Red Reflex Research Articles

Completing the red reflex examination (RRE) of the eyes to screen for ophthalmologic abnormalities is an essential component of the newborn physical examination. An abnormal RRE should prompt consultation with an ophthalmologist to perform a formal ocular examination. Chart review at a level IV neonatal intensive care unit (NICU 1) noted a low rate of documentation that the RRE was completed prior to discharge for eligible patients and suboptimal rates at three other NICUs of varying acuities and operational structures (NICUs 2, 3, 4). This prompted the initiation of a quality improvement initiative to improve RRE completion before discharge. A driver diagram was generated to guide testing and implementation of interventions including ophthalmoscope placement, clinician education and electronic health record (EHR) reminders over eight plan-do-study-act cycles at NICU 1. Using the knowledge gained from NICU 1, two impactful tests of change were utilised to perform a 2 ∧ 2 factorial planned experiment (PE) at NICUs 2, 3 and 4. This initiative led to sustained improvement in completion of the RRE from baseline 66.8% (13-month period) to 100% (22-month intervention period with special cause noted) at NICU 1 with two abnormal RREs detected. The PE using established factors from NICU 1 at NICUs 2, 3 and 4 demonstrated that the combination of ophthalmoscope placement optimisation plus EHR RRE trigger led to 100% RRE compliance at all sites. This initiative led to a sustained improvement in RRE completion at NICU 1. PE at three other NICUs of varying types and staffing structures identified a synergistic set of change factors, which may yield the greatest improvement across the spectrum of NICUs.

Background and Objectives: Children with autism spectrum disorder (ASD) often experience visual problems, yet their ophthalmic health remains underexplored due to testability challenges and limited-service access. This study evaluated ophthalmic screening outcomes in children with ASD and examined whether autism severity influenced ocular findings or cooperation during examinations. Materials and Methods: This cross-sectional study included 210 children with ASD (mean age 8.18 ± 4.99 years; 83.3% male). Examinations were conducted in an autism education center using non-contact methods: stereopsis (LANG I stereotest; LANG-STEREOTEST AG, Küsnacht, Switzerland), cover–uncover, and Hirschberg tests for strabismus, Spot Vision Screener (Welch Allyn Inc., Skaneateles Falls, NY, USA) for refractive errors, and Brückner test for red reflex. Autism severity was assessed with the Turkish version of the Adapted Autism Behavior Checklist (AABC). Results: Refractive errors were identified in 22.3% of participants: astigmatism in 15.2%, myopia in 5.2% (including 3 high myopia), and hyperopia in 1.9%. Strabismus was present in 11.9%, most commonly intermittent exotropia. Nearly half (49.5%) could not complete stereopsis testing, and a weak positive correlation was observed between AABC scores and the higher absolute spherical equivalent (SE) value between the two eyes (r = 0.173, p = 0.044). Children unable to complete stereopsis testing had significantly higher AABC scores (22.66 ± 9.69 vs. 13.39 ± 9.41, p < 0.001). Notably, 50 children (23.8%) had never undergone an eye examination prior to this study. Conclusions: Ophthalmic findings, particularly astigmatism and strabismus, are common in children with ASD. Greater autism severity was associated with reduced testability and modestly worse refractive error status. These findings suggest that tailored, accessible eye-care approaches and systematic vision screening may help to reduce overlooked visual problems and support more equitable care for children with ASD.

Overcoming Corneal Opacity Challenges: Visualization Assessment of 3D System With Coaxial Illumination in Cataract Surgery.

