Advances in Understanding and Management of IgG4-Related Ophthalmic Disease.

Immunoglobulin G4-related ophthalmic disease (IgG4-ROD) is an emerging, immune-mediated fibroinflammatory orbital disease, characterized by tumefactive lesions with noticeable IgG4+ plasma cell infiltration and distinctive pathohistological features. This disease is often associated with elevated serum IgG4 concentrations. IgG4-ROD may affect any ophthalmic tissues, particularly the lacrimal gland, extraocular muscles, and trigeminal nerves. Although the exact pathogenic role of IgG4 antibodies remains unclear, B-cell depleting agents have been reported to be an effective treatment. The diverse clinical manifestations of IgG4-ROD complicate diagnosis, and without prompt treatment, visual-threatening complications such as optic neuropathy may arise. Recent advances in understanding and managing IgG4-ROD have revolutionized the diagnosis and treatment of this emerging disease. This review article aims to provide a comprehensive overview of the latest advancements in the field of IgG4-ROD.

Magnetic resonance diffusion-weighted imaging in lacrimal gland lymphoma versus inflammation: A comparative study.

PURPOSE: To determine the role of diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) in differentiating the inflammatory process and malignant lymphoma of the lacrimal gland. METHODS: A retrospective analysis of all subjects who underwent lacrimal gland biopsy and magnetic resonance (MR) imaging with DWI sequences during a 10-year period at the Sheba Medical Center, Israel. The lacrimal glands' ADC values were documented bilaterally by blinded observers and correlated with the final histology verified diagnoses. RESULTS: Twenty-eight patients were included, with 19 females (68%) with a mean ± SD age of 48.1 ± 25.7 years. The right orbit was involved in 14 cases (50%) and the left in 13 (46%); one patient (4%) had bilateral involvement. Seventeen cases (61%) had a final diagnosis of idiopathic inflammation or dacryoadenitis, and six cases (21%) were diagnosed with lymphoma. Additional diagnoses included pleomorphic adenoma in 3 (11%), adenoid cystic carcinoma, and solitary fibrous tumor. Lower mean ADC values were observed in the lymphoma versus inflammatory group (1.03 × 10-3 Vs. 1.45 × 10-3, P = 0.02). CONCLUSION: Restricted diffusion on MR imaging can serve as a diagnostic tool in the differentiation between inflammatory processes of the lacrimal gland and lymphoma.

Computer-aided diagnosis of eyelid skin tumors using machine learning.

OBJECTIVE: To develop an automated, new framework based on machine learning to diagnose malignant eyelid skin tumors. METHODS: This study used eyelid lesion images from Sheba Medical Center, a large tertiary center in Israel. Before model training, we pretrained our models on the International Skin Imaging Collaboration (ISIC) 2019 dataset consisting of 25,332 images. The proprietary eyelid data set was then used for fine-tuning. The data set contained multiple images per patient, aiming to classify malignant lesions in comparison to benign counterparts. RESULTS: The analyzed data set consisted of images representing both benign and malignant eyelid lesions. For the benign category, a total of 373 images were sourced. By comparison, for the malignant category, 186 images were sourced. For the final model, at sensitivity of 93.8% (95% CI 80.0-100.0%), the model has a corresponding specificity of 73.7% (95% CI 60.0-87.1%). To further understand the decision-making process of our model, we employed heatmap visualization techniques, specifically gradient-weighted Class Activation Mapping. DISCUSSION: This study introduces a dependable model-aided diagnostic technology for assessing eyelid skin lesions. The model demonstrated accuracy comparable to human evaluation, effectively determining whether a lesion raises a high suspicion of malignancy or is benign. Such a model has the potential to alleviate the burden on the health care system, particularly benefiting rural areas, and enhancing the efficiency of clinicians and overall health care.

Association Between Xanthelasma Palpebrarum with Cardiovascular Risk and Dyslipidemia: A Case Control Study.

