Congenital optic nerve anomalies represent a group of structural malformations that impair vision, increase the risk of ophthalmic complications, and are frequently associated with systemic conditions. We provide a review of major congenital optic disc anomalies, including optic nerve hypoplasia, morning glory disc anomaly, optic disc coloboma, peripapillary staphyloma, persistent fetal vasculature, myelinated nerve fibers, tilted disc syndrome, optic disc pit, papillorenal syndrome, optic disc drusen, and congenital optic disc pigmentation. We will review the definition, epidemiology, pathophysiology, clinical presentation, diagnostic workup, and associated systemic findings. An emphasis is placed on screening and multidisciplinary management aimed at correcting and preserving vision and preventing complications, such as retinal detachment, maculopathy, strabismus, amblyopia, and endocrine disorders. Diagnosis tools, including optical coherence tomography (OCT), B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT), are highlighted for their role in screening for these conditions. Many congenital optic nerve anomalies lack a definitive cure, and some conditions are extremely rare and do not have well-defined treatment protocols. However, routine ophthalmic examination, correction of refractive errors, visual surveillance for systemic conditions, and surgical intervention can optimize patient outcomes. Furthermore, multidisciplinary collaboration between ophthalmologists and other physicians, including pediatricians, endocrinologists, neurologists, and geneticists is often needed to facilitate care.

RWC Update: Gene Therapy in Common Retinal Disorders: Hope, Hype, or Near-term Reality?; 1.4-mm Trophy; Persistent Fetal Vasculature with Tractional Retinal Detachment.

To characterize the distribution of persistent fetal vasculature (PFV) subtypes and to evaluate corneal astigmatism (CA) in children with unilateral PFV. The medical records of patients diagnosed with PFV between January 2014 and August 2021 were retrospectively reviewed. Corneal keratometry parameters were measured using IOLMaster or a handheld keratometer. Differences in CA between the affected and fellow eyes were analyzed in 52 unilateral PFV patients with available examination data. Totally 133 patients diagnosed with PFV were retrospectively reviewed. The male-to-female ratio was 73/60. Median age at surgery was 38.03mo (interquartile range 58.27mo). Among the PFV patients, 32 (24.06%) had anterior PFV, 2 (1.50%) had posterior PFV, and 99 (74.44%) had combined anterior-posterior PFV. Mild combined PFV was the most common subtype. In unilateral PFV cases, the mean CA in the affected eye was 2.29±1.11 D, and 59.62% (31 eyes) had CA≥2.0 D. The mean CA in the affected eyes was significantly higher than in the fellow eyes (1.37±0.77 D; P<0.001). Among PFV-affected eyes with CA≥2.0 D, the steepest corneal meridian was vertically oriented in 30 cases (96.77%), while only 1 case (3.23%) had the steepest meridian oriented horizontally. In children with unilateral PFV, CA is significantly higher in the affected eyes than in the fellow eyes, and the steepest corneal meridian was predominantly oriented vertically.

Intraoperative Detection of Quiescent Persistent Fetal Vasculature in an Adult.

Retina-like Vascular Architecture in Persistent Fetal Vasculature.

Purpose : to present a review of publications devoted to defects of the posterior lens capsule in children with congenital cataracts, as well as approaches to surgical tactics in their presence. Materials and methods . A search was conducted for publications on posterior lens capsule defects in children with congenital cataracts from 1992 to 2024 using the electronic databases PubMed (https://www.ncbi.nlm.nih.gov/pubmed/), Google Scholar (https://scholar.google.ru/), eLIBRARY.ru (https://www.elibrary.ru/) and domestic journals (Ophthalmosurgery, Bulletin of Ophthalmology, Ophthalmology, Russian Children’s Ophthalmology, Modern Technologies in Ophthalmology). Results . Posterior capsule defects (PCDs ДЗК) of the lens are one of the most common anomalies of the posterior capsule, along with persistent fetal vasculature (PFV ПФСС) and posterior lenticonus (PL ЗЛК). There were a sufficient number of publications on persistent fetal vasculature (275 in the PubMed database as of 10/09/2024) and posterior lenticonus (86 in the PubMed database as of 10/09/2024) in the available literature. A limited number of articles on posterior capsule defects (11 in the PubMed database as of 10/09/2024), and therefore a review of publications devoted to posterior capsule defects in congenital cataract is relevant to expand knowledge about the role of posterior capsule defects in the diagnosis and surgical treatment of this pathology. Conclusion . Thanks to modern technologies, new opportunities are opening up for specialists to visualize, analyze and evaluate the posterior capsule of the lens, the condition of which can affect the effectiveness and safety of pediatric cataract surgery, as well as to plan surgical tactics and intraoperative prevention of complications, which guarantees the quality of surgical intervention in this category of patients.