IntroductionUncorrected refractive errors are a leading cause of preventable vision impairment globally, particularly affecting individuals in low-resource regions where timely diagnosis and screening access remain significant challenges despite the availability of economical treatments.AimThis study introduces a novel deep learning-based system for automated refractive error classification using photorefractive images acquired via a standard smartphone camera.MethodsA multi-branch convolutional neural network (CNN) was developed and trained on a dataset of 2,139 corneal images collected from an Indonesian public eye hospital. The model was designed to classify refractive errors into four categories: significant myopia, significant hypermetropia, insignificant refractive error, and not applicable to classified. Grad-CAM visualization was employed to provide insights into the model’s interpretability.ResultsThe 3-branch CNN architecture demonstrated superior performance, achieving an overall test accuracy of 91%, precision of 96%, and recall of 98%, with an area under the curve (AUC) score of 0.9896. Its multi-scale feature extraction pathways were pivotal in effectively addressing overlapping red reflex patterns and subtle variations between classes.ConclusionThis study establishes the feasibility of smartphone-based photorefractive assessment integrated with artificial intelligence for scalable and cost-effective vision screening. By training the CNN model with a real-world dataset representative of Southeast Asian populations, this system offers a reliable solution for early refractive error detection with significant implications for improving accessibility to eye care services in resource-limited settings.

This study investigated the inherent properties of pupillary red reflexes captured by smartphone cameras for refractive error detection. This cross-sectional study was conducted at the Public Eye Hospital in Pekanbaru, Indonesia. Red reflex images were captured using an iPhone 6s with the same protocol (in a dark room, in portrait orientation, and without cycloplegic agents). A total of 651 images were acquired from 350 patients. High myopia (88.2% images) predominantly appeared on the right side of the pupil, whereas low and high hyperopia (91.8% and 92.9% images, respectively) predominantly appeared on the left side of the pupil. The red reflex fills the entire pupil in low myopia and emmetropia (75.4% and 84.5% images, respectively). The left red reflex significantly (p &lt; 0.001) has a positive diopter power (+1.361 ± 1.925 D), while the total and right red reflexes have a negative one (-1.174 ± 1.325 and -5.977 ± 3.655 D, respectively). The total red reflex significantly (p &lt; 0.001) has a wider diameter ratio (0.617 ± 0.081) compared with the right and left red reflex (0.246 ± 0.066 and 0.299 ± 0.087). Spearman's correlation analysis showed a moderate correlation between the crescent size and dioptric power (a correlation coefficient of 0.615 and an R2 value of 0.314 (p &lt; 0.001) in the right and total red reflex; a correlation coefficient of -0.504 and an R2 value of 0.011 (p &lt; 0.001) in the left and total red reflex). Different red reflex patterns can quickly identify refractive errors.

Retinal examination plays an essential role in ocular assessment and serves as a key tool for diagnosing various eye conditions. The traditional direct ophthalmoscope (DO) remains widely used due to its affordability, accessibility, and rapid application. However, it presents several limitations, including a steep learning curve, narrow field of view, and strong dependence on user expertise. In contrast, the handheld fundus camera (HFC) is a newer innovation that provides high-resolution digital imaging and is more user-friendly. This study compared the usability, diagnostic confidence, and user preference between the DO and HFC among medical students and practitioners. This quasi-experimental study was conducted among 70 participants comprising medical students and practitioners. All participants had prior exposure to the DO and were recruited through convenience sampling. The study took place at the Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia (USIM), Negeri Sembilan and USIM's mobile eye screening sites. Participants received a 15-minute hands-on training with both the DO (Welch Allyn) and HFC (New Eyes) before performing non-mydriatic retinal examinations on separate patients. A structured questionnaire was used to assess device usability, comfort, diagnostic confidence, ability to identify retinal structures, and System Usability Scale (SUS) scores. Data were analysed using paired t-tests, Fisher's exact test, and chi-square tests. Among the participants, 70% were female and 62.9% were medical students. The mean(SD) time to identify retinal structures was significantly shorter with the HFC (2.8(1.84) minutes) compared to the DO (6.4(5.77) minutes; p<0.001). While red reflex detection was higher with the DO (97.1%), the HFC significantly outperformed in locating key structures: optic nerve (88.6% vs. 42.9%, p<0.001) and fovea (82.9% vs. 41.4%, p<0.001). No significant difference was found in identifying retinal vessels. Confidence in findings (92.9% vs. 32.9%) and image clarity (94.3% vs. 45.7%) favoured the HFC, with both differences being statistically significant (p<0.001). The HFC scored higher in usability with a mean SUS score of 64.0(9.37) versus 58.6(9.91) for the DO (p<0.001). Notably, 97.1% of participants preferred the HFC over the DO. Our findings show that the HFC offers clear advantages over the traditional DO, especially in ease of use, diagnostic confidence, and user experience. These strengths make it a more effective tool in clinical practice and medical education.

