and high astigmatism (cylinder < -2.25D) were determined. Anisometropia was defined as the SE difference of ≥1.00D between the two eyes. Associated factors including age, body mass index (BMI) and education were also studied. 2587 eligible individuals (58% female subjects) with the mean age of 62.6 ± 8.8 years participated (87.6% response rate). The prevalence of myopia, hyperopia and astigmatism was 19.2%, 48.6% and 57.4%, respectively. 3.6% high hyperopia, 0.5% high myopia and 4.5% high astigmatism were identified. The positive simultaneous effects3 of older age (Odds Ratio (OR) = 3.14), nuclear (OR = 1.71) and posterior subcapsular (OR = 1.61) cataracts as well as the negative effects of higher levels of education (OR = 0.28) were obtained on myopia. Higher BMI was found as a risk factor for hyperopia (OR = 1.67), while older patients were less likely to be hyperopic (OR = 0.31). Higher incidence of myopia and astigmatism was found in patients aged over 70 years. It was also found that patients at older ages who suffered with cataracts were at a higher risk of myopia, while elderly people with greater BMI were at a higher risk of hyperopia.

Objective Quantification of Lens Opacity in Posterior Subcapsular Cataracts Using IOL Master 700 and CASIA-2

To objectively quantify the lens opacity of posterior subcapsular cataracts (PSCs) using the swept-source optical coherence tomography (SS-OCT)-based devices including IOL Master 700 and CASIA-2. Prospective cross-sectional study. A total of 101 eyes of 101 patients with PSCs were enrolled in Zhongshan Ophthalmic Center from 2021 to 2022. The IOL Master 700 and CASIA-2 were used to obtain lens images. The average posterior subcapsular density (APSD) and the maximum posterior subcapsular density (MPSD) within the pupil area (radius: 3 or 5 mm) were measured by Image J. Spearman and Pearson correlation analysis were performed to assess the associations. APSD-3mm, APSD-5mm, MPSD-3mm, and MPSD-5mm had positive correlations with best corrected visual acuity (BCVA; r=0.658, 0.641, 0.583, and 0.572, P < .001, respectively), all of which were higher than the correlation between LOCS-III P score and BCVA (r=0.548, P < .001). Particularly, the APSD-3mm showed the highest correlation with BCVA. APSD could distinguish severe PSCs (LOCS-III P score ≥ 5) with an area under the receiver operating characteristic curve (AUC) of 0.836 (95% CI 0.743-0.930) for APSD-3mm and with AUC 0.758 (95% CI 0.643-0.873) for APSD-5mm, highlighting the better performance of APSD-3mm.The APSD-3mm of IOL Master 700 correlated strongly with that of CASIA-2 (r=0.789, P < .001). This study presented an objective method for quantifying PSCs using IOL Master 700 and CASIA-2. APSD-3mm can be used as a new accurate and objective index for the quantitative assessment of PSCs.

Complexity of Handling Posterior Subcapsular Cataract Case

Cataracts or “katarrhakies” in Greek means waterfall. This term is used because the vision in cataract patients is described as a closed waterfall due to the clouding of the lens. PSCs (posterior subcapsular cataracts) might cause symptoms within months. and can cause worse visual disturbances compared to other types of senile cataracts. A 63-year-old man came to the Department of Ophthalmology at RSUD Dr. Zainoel Abidin with a chief complaint of blurry vision in both eyes since two years ago and felt more severe in the left eye. The patient also complained of difficulty seeing an object and reading at close range. On physical examination, a cloudy lens was found in the central posterior part of his both eyes the iris shadow test of both eyes was positive. The patient was diagnosed with posterior subcapsular cataract oculus dexter and sinister (ODS). The patient was planned to undergo phacoemulsification and intraocular lens (IOL) implantation in his left eye. The patient came back in the next couple weeks after surgery and it shows that his left eye visual acuity was 20/20 and the ocular anatomy was in good condition. Nowadays, phacoemulsification is still the first choice in PSC therapy. This type of cataract is difficult to treat because the cataract is still thin and the lens is mostly transparent, but it often causes glare and vision impairment which can interfere with daily activities.