PURPOSE: To determine whether xanthelasma palpebrarum (XP) is associated with dyslipidemia, cardiovascular disease (CVD), and other systemic conditions in a large population. DESIGN: Case-control study conducted at a single tertiary care center. PARTICIPANTS: Individuals who were examined at a medical screening institute from 2001 through 2020. METHODS: Medical records were reviewed to extract data on ophthalmic evaluations, blood test results, and systemic diagnoses. Patients identified with XP in at least 1 eye constituted the study group. A control group without XP was established matched by age and sex at a 10:1 ratio to allow robust statistical analysis. MAIN OUTCOME MEASURES: Associations between XP and dyslipidemia and CVD were determined. Lipid profiles and diagnoses of dyslipidemia and CVD were compared between the case and control groups. RESULTS: The database included 35 452 individuals, 24 287 of whom were male (69%), with a mean ± standard deviation age of 52.2 ± 12.2 years. The study population included 203 patients with XP (0.6%) and 2030 matched control participants. The prevalence of dyslipidemia diagnosis was similar between the two groups (42% XP vs. 46% controls, P = 0.29), as were the use rates of statins, fibrates, or other cholesterol-lowering medications (48% XP vs. 47% controls, P = 0.88). Lipid profiles were similar between the groups, including total cholesterol (controls median 187 [IQR, 163-211] vs. XP 192 [166-215], P = 0.093), high-density lipoprotein (controls median 48 [IQR, 41-57] vs. XP 47 [42-57], P = 0.65), low-density lipoprotein (controls median 120 [101-141] vs. XP 125 [104-145], P = 0.17), and triglyceride levels (controls median 111 [81-152] vs. XP 105 [81-139], P = 0.16). The rate of CVD was similar as well (10% control group vs. 8.9% XP group; P = 0.56). The prevalences of related conditions, including hypertension, diabetes mellitus, and history of cerebrovascular accident, were similar between groups (24% control group vs. 23% XP group, 14% control group vs. 10% XP group, and 1.3% control group vs. 1% XP group, respectively; P > 0.05). CONCLUSIONS: Xanthelasma palpebrarum was not associated with increased rates of dyslipidemia or CVD. This questions the extent to which XP serves as an indicative marker for heightened systemic risk. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Reoperation for congenital ptosis: characteristics, success rates, and predicting factors.

OBJECTIVE: Reoperation for congenital ptosis has added morbidity. The purpose of the current study was to examine the risk for redo ptosis surgery in patients with congenital ptosis, as well as to find predictive factors for reoperation. METHODS: This is a retrospective, cohort study. Analysis of all patients with congenital ptosis who underwent their first ptosis correction surgery between 2012 and 2021 at Sheba Medical Center was performed. RESULTS: Sixty patients (36 male and 24 female) underwent ptosis surgery for congenital ptosis Twenty nine patients (48.33%) underwent frontalis sling (FS), 13 patients (21.67%) underwent levator muscle (LM) surgeries, 9 patients received levator resection (LR), 4 patients received external levator advancement (LAA), and 18 patients (30%) underwent Müller's muscle-conjunctival resection (MMCR). Eighteen patients (30%) underwent a second ptosis surgery. The unadjusted risk of second ptosis surgery was almost four-fold among males with ptosis relative to females with ptosis (HR, 3.90; 95% CI, 3.67-547; p = 0.033) and higher among younger individuals (HR, 4.23; 95% CI, 3.33-5.62; p = 0.042). Older age was protective against the risk of second ptosis surgery (adjusted OR, 0.50; 95% CI, 0.21-0.60; p < 0.001), whereas male sex was associated with an increased likelihood of second ptosis surgery (adjusted OR, 3.33; 95% CI, 1.64-3.98; p < 0.001). CONCLUSIONS: An increased risk of failure of the first surgery was found among male patients, younger patients, and patients with more severe ptosis before the first surgery. Awareness of those factors is beneficial for clinicians and parents.

Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

Association Between Acquired Punctal Stenosis and Ocular Surface Disease: the Egg and the Chicken Story.

PURPOSE: This study explores the relationship between acquired punctal stenosis (PS) and ocular surface disease (OSD), assessing causal mechanisms and clinical impacts, utilizing a combination of a comprehensive literature review and a detailed analysis of a patient cohort from a tertiary care center. METHODS: Data from 213 PS patients at Sheba Medical Center were retrospectively analyzed, evaluating various OSD symptoms and treatment effectiveness through standardized clinical assessments and statistical tests. RESULTS: Predominantly older and female, many patients exhibited bilateral PS. OSD symptoms were found in 35.2% of all patients. Treatments like punctoplasty with stents significantly alleviated symptoms. Significant associations between treatment modalities and symptom improvement were identified. CONCLUSIONS: PS and OSD have acomplex, bidirectional relationship that complicates treatment outcomes. This study underscores the need for thorough diagnostic approaches and personalized treatments to improve PS management. Further research is essential to deepen understanding of PS-OSD interactions and develop effective therapies.