BackgroundFukuyama congenital muscular dystrophy (FCMD) is a severe autosomal recessive α-dystroglycanopathy caused by biallelic variants in the FKTN gene, characterized by muscular, neurological, and ocular involvement. This study aimed to evaluate the ophthalmologic manifestations associated with specific FKTN variant subtypes in Korean patients with FCMD.MethodsWe conducted a retrospective review of nine patients with genetically confirmed FCMD who were followed at a single tertiary referral center between 2005 and 2024. Comprehensive ophthalmologic evaluations were correlated with molecular genotyping, including detection of founder retrotransposon (RT) insertions and splice-disrupting variants in the FKTN gene.ResultsSeven of nine patients (77.8%) harbored compound heterozygous variants comprising the RT insertion and deep intronic splice-site variants, while two patients carried non-founder variants. The mean age at last ophthalmic evaluation was 7.59 ± 4.74 years. High myopia (44.4%), strabismus (22.2%), and nystagmus (11.1%) were frequently observed. Fundus examination revealed optic disc abnormalities in 77.8% of patients, including small discs (55.6%), pale discs (33.3%), and peripapillary fibrotic membranes (33.3%). Additional retinal features included dark without pressure (33.3%), tessellated fundus (33.3%), and peripheral pigmentary degeneration (44.4%). Notably, rare but vision-threatening anomalies, such as persistent fetal vasculature and tractional retinal detachment, were observed only in patients with compound heterozygous variants and were absent in those carrying non-founder variants.ConclusionThis study demonstrates that Korean patients with FCMD carrying compound heterozygous variants comprising the RT insertion and deep intronic splice-site variants exhibit a recognizable ophthalmic phenotype characterized by optic disc and retinal abnormalities, highlighting the need for targeted and ophthalmologic surveillance in this patient population.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12886-025-04432-x.

Objectives: Children with congenital anomalies of the posterior segment of the eye are in the process of visual development, and thus, their refractive errors should be detected by cycloplegic refraction testing to prescribe full-correction glasses, if required, and to help their visual acuity develop with growth. This study aimed to review refractive correction in children with congenital ocular fundus anomalies.Methods: A retrospective review was conducted on 18 consecutive children (11 female and seven male children) who were diagnosed with ocular fundus anomalies and followed for 10 years or more by a single ophthalmologist at a referral-based hospital. The age at the initial visit ranged from 10 days after birth to 11 years, with a median of one year and four months, and the age at the last visit ranged from 10 to 32 years, with a median of 15 years. The follow-up periods ranged from 10 to 21 years at a median of 15 years.Results: The diagnoses were familial exudative vitreoretinopathy (FEVR) in eight children, persistent fetal vasculature (PFV) in five, morning glory disc anomaly in two, optic nerve and choroidal coloboma (CHARGE syndrome) in two, and Coats disease in one. Full-correction glasses were prescribed in eight children, while the remaining 10 children did not wear glasses. Among nine children with the uncorrected visual acuity of 1.0 or better in one eye and the visual acuity in the other eye ranging from light perception to 0.01, eight children did not wear glasses, and one child wore glasses with hyperopic correction. The diagnoses in these nine children were PFV in five children, morning glory disc anomaly in two, FEVR in one, and Coats disease in one. In seven children who wore full-correction glasses, the best corrected visual acuity in the better eye ranged from 0.2 to 0.9 at a median of 0.5. In contrast, the visual acuity in the other eye ranged from light perception to 0.1 at a median of 0.03. The diagnoses of these seven children were FEVR in five children and CHARGE syndrome in two. The five children with FEVR showed myopic astigmatism in both eyes, while the two children with CHARGE syndrome showed hyperopic astigmatism in both eyes.Conclusion: Children with unilateral eye anomalies such as PFV and morning glory disc anomaly did not wear glasses since their healthy eyes had good uncorrected visual acuity. In contrast, children with involvement of both eyes in FEVR and CHARGE syndrome wore full-correction glasses. Rough information regarding full-correction glasses in each category would help clinicians cope with rare congenital eye diseases. However, this conclusion is generally applicable to the standard practice of pediatric ophthalmology.