Эффективность субконъюнктивального введения триамцинолона ацетонида в лечении хронического рецидивирующего эписклерита, не поддающегося стандартной терапии

Aim. To evaluate the safety and efficacy of the treatment of chronic recurrent episcleritis, not amenable to the standard treatment regimen, by subconjunctival injections of triamcinolone acetonide. Material and methods. Three patients with recurrent episcleritis, low efficacy of treatment with local steroid, non-steroidal anti-inflammatory drugs and a disease duration of more than 6 months were under observation. All were injected with a prepared solution of triamcinolone acetonide (diluted 1:1 with physiological solution 0.9%) subconjunctivally, once according to the original method. No other drugs were prescribed. A comprehensive examination and assessment of the functions of the visual analyzer was carried out before and after the administration of the drug on the 3rd, 7th, 21st days, 3, 6 months. Results. All patients achieved a pronounced clinical effect and there were no relapses throughout the entire observation period. Conclusion. Subconjunctival injections of triamcinolone acetonide proved to be effective and safe in the treatment of episcleritis resistant to the standard treatment regimen. Side effects of the drug (complicated posterior subcapsular cataract, persistent ophthalmohypertension, etc.) were not detected with this method of treatment. Keywords: episcleritis, long-acting glucocorticosteroids, triamcinolone, triamcinolone acetonide, subconjunctival injection

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India

ObjectiveThis study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia.MethodsWhole-exome sequencing (WES) was performed on the DNA of the proband, and variants observed were validated in the rest of the affected and unaffected family members by Sanger sequencing. Different bioinformatics tools were applied to access the pathogenicity of the observed variant.ResultsA nonsense mutation i.e., c.555G > A (p.Trp185Ter) in C8orf37 in homozygous form, has been identified that segregated with the disease in the affected members. c.555G > A was absent in unaffected family members and in 107 ethnically matched controls, therefore ruling out its possibility of being a polymorphism.ConclusionsPresent study identifies a nonsense mutation (c.555G > A) at codon 185 in C8orf37 linked with arRP, early macular degeneration, posterior subcapsular cataract, and myopia. The identical mutation has previously been reported in a Pakistani family with isolated RP and in a Chinese family with RP and macular degeneration. This variable expressivity of the identified mutation c.555G > A in C8orf37 in the analyzed Indian family may be attributed to the presence of the modifier alleles. Also, Trp185 might be a mutation hotspot in Asian arRP patients and in the future, p.Trp185Ter in C8orf37 may be tested during initial screening in arRP cases especially belonging to a similar population.

Risk Factor of Cataract Formation after Penetrating Keratoplasty

Introduction: Post-corneal graft cataract is a not negligible complication. Its occurrence rate varies from 0.4% (2) to 32% (3) according to series, it can present itself in the form of nuclear, cortical and posterior capsular opacities. Its treatment corresponds to a usual cataract surgery by phacoemulsification with implantation in the capsular bag. Our work aims to identify and analyze the risk factors for the development of cataract after keratoplasty. Materials and Methods: This is an analytical study conducted within the Ophthalmology Service B at the Rabat Specialty Hospital on 58 patients who underwent penetrating keratoplasty. The main criteria studied were: age; sex; indication for surgery and average dose of corticosteroids. Statistical calculations were made using the SPSS 10.0 software for Windows. A p value &lt;0.05 was considered significant. The average follow-up was 24 months. Results: Cataract after corneal transplantation was observed in 10 cases (17.2%). The mean age at the time of cataract diagnosis was 55 years, with extremes ranging from 40 to 70 years? It developed in 7 of the 33 female cases (21%), and in 3 of the 25 male cases (12%). The onset delay ranged between 16 and 24 months, with a mean delay of 18 months after the penetrating keratoplasty. The most frequent type was nuclear cataract (8 of 10 eyes, 80%), posterior subcapsular cataract developed in one eye (10%) and cortical-nuclear cataract in one eye (10%). It developed in 4 of the 9 cases operated for corneal dystrophies (44.4%), in 3 of the 11 cases operated for sequelae of infectious keratitis (27.2%), in 2 of the 13 cases operated for posttraumatic opacity (15%) and in 1 of the 20 cases operated for keratoconus (5%). In our study, only age and operative indication of the graft were considered as risk factors for the development of cataract after corneal transplantation (p&lt;0.05). The preoperative visual acuity, the patient’s sex.