Background: Capsulorhexis in mature white cataracts has long been recognized as a tough task to conquer.[1] In this type of cataract, generally, the capsule tends to be thin. Further, due to the absence of red reflex, there is difficult visualization of the capsule edge during the surgery.[2] There is also a tendency for the anterior capsule tear to extend toward the periphery, leading to the dreaded Argentinian flag sign after the swollen lens is punctured.[3] The continuous curvilinear capsulorhexis (CCC) forms the backbone of modern-day phacoemulsification surgery, where 'in-the-bag' intraocular lens implantation (IOL) is targeted in all patients. Purpose: We present a novice technique of achieving CCC in white intumescent cataracts. Synopsis: All the patients with white/intumescent cataracts are operated under peribulbar/topical anaesthesia. After placement of a wire speculum, corneal incision is made using a 2.2 mm keratome. Two paracentesis of 1.2 mm each, 2 clock hours away from the main incision, are made. Staining of the anterior lens capsule is done with trypan blue under air. This is followed by injection of viscoelastic to maintain the anterior chamber. A base-in-nick with the help of 27 G needle is given in the anterior capsule, followed by decompression of the capsular bag by aspiration of the fluid. The nicked part of the lens capsule is then grabbed by capsulorhexis forceps, and a strip of about 3–4 mm is fashioned in a horizontal direction, leaving a rectangular opening in the capsule. Further irrigation of the milky fluid is carried out, followed by hydrodissection and rotation of the nucleus. After this, a rhexis scissor is used to cut one end of the strip rhexis that was made earlier, and using the capsulorhexis forceps, the CCC is then rounded off. After completion of CCC, phacoemulsification is carried out, and in-the-bag placement of IOL is done. Highlights: Base-in nick in the anterior capsule followed by making the horizontal strip. Video link: https://youtu.be/K9-al72XNZg

ObjectiveTo evaluate the integration of childhood eye screening with the Arclight direct ophthalmoscope into an already existing WHO/UNICEF Integrated Management of Newborn and Childhood Illness (IMNCI) programme in Tanzania.DesignProspective interventional study.SettingPrimary healthcare facilities in a semirural district, central Tanzania.ParticipantsTwo IMNCI (Integrated Management of Newborn and Childhood Illness) facilitators received training enhanced with four newly developed videos on using the Arclight. These facilitators then trained 378 primary healthcare workers (PHCWs) who were already familiar with the IMNCI ‘Eye Module’. The training covered how to perform red reflex testing with the Arclight device, interpret the results and appropriately refer children who failed the screening.Intervention‘Arclight’ direct ophthalmoscope and training of primary healthcare workers.Main outcome measuresNumber of children screened and diagnosed with eye conditions.ResultsOver 4 months, 2 trained IMNCI facilitators trained 378 PHCWs on how to use the Arclight direct ophthalmoscope to screen children’s eyes. Over a 6-month period, 36 000 children were screened in primary care settings with 136 seen at district level facilities and 105 referred to regional and tertiary facilities. The most common diagnoses of children referred were allergic conjunctivitis (37.4%), bacterial conjunctivitis (31.2%) and cataract (7.1%). There were six cases of ophthalmia neonatorum (3.9%) and two cases of retinoblastoma (1.3%). The incidence rate per 10 000 children of cataract was 3.05, ophthalmia neonatorum 1.67 and retinoblastoma 0.55.ConclusionPrimary healthcare workers in Tanzania can be trained to screen for eye disease in babies and children using the Arclight direct ophthalmoscope as part of an ongoing child health programme leading to the detection of treatable and serious eye diseases. Training all PHCWs would allow every child under 5 years old to be screened for eye disease, detecting serious eye conditions such as cataract and retinoblastoma earlier preventing avoidable childhood blindness and mortality.