Corneal Neurotization for Neurotrophic Keratopathy: A Multicentre Experience.

PURPOSE: Corneal neurotization is an emerging technique that offers potential for visual rehabilitation in neurotrophic keratopathy. This study reports on a multicenter experience and outcomes for both direct and indirect methods of corneal neurotization. METHODS: Retrospective case series. Sixteen patients with neurotrophic keratopathy who underwent corneal neurotization across 5 centers in Australia and Israel were identified for inclusion. Corneal neurotization was performed via direct neurotization from the ipsilateral or contralateral supraorbital/supratrochlear nerve or by the use of an interpositional sural nerve graft. Change in corneal sensitivity (measured in millimeters by the Cochet-Bonnet aesthesiometer), visual acuity, and corneal health. RESULTS: Over a mean follow-up period of 31.3 months (range: 3 months-8 years), mean corneal sensitivity improved from 3.6 mm (range: 0-25 mm) to 25.3 mm (range: 0-57 mm). Visual acuity improved on average from 20/380 to 20/260. Twelve of 16 patients (75.0%) improved in at least 2 out of the 3 main outcome measures. Nine patients (56.3%) showed an improvement in visual acuity; 13 (81.3%) showed an improvement in average corneal sensitivity; and 11 (68.8%) showed an improvement in corneal health. There were no intraoperative or postoperative complications. CONCLUSIONS: Corneal neurotization is an emerging surgical treatment option for the management of neurotrophic keratopathy. With appropriate case selection, outcomes are favorable and complication rates are low, for a condition that is otherwise challenging to manage. Patients with severe neurotrophic keratopathy should be considered for this surgical treatment option.

Semiautomated MRI-Based Method for Orbital Volume and Contour Analysis.

PURPOSE: The architecture of the orbital cavity is intricate, and precise measurement of its growth is essential for managing ocular and orbital pathologies. Most methods for those measurements are by CT imaging, although MRI for soft tissue assessment is indicated in many cases, specifically pediatric patients. This study introduces a novel semiautomated MRI-based approach for depicting orbital shape and dimensions. DESIGN: A retrospective cohort study. PARTICIPANTS: Patients with at least 1 normal orbit who underwent both CT and MRI imaging at a single center from 2015 to 2023. METHODS: Orbital dimensions included volume, horizontal and vertical lengths, and depth. These were determined by manual segmentation followed by 3-dimensional image processing software. MAIN OUTCOME MEASURES: Differences in orbital measurements between MRI and CT scans. RESULTS: Thirty-one patients (mean age 47.7 ± 23.8 years, 21 [67.7%]) females, were included. The mean differences in delta values between orbital measurements on CT versus MRI were: volume 0.03 ± 2.01 ml, horizontal length 0.53 ± 2.12 mm, vertical length, 0.36 ± 2.53 mm, and depth 0.97 ± 3.90 mm. The CT and. MRI orbital measurements were strongly correlated: volume (r = 0.92, p < 0.001), horizontal length (r = 0.65, p < 0.001), vertical length (r = 0.57, p = 0.001), and depth (r = 0.46, p = 0.009). The mean values of all measurements were similar on the paired-samples t test: p = 0.9 for volume (30.86 ± 5.04 ml on CT and 30.88 ± 4.92 ml on MRI), p = 0.2 for horizontal length, p = 0.4 for vertical length, and p = 0.2 for depth. CONCLUSIONS: We present an innovative semiautomated method capable of calculating orbital volume and demonstrating orbital contour by MRI validated against the gold standard CT-based measurements. This method can serve as a valuable tool for evaluating diverse orbital processes.

Orbital Development in Children with Retinoblastoma: An Imaging-Based Study.

PURPOSE: To examine whether children treated for Retinoblastoma (Rb) have impaired orbital development. METHODS: A retrospective case series was performed among children with Rb treated at a single medical center from 2004 to 2020. Orbital volumes and measurements were assessed by 3-dimensional image processing software. The main outcome measures were differences in orbital growth between Rb and non-Rb eyes assessed at last follow-up. RESULTS: Among 44 patients included (mean age 16.09 ± 18.01 months), a positive correlation between age and orbital volume was observed only in the uninvolved, healthy eyes (p = .03). In unilateral cases, orbital growth in the horizontal, vertical, and depth planes was smaller on the affected side compared to the healthy eyes (p < .05). Orbits that underwent enucleation showed decreased growth over time compared to those treated conservatively (p = .017). CONCLUSIONS: Orbital growth rate is slower in the orbits of children treated for Rb compared to healthy orbits. Enucleation negatively affects orbital growth.