Age-related cataract - Prevalence, epidemiological pattern and emerging risk factors in a cross-sectional study from Central India

Purpose: To study the epidemiological pattern, prevalence, types, and correlates of age-related cataracts in a tertiary care center in central India. Methods: This hospital-based single-center cross-sectional study was conducted on 2,621 patients diagnosed with cataracts for 3 years. Data pertaining to demography, socio-economic profile, cataract grading, cataract types, and associated risk factors were evaluated. Statistical analysis using unadjusted odds ratio (OR) and multivariate logistic regression was performed, with P-value <0.05 considered significant with the power of the study being 95%. Results: The commonest age group affected was 60–79 years, closely followed by the 40–59 years age group. The prevalence of nuclear sclerosis (NS), cortical (CC), and posterior subcapsular cataract (PSC) was found to be 65.2% (3,418), 24.6% (1,289), and 43.4% (2,276), respectively. Among mixed cataracts, (NS + PSC) had the highest prevalence of 39.8%. Smokers were found to have 1.17 times higher odds of developing NS than non-smokers. Diabetics had 1.12 times higher odds of developing NS cataracts and 1.04 times higher odds of developing CC. Patients with hypertension showed 1.27 times higher odds of developing NS and 1.32 times higher odds of developing CC. Conclusion: The prevalence of cataracts in the pre-senile age group (<60 years) was found to have increased significantly (35.7%). A higher prevalence of PSC (43.4%) was found in studied subjects, as compared to the data of previous studies. Smoking, diabetes, and hypertension were found to have a positive association with a higher prevalence of cataracts.

Gyrus atrophy of the choroid and retina. A case presentation

Gyrus atrophy is a rare autosomal recessive hereditary disease secondary to a mutation of the OAT gene on chromosome 10 which results in a deficiency of the mitochondrial enzyme ornithine aminotransferase that causes a 20-fold increase in serum concentrations of the amino acid ornithine. The disease is characterized by atrophic choroid and retinal patches that begin in the peripheral retina in the first decade and later spread centrally to the macular area, causing cystic changes and posterior subcapsular cataracts. The clinical picture is characterized by night blindness, constriction of the visual field and finally decreased central vision and blindness. In this article, we present the case of a 53-year-old woman with no significant hereditary antecedents who presented a decrease in visual acuity after several months of evolution.

Surgical Rehabilitation of a Posttraumatic Iris Cyst, Cataract and Astigmatism Patient

Injuries cause serious disturbance of the form and function of the organ of vision due to the damage and accompanying or remote complications and therefore have a high proportion to the structure of low vision, blindness and disability. One of the complications of penetrating wounds of the eye is iris cysts. Iris cyst can increase and cause pupillary block, secondary glaucoma, uveitis, corneal dystrophy, and therefore it requires surgical intervention. The goal of surgical treatment of an iris cyst is to ensure complete removal of the cyst.Objective: to estimate the clinical and functional results of treatment in a posttraumatic iris cyst, posterior subcapsular cataract and myopic astigmatism patient.Patient and methods. Patient B., 49 years old with posttraumatic retention iris cyst, posterior subcapsular cataract, compound myopic high astigmatism was examined. To determine the tactics of surgical treatment of the patient, a complex of General ophthalmology was performed (visometry, IOP measurement, autorefractometry, biomicroscopy, ophthalmoscopy), as well as special (B-scanning, optical coherence tomography of the retina) research methods. The follow-up period was 1 year.Results and discussion. To improve visual functions and prevent the development of secondary glaucoma, the patient was offered surgery — excision of the iris cyst and cataract phacoemulsification with toric intraocular lens. Simultaneous carrying out of two stages of the operation reduced the risks of postoperative complications and shorten the rehabilitation period.Conclusion. Positive optical and therapeutic effects were achieved as a result of the surgical treatment 44 years after an open eye injury: the eye is calm, the iris cyst is not detected, visual acuity has increased. The postoperative period showed the saving the stable and high visual and functional result with no recurrence of the iris cyst.