INTRODUCTION Congenital rubella syndrome arises from maternal infection with rubella virus, particularly during the first trimester of pregnancy. While rubella is primarily associated with ocular, cardiac and auditory defects, its effects on the endocrine system, particularly in relation to diabetes mellitus, are seldom reported. This case report underscores the necessity of close monitoring in children with a history of rubella exposure, given the potential risk for the subsequent development of diabetes mellitus. CASE A 1-year 9-month-old male had right corneal clouding and absent red reflex. He was born at term with a birth weight of 2.6 kg. His mother had a multinodular goitre with no history of fever and rashes during pregnancy. He was diagnosed with right eye glaucoma and left uveitic cataract. He underwent evisceration of the right eye at 4 months and left lens surgery at 6 months. The patient presented recently with lethargy, excessive thirst, frequent urination and weight loss. He had global developmental delays and showed signs of dehydration during the examination. His growth was within percentile. Investigations revealed blood glucose of 46 mmol/L, positive serum ketone and metabolic acidosis (pH, 7.126; HCO₃, 10.1 mmol/L; base excess -22.7 mmol/L; PaCO₂, 20 mm Hg). He had no skin lesion and other systemic examinations were unremarkable. He was diagnosed with diabetic ketoacidosis and was treated with intravenous fluids and insulin. Following metabolic stabilization, he was transitioned to subcutaneous insulin. There was an increased incidence of insulin-dependent diabetes mellitus with congenital rubella syndrome. Pathogenesis is multifactorial, potentially involving the viral destruction of pancreatic β-islet cells and autoimmunity. Rubella virus peptides mimic glutamic acid decarboxylase (GAD) peptides in the pancreas. This activates T-cell-mediated autoimmune destruction and progressive loss of insulin-producing pancreatic beta-cells due to cross reaction. CONCLUSION This case highlights a significant endocrine complication associated with congenital rubella syndrome and emphasizes the importance of early diagnosis and management.

Ophthalmic screening is an important part of the medical care of children as some eye abnormalities can lead to irreversible vision loss if not treated in the first few months or years of life. The aim of this study is to evaluate the outcomes of the ophthalmic screening program in term infants aged ≤1 year who presented to a tertiary hospital in Türkiye. The records of 1,035 infants ≤1 year old who underwent ophthalmic screening between November 2019 and February 2022 were reviewed retrospectively. Demographic and medical details, parental complaints about the infants' eyes, family history of ocular, adnexal, and systemic pathologies, light reactions, red reflex test results, eye movements, blink response to light, fixation and following, noticeable strabismus, conjunctivitis, epiphora, anterior segment and fundus pathologies, and treatments applied were recorded. The referring physician (family physician, pediatrician) and reason for reference were also noted. Abnormal ophthalmological findings were detected in 136 infants (13.14%). The most common finding was congenital nasolacrimal duct obstruction (72.05%), followed by strabismus (8.82%), ptosis (4,41%), absence of following (3.67%), congenital cataract (2.94%), hemangioma of the adnexa (2.94%), nystagmus (2.94%), albino fundus (1.47%), preretinal hemorrhage (1.47%), and coloboma of the iris and choroid (1.47%). We detected abnormal red reflex in 4 infants who were not referred for red reflex abnormality by the referring physician, while another 4 infants referred for red reflex abnormality had no pathology on ocular examinations including the red reflex test. The importance of ophthalmic screening in infants is well appreciated but there are inadequacies in performing and interpreting the red reflex test among family physicians and pediatricians. Efforts should be directed at improving vision screening skills, especially red reflex testing.