Prevalence of common and rare ophthalmic findings in adults attending a medical survey institute.

PURPOSE: To examine the ophthalmic data from a large database of people attending a general medical survey institute, and to investigate ophthalmic findings of the eye and its adnexa, including differences in age and sex. METHODS: Retrospective analysis including medical data of all consecutive individuals whose ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects examined at a single general medical survey institute. RESULTS: Data were derived from 184,589 visits of 3676 patients (mean age 52 years, 68% males). The prevalence of the following eye pathologies were extracted. Eyelids: blepharitis (n = 4885, 13.3%), dermatochalasis (n = 4666, 12.7%), ptosis (n = 677, 1.8%), ectropion (n = 73, 0.2%), and xanthelasma (n = 160, 0.4%). Anterior segment: pinguecula (n = 3368, 9.2%), pterygium (n = 852, 2.3%), and cataract or pseudophakia (n = 9381, 27.1%). Cataract type (percentage of all phakic patients): nuclear sclerosis (n = 8908, 24.2%), posterior subcapsular (n = 846, 2.3%), and capsular anterior (n = 781, 2.1%). Pseudophakia was recorded for 697 patients (4.6%), and posterior subcapsular opacification for 229 (0.6%) patients. Optic nerve head (ONH): peripapillary atrophy (n = 4947, 13.5%), tilted disc (n = 3344, 9.1%), temporal slope (n = 410, 1.1%), ONH notch (n = 61, 0.2%), myelinated nerve fiber layer (n = 94, 0.3%), ONH drusen (n = 37, 0.1%), optic pit (n = 3, 0.0%), and ON coloboma (n = 4, 0.0%). Most pathologies were more common in males except for ONH, and most pathologies demonstrated a higher prevalence with increasing age. CONCLUSIONS: Normal ophthalmic data and the prevalences of ocular pathologies were extracted from a very large database of subjects seen at a single medical survey institute.

The Long-Term Effect on Dry Eye of Posterior Approach Ptosis Surgery Vs. Upper Eyelid Blepharoplasty.

PURPOSE: To examine the long-term effect of combined blepharoplasty and Müller muscle-conjunctival resection (MMCR) compared to an upper blepharoplasty procedure on dry eye syndrome. METHODS: This is a Prospective comparative case series. Two groups of patients participated in this study: the blepharoplasty group included adult patients that underwent blepharoplasty at least 3 years earlier and the ptosis group consisting of adult patients that underwent MMCR with blepharoplasty at least 3 years earlier. The parameters that were compared for all patients before the procedure, on postoperative day 90, and at the long-term follow-up were: Schirmer-test 2, tear break-up time (TBUT), fluorescein staining, and lissamine green (LG) staining. RESULTS: The participants included 25 post-MMCR patients with a mean follow-up of 4.94 ± 0.64 years and 15 post-blepharoplasty patients with a mean follow-up of 4.22 ± 0.32 years. There was a significant increase in the postoperative LG and fluorescein staining scores compared to the preoperative scores in the ptosis group (p < .01 and p < .01, respectively) as well as a decrease in postoperative TBUT compared to the preoperative values (p = .044). Those parameters were not significant in the blepharoplasty group. CONCLUSIONS: Patients who underwent MMCR, but not those following upper blepharoplasty, showed signs of dry eye compared to the preoperative status after long-term follow-up. Dry eye signs should be examined before MMCR surgery, and patients should be aware of the high risk of developing dry eye and the need for long-term treatment. Surgeons should carefully consider performing MMCR for patients with severe dry eye.

Orbital Fat Density as a Diagnostic Tool in Pre-Septal and Orbital Cellulitis.