Advanced ocular heterotopic bone formation in a guinea pig

Heterotopic bone formation (HBF) of the ciliary body is most often reported in the guinea pig (Cavia porcellus), with a prevalence of eight of 1000.1 The most common treatment for ocular HBF is observation without any interventions, and the prognosis is generally considered favourable.2, 3 However, given this case report, once HBF is diagnosed with the lesion covering the entire angle, attention should be paid to glaucoma. Although a possible association between HBF and glaucoma has been raised,4 to date this possibility has received relatively little attention, based on published reports. Normal IOPs for the guinea pig are reported to be 18.3 ± 4.6 mmHg.5 The case described here involves a 5-year-old guinea pig (Elm Hill pigmented strain), which was diagnosed with bilateral HBF approximately 1.5 years ago. Its first 7-month follow-up history has been reported.6 The lesions and intraocular pressures (IOPs) of both eyes were monitored regularly. One year after initial detection, the lesion was most advanced in the right eye, encompassing 360 degrees of the iridocorneal angle (Figure 1a,b). Vitamin C can lead to calcium deposition, which causes HBF.7 Consistent with the latter interocular difference, the IOP of the right eye measured by rebound tonometry (iCare; Tonolab) was initially found to be higher than that of the left eye, although IOPs of both eyes were within the normal range (e.g., 15.3 ± 0.6 vs. 10.3 ± 1.5 mmHg) during the first year. Follow-up IOP recordings revealed significant fluctuations, with IOPs of the right eye being frequently outside the normal range from time to time (e.g., 48.3 ± 0.58 vs. 15.0 ± 1.0 mmHg), and IOPs of the left eye showing a similar, albeit, delayed trajectory. Subsequent electron microscopy analysis of the lesions revealed numerous small holes (pores) in the bone deposits (Figure 1c,d), which hint at bone remodelling8 and may underlie the IOP fluctuations. Although posterior subcapsular cataracts impaired the quality of optical coherence tomography (OCT) images (Figure 2), there is an apparent peripapillary depression adjacent to the optic nerve head, which together with the progressive elevation in IOP, compared to initial OCT images and IOP,6 is consistent with a diagnosis of glaucoma. In conclusion, periodic measurement of IOP is recommended after a diagnosis of HBF, due to the high risk of obstruction of the iridocorneal angle with disease progression. As advanced ocular heterotopic bone formation has the potential to increase intraocular pressure and ultimately cause glaucoma, periodic intraocular pressure monitoring is recommended. So Goto and Christine F. Wildsoet conceived and designed the project. So Goto and Qiurong Zhu acquired the data. SG analysed and interpreted the data. So Goto and Christine F. Wildsoet wrote the paper. So Goto, Qiurong Zhu and Christine F. Wildsoet reviewed the paper. The authors thank Kelly Jensen and Jennifer Frohlich (Clinical Veterinarians, UC Berkeley) for overseeing veterinary care of the guinea pig during this case. This study is supported by International Retinal Research Foundation (So Goto) and National Eye Institute Grants R01EY012392 (Christine F. Wildsoet). The authors declare no conflicts of interest. All animal care and treatments used in this study conform to the ARVO Statement for the Use of Animals in Ophthalmic and Vision Research. Experimental protocols were approved by the Animal Care and Use Committee of the University of California, Berkeley. What is your diagnosis, based on the ocular anterior segment changes evident in this guinea pig (Figure 1)? ANSWER: Ocular heterotopic bone formation. How do you think intraocular pressure (IOP) is likely to change if the iridocorneal angle, which is the site of a major drainage channel for aqueous humor, is fully occupied, that is, around its circumference by bony deposits, as in this case? A. Elevate B. Decrease C. No change Answer: A Located in the angular recess where the peripheral posterior corneal and anterior surface of the iris meet, known as the iridocorneal angle, are drainage structures, including the trabecular meshwork, through which aqueous humor escapes from the eye into episcleral veins and beyond. The importance of this drainage route for regulating IOP is demonstrated by the elevation in the latter, resulting from the injection of microbeads or oil into the iridocorneal angle, as used in animal models of glaucoma, while in humans, accumulation of pigment granules in the iridocorneal angle is also known to elevate IOP. In the current case, bony lesions/deposits appear to almost fully occupy the iridocorneal angles of both eyes, that is encompassing 360 degrees, offering a likely explanation for the observed elevated IOPs, with dynamic remodelling of the bone deposits suggested by observed fluctuations in IOP.

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

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. Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. 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%). 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.