Primary eye healthcare in India has potential for improvement; enhancing it can play a role in universal health coverage, integrated people-centered eye care, and reducing the burden on overloaded secondary/tertiary facilities. To assess the unmet need for primary eye care services in Pavagada taluk, Karnataka, India, by estimating ocular morbidity, blindness, and visual impairment among children <18 years, attending primary health centers for any health-related issue, and to examine their association with social factors. Health facility-based cross-sectional study in primary health centers in Pavagada. Trained ophthalmic technicians used E charts, red reflex testing, and external examination to screen. Patients with vision <6/9, abnormal red reflex, or external examination were referred to the base hospital. The data was analyzed using STATA17. Of 965 patients screened (mean [SD] age 6.87 [4.97] years), 125 were referred to the base hospital; seventy-two (57.5%) reported. The unmet need was 54% (39/72). Only 9/39 (23%) had major ocular morbidity necessitating secondary/tertiary care. Ocular morbidity was 8.60%, with uncorrected refractive errors predominant (6.84%). Visual impairment rates were lower among children of mothers with 8-12 years of education (13.64%), housewives (7%), upper-middle-class (0%), compared to those with no formal education (25%), non-agricultural laborers (29%), middle (22%), lower-middle class (17%), respectively. Pavagada taluk has a significant unmet need for primary eye care services. Addressing this requires improving infrastructure, manpower, and training at existing health centers to provide primary eye care services and alleviate the burden on secondary/tertiary care facilities.

Refractive errors, which include myopia, hyperopia, presbyopia, and astigmatism, are common vision problems that result in blurred vision when light rays are not focused correctly on the retinal plane. Diagnosis and classification of refractive errors are essential for providing appropriate corrective measures such as glasses or contact lenses. The key objective of this research is to establish an efficient and fast approach to identifying a refractive defect and categorizing them. Leveraging the capabilities of modern technology, we utilize a smartphone’s camera to capture pictures of the red reflex in the eye. During capturing, the photos are processed using recent image processing techniques to identify any irregularities or asymmetries that may indicate refractive errors. By comparing our method to other current models, we hope to illustrate the advantage of our Hereditary model, which combines a random forest and a convolutional neural network, in accurately diagnosing and classifying refractive errors. Additionally, the proposed approach can serve as a foundation in order to do additional research and development in machine learning and image processing methods improvements for the classification of ocular disorders.

Abstract Introduction: Cataract is defined as the opacity of the lens, which leads to reduced vision and can eventually result in blindness. In pediatric patients, it has a poor visual prognosis if not diagnosed early. Objective: The aim of our study is to clinically and demographically characterize pediatric cataract patients in a referral hospital of a developing country, as well as to identify the challenges faced in providing care for these patients. Subjects and Methods: A cross-sectional descriptive observational study was conducted, including all pediatric patients diagnosed with cataract over a 10-year period. Results: A total of 95 patients were studied, comprising 113 eyes. The most common clinical presentation was leukocoria. The median age at diagnosis was 24 months (interquartile range [IQR]: 80 months), and the median time from diagnosis to surgery was 1 month (IQR: 2 months). The median follow-up time after surgery was 3 months (IQR: 1–12 months). The most common cause of loss to follow-up was financial or personal difficulties faced by the parents, accounting for 20% of cases. Conclusions: Red reflex examination is essential during pediatric visual screening to ensure early diagnosis of cataract. The age at diagnosis varies depending on the etiology and may be influenced by socioeconomic status and local factors such as access to healthcare services.

The nonmydriatic, noncontact, and rapid acquisition features of ultra-widefield fundus (UWF) imaging create an invaluable tool for pediatric retinal screening in primary care. This review assesses the landscape of pediatric eye screening, identifies gaps in diagnosing a range of pediatric retinal conditions, and discusses potential uses of UWF imaging for retinal screening. The standards for pediatric eye screening in primary care include red reflex testing, direct ophthalmoscopy, external ocular exam, instrument-based screening, and visual acuity testing. These tests fail to diagnose several treatable retinal diseases. In this gap, UWF retinal imaging provides a panoramic view of the retinal landscape, allowing for a more comprehensive examination. For several pediatric retinal conditions (eg, retinal detachment, retinopathy of prematurity, Coats' disease, familial exudative vitreoretinopathy, Stargardt disease, ocular toxocariasis), UWF retinal imaging provides the high spatial resolution necessary for reliable diagnosis, expediting time to treatment while maintaining low false positive rates. [Ophthalmic Surg Lasers Imaging Retina 2025;56:232-239.].