PURPOSE: To evaluate the usefulness of measuring orbital fat density in identifying post-septal involvement when initial differential diagnosis between orbital and periorbital cellulitis (OC and POC) is unclear. MATERIALS AND METHODS: Retrospective study of patients with clinical diagnosis of OC or POC who underwent contrast-enhanced computerized tomographic scans over a span of 10 years. Intraconal orbital fat density was measured with Hounsfield units (HU) in six areas on axial scans consisting of nasal and temporal intraconal sites. These measurements correlated with the initial and final diagnoses. Main outcome measures were HU values at the initial and final diagnoses. RESULTS: Fifty-seven patients were included. Mean HU measurement was -52 ± 18 HU for the involved side vs. -63 ± 13 for the uninvolved side (P < .001). The values were higher in cases of a final diagnosis of OC in the involved side (P < .001). The HU values were significantly higher in the nasal vs. the temporal locations of each orbit bilaterally (P < .001). The initial POC diagnosis of 20 patients (35%) was revised to OC. CONCLUSION: Intraconal fat density measurements can assist in the primary assessment of orbital involvement in patients with an uncertain initial diagnosis, with a HU value higher than -50 is suggestive of orbital involvement.

Elevated serum thyroid stimulating immunoglobulin linked to failure of first-line intravenous methylprednisolone monotherapy in moderate-to-severe thyroid eye disease.

PURPOSE: To assess factors associated with failure of intravenous methylprednisolone (IVMP) monotherapy as the first-line treatment for thyroid eye disease (TED) and to identify patients who might benefit from supplementing mycophenolate mofetil (MMF) to IVMP. METHODS: Data for all patients with TED treated with IVMP according to the EUGOGO protocol in our center between 2016-2021 were retrospectively analysed. RESULTS: Forty-seven patients (mean age 51.32 ± 14 years, 27 females) were enrolled. The mean time from first reported symptoms to first IVMP treatment was 12.1 ± 5.59 months (range 0-120). The mean clinical activity score (CAS) before treatment and at a mean of 5 and 12.2 weeks after treatment initiation was 6.00, 2.96, and 1.81, respectively (P < 0.01). Twenty-one patients (44.68%) were recommended second-line treatment: nine due to no response or worsening of CAS, six due to partial response, four with good response but early relapse after completion of treatment, and one due to late relapse. Eighteen of those 21 patients received second-line treatment which included rituximab (n = 7), MMF (n = 6), a second course of IVMP (n = 4), and tocilizumab (n = 1). Serum thyroid-stimulating immunoglobulin (TSI) levels were higher in patients who received second-line treatment compared with patients who responded well to first-line IVMP monotherapy at presentation (2135% vs 1159%, P = 0.05) and after completion of first-line treatment (2201% vs. 986%, P = 0.043). DISCUSSION: TED patients requiring second-line treatment after failed IVMP monotherapy had higher baseline and post-first-line treatment serum TSI levels. Those with elevated TSI may benefit from dual therapy (IVMP and MMF) and require closer monitoring.

Glaucoma Prediction Models Based on Ocular and Systemic Findings.

INTRODUCTION: Our aim was to explore the impact of various systemic and ocular findings on predicting the development of glaucoma. METHODS: Medical records of 37,692 consecutive patients examined at a single medical center between 2001 and 2020 were analyzed using machine learning algorithms. Systemic and ocular features were included. Univariate and multivariate analyses followed by CatBoost and Light gradient-boosting machine prediction models were performed. Main outcome measures were systemic and ocular features associated with progression to glaucoma. RESULTS: A total of 7,880 patients (mean age 54.7 ± 12.6 years, 5,520 males [70.1%]) were included in a 3-year prediction model, and 314 patients (3.98%) had a final diagnosis of glaucoma. The combined model included 185 systemic and 42 ocular findings, and reached an ROC AUC of 0.84. The associated features were intraocular pressure (48.6%), cup-to-disk ratio (22.7%), age (8.6%), mean corpuscular volume (MCV) of red blood cell trend (5.2%), urinary system disease (3.3%), MCV (2.6%), creatinine level trend (2.1%), monocyte count trend (1.7%), ergometry metabolic equivalent task score (1.7%), dyslipidemia duration (1.6%), prostate-specific antigen level (1.2%), and musculoskeletal disease duration (0.5%). The ocular prediction model reached an ROC AUC of 0.86. Additional features included were age-related macular degeneration (10.0%), anterior capsular cataract (3.3%), visual acuity (2.0%), and peripapillary atrophy (1.3%). CONCLUSIONS: Ocular and combined systemic-ocular models can strongly predict the development of glaucoma in the forthcoming 3 years. Novel progression indicators may include anterior subcapsular cataracts, urinary disorders, and complete blood test results (mainly increased MCV and monocyte count).

Ocular manifestations in Koolen-de Vries syndrome: an international study.

OBJECTIVES: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations. METHODS: This was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions. RESULTS: Sixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions. CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.