A BSTRACT Persistent hyperplastic primary vitreous (PHPV), a rare congenital ocular anomaly resulting from halted regression of the fetal hyaloid vascular system. It typically presents with leukocoria and poor vision in infancy. A 11-year-old girl presenting with profound visual loss in the left eye necessitating ophthalmic evaluation. Clinical examination revealed a mature cataract in the left eye. Imaging confirmed the diagnosis of PHPV. Treatment included surgical intervention in which small incision cataract surgery with posterior chamber intraocular lens implantation was performed in the left eye primarily for cosmetic improvement. Despite meticulous intervention, visual recovery remained minimal. The case underscores the nuanced approach required in managing PHPV cases, balancing cosmetic concerns with realistic visual outcomes, thereby enriching the discourse on pediatric ophthalmic interventions. This case report highlights the challenges in achieving cosmesis in patients with congenital cataract and PHPV, emphasizing the importance of early intervention and comprehensive management strategies for optimal outcomes.

We describe two cases of pediatric cataract with elongated prominent ciliary processes. The first case was an 11-year-old male with constant exotropia and dense cortical cataract in the left eye. His best corrected visual acuity (BCVA) was 6/6 in the right eye and 1/60 in the left eye. Left eye cataract extraction with intraocular lens (IOL) implantation was done. Postoperatively, BCVA improved to 4/60, and the patient was prescribed corrective glasses and occlusion therapy. The second case was a 7-year-old male with exotropia. BCVA was 6/6 in the right eye and 6/60 in the left eye, with lens coloboma, brittle star configuration of posterior capsule, and cortical cataract but with a clear visual axis. Management included corrective glasses and observation of cataract, with regular follow-up. A notable feature was the presence of unilateral prominent elongated ciliary processes in both cases which is most frequently associated with persistent anterior fetal vasculature. Though the presentations are varied, a tailored approach is recommended to tackle the associated cataract, strabismus, and amblyopia.

To report aggressive surgical management for bilateral acute neonatal endogenous Candida endophthalmitis in the different presenting spectrums of the disease. Ultra-widefield fundus photo documentation for both eyes at presentation and after the surgical procedure. Surgical video with stepwise precautions while performing the procedure of pars plana lensectomy for lens abscess, vitrectomy for vitreous exudates, and cryotherapy for fungal granuloma in neonatal endogenous endophthalmitis. A 2-month-old baby with a history of premature birth was referred to our hospital by the treating pediatrician with a clinical suspicion of endogenous endophthalmitis in the right eye. The baby was diagnosed with acute synovitis of the right knee and was on treatment. On examination, the right eye showed a focal lens abscess with pars plana granuloma, with a temporal retinal fold and persistent fetal vasculature stalk arising from the disc. The left eye showed floating posterior vitreous exudates. The right eye underwent pars plana lensectomy and vitrectomy. A cryotherapy was performed for the granuloma, and an intravitreal antifungal was injected. The left eye underwent lens-sparing vitrectomy with intravitreal antifungal. Both eyes' vitreous biopsy samples confirmed Candida by fungal polymerase chain reaction (PCR). The pediatrician continued systemic antifungal. Both eyes showed resolved endogenous endophthalmitis with favorable outcomes at 1-month post-surgery. Early aggressive surgical intervention with lensectomy for lens abscess, complete vitrectomy with base shaving, Cryotherapy for fungal granuloma, and intravitreal and systemic antifungal agents for endogenous endophthalmitis plays a pivotal role in targeting localized fungal lesions to control their progression.