The OrbiTau surgical simulator is a synthetic eye model developed to enhance cataract surgical training. Herein, we aimed to describe the perspectives of Harvard's Ophthalmology faculty and residents regarding the effectiveness of OrbiTau. A cross-sectional study was conducted in which 11 surgeons from the Massachusetts Eye and Ear Infirmary, with prior experience utilizing simulated phacoemulsification platforms, conducted cataract surgery with the OrbiTau. Subsequently, they completed a satisfaction questionnaire using the Likert scale. Regarding the various OrbiTau components, 90.90% of the participants reported that the OrbiTau lens capsule was comparable to that of the human lens during capsulotomy. Furthermore, 72.72% of the participants found that the OrbiTau lens consistency was analogous to that of the human lens nucleus. Approximately 63.63% of the participants reported that the model's posterior lens capsule resembled the native posterior capsule, and 72.72% of the participants noted that the model's red reflex was similar to that of the dilated human pupil. Most participants believed that the OrbiTau was easier to use and more realistic than other commercially available simulators. Our single-institution survey of the Orbitau demonstrated that this model realistically replicates ocular structures and may be a viable option for cataract surgery training.

BACKGROUND:Vision impairment in children, the leading causes of which are untreated refractive errors and amblyopia, is a significant global health issue. This study focuses on the current practices of vision impairment screening of children and adolescents by family medicine physicians in the Eastern Region of Saudi Arabia. The aim of this study was to evaluate the methods used by family medicine physicians to screen vision and identify areas requiring improvement to enhance early detection and treatment.MATERIALS AND METHODS:A cross-sectional descriptive study was conducted among 172 family medicine physicians in the Eastern Region of Saudi Arabia from 2023 to 2024. Data were collected using via social media and visits using a self-administered questionnaire comprising questions on sociodemographics, current screening methods, and physicians’ confidence in performing various visual assessment tests. Descriptive statistics were used to summarize the data, and Chi-square test was used to determine associations between physician demographics and screening practices.RESULTS:The study found that visual inspection of the external eye was the most commonly used test for both over and under 3 years of age while visual acuity tests with letters or numbers and red reflex were used by 41.9% and 40.1% for over and under 3 years old, respectively. However, significant gaps were identified in training and resource availability; many physicians lacked access to advanced screening tools as well as sufficient training in pediatric ophthalmology.CONCLUSION:The study highlights the need for enhanced training programs and better resource allocation to improve vision screening practices by family medicine physicians. Implementing comprehensive training in pediatric vision screening and ensuring access to appropriate screening tools are critical steps toward the improvement of early detection and treatment of vision impairment in children and adolescents.

Association of neighborhood Child Opportunity Index with visual outcomes in children with unilateral pediatric cataract.

Objective: The aim of this study was to highlight the potential viability to the Digital Eye Fundus Triage Neonates examination be performed by a nurse in order to detect abnormalities until 3 months after birth. Method: Thirty-four neonates were examined at this randomized quantitative study. A Pictor Plus portable ophthalmic camera, model VP2RET manufactured by Volk (Volk Optical, Inc., Mentor, OH) was utilized. To reduce discomfort during examination, a 25% oral glucose solution was administered. Results: Nineteen neonates presented with normal results and 15 neonates presented with unilateral or bilateral alterations. Conclusion: The Digital Eye Fundus Triage Neonates examination could be performed by a nurse in order to detect abnormalities until 3 months after birth. Since visual system development occurs concomitantly with child´s neuromotor development, Eye Fundus Triage may have a profound impact on improving not only ocular but on overall health of newborns and children.