Case Report: Unilateral Developmental Cataract with Persistent Hyperplastic Primary Vitreous

Abstract Background To evaluate phenotypes in Korean patients with Fukuyama congenital muscular dystrophy (FCMD), with a particular focus on ocular manifestations associated with specific Fukutin (FKTN) mutation subtypes. Methods We conducted a retrospective review of nine patients with genetically confirmed FCMD who were followed at a single tertiary referral center between 2005 and 2024. Comprehensive ophthalmologic evaluations were correlated with molecular genotyping, including detection of founder retrotransposon (RT) insertions and splice-disrupting variants in the FKTN gene. Results Seven of nine patients (77.8%) harbored compound heterozygous mutations comprising the RT insertion and deep intronic splice-site variants, while two patients carried non-founder mutations. The mean age at last ophthalmic evaluation was 7.59 ± 4.74 years. High myopia (44.4%), strabismus (22.2%), and nystagmus (11.1%) were frequently observed. Fundus examination revealed optic disc abnormalities in 77.8% of patients, including small discs (55.6%), pale discs (33.3%), and peripapillary fibrovascular membranes (33.3%). Additional retinal features included pigment without pressure (33.3%), tigroid fundus (33.3%), and peripheral retinal pigmentation (44.4%). Notably, rare but vision-threatening anomalies such as persistent fetal vasculature, and tractional retinal detachment were exclusively detected in patients with compound heterozygous mutations. Conclusion This study reveals a distinct ophthalmic phenotype in Korean patients with FCMD, characterized by optic nerve and retinal abnormalities. These findings suggest that patients with these genotypes may benefit from targeted and proactive ophthalmologic surveillance. Further studies in larger cohorts are warranted to validate these genotype-specific correlations.

a case of anti-vascular endothelial growth factor (VEGF) injection to prevent intraocular bleeding during surgery.Part of the development of the human eye is the formation and regression of the vascular network supply.Persistent fetal vasculature (PFV) is a congenital disorder associated with embryonic hyaloid vasculature failure to partially or completely regress.The vascular remnant connects between the optic disc posteriorly to the anterior ocular structures.Observations: Affected children may develop cataracts and several other ocular findings.Lens extraction with or without intraocular lens implantation is essential to clear the obstructed visual axis and to prevent amblyopia.Lensectomy lows the risk of secondary glaucoma.The removal of the hyaloid stalk releases retinal and ciliary body traction, reducing the chances of eye growth restriction, hypotony, or phthisis bulbi.Conclusion: Classically, endodiathermy can be used to control or prevent bleeding from the anterior and posterior PFV, however intraocular bleeding is still a common complication.

Persistent fetal vasculature (PFV) refers to a spectrum of developmental ocular anomalies due to incomplete regression of embryonic vasculature. PFV may present with a wide range of manifestations and visual consequences. We report a rare manifestation of PFV wherein an exudative choroidal neovascular membrane formed in association with the posterior origin of the fibrovascular stalk. While most PFV stalks arise from the optic disc, the stalk in this case originated away from the disc in the inferonasal peripapillary area and had not undergone surgical transection. The patient was treated with intravitreal anti-vascular endothelial growth factor injections with sustained improvement in vision and exudation.

Congenital pupillary membranes, as common developmental anomalies of the anterior segment, primarily include persistent pupillary membrane (PPM) and anterior-anterior type of persistent fetal vasculature (