The red reflex test, performed using a direct ophthalmoscope, serves as a critical diagnostic tool in identifying various ocular conditions. These conditions encompass retinal anomalies (such as retinoblastoma, Coats disease, retinopathy of prematurity, familial exudative vitreoretinopathy, myelinated nerve fibers, ocular toxocariasis, ocular toxoplasmosis, retinochoroidal coloboma, astrocytic, and combined hamartoma), vitreous abnormalities (including persistent fetal vasculature), lens issues (like cataract), anterior chamber and corneal conditions (comprising dysgenesis of the anterior segment, congenital glaucoma, birth trauma), and tear film disturbances. During this examination, the presence of leukocoria, characterized by a white pupillary reflex, can suggest the presence of underlying conditions. Any suspicion of an abnormal red reflex test warrants immediate evaluation by a qualified ophthalmologist. This article primarily underscores the paramount importance of the red reflex examination, not only to identify potential sight-threateningbut also life-threatening conditions. It delves into the most common causes of leukocoria in childhood and offers insights into a comprehensive diagnostic approach. The target audience for this article includes pediatricians, primary care clinicians, and ophthalmologists, all of whom play a pivotal role in the early detection and intervention of these critical eye disorders.

Abstract A first-born female infant was delivered at term with widespread redness and scale. There was no family history of genodermatoses or inflammatory dermatoses. There was no parental consanguinity and no history of miscarriages. On examination there was erythroderma, generalized thick adherent scale in a feathery pattern following lines of Blaschko, and shiny red whorls on the dorsolateral feet. There was no skin peeling or skin fragility. Several fingernails were hypoplastic. The nasal bridge was flat and the neck was short. Red reflex was present bilaterally but both eyes were noted to be small. The head and trunk were large relative to the limbs and the proximal limb segments were proportionately short. Given the constellation of signs, a specific syndromic ichthyosis was suspected. Skin biopsies from linear scaly streaks showed orthohyperkeratosis and numerous dilated follicular ostia with keratin plugs. Foci of calcification were seen in the corneocytes of the stratum corneum and hair follicles, highlighted with a von Kossa stain. Skeletal survey showed symmetric punctate calcification and stippling of the proximal femoral epiphysis and ankle bilaterally, and of the right humeral epiphysis and right carpus. These findings were in keeping with chondrodysplasia punctata, although no gross rhizomelia was appreciated radiologically. Ophthalmology review did not identify congenital cataracts. Bloods tests showed normal haematological, renal and bone parameters, and a hyperbilirubinaemia meeting the phototherapy threshold. The erythema was noted to improve markedly following 12 h of phototherapy. Urea 10% cream was helpful in reducing the ichthyosis. Genetic testing revealed a pathogenic variant in the ­emopamil-binding protein (EBP) gene (c.184C&amp;gt;T; p.Arg62Trp), confirming the diagnosis of Conradi–Hünermann–Happle syndrome. Conradi–Hünermann–Happle syndrome is a rare type of chondrodysplasia punctata associated with X-linked dominant mutations in the EBP gene, which impair cholesterol biosynthesis. Affected unborn males are not expected to survive to birth. Conradi–Hünermann–Happle syndrome is characterized by the triad of congenital ichthyosiform erythroderma, skeletal dysplasia and congenital cataracts. The cutaneous phenotype is variable, due to the effects of X-inactivation in female infants. Dystrophic calcifications within keratotic infundibular follicular plugs, especially in the stratum corneum, are a unique but under-recognized histopathological feature of newborns with Conradi–Hünermann–Happle syndrome. It is important to perform the skin biopsy early, as the dystrophic calcifications typically resolve spontaneously after the first few weeks of life. This case highlights a typical dramatic presentation of Conradi–Hünermann–Happle syndrome, and emphasizes the importance of early skin biopsy for diagnostic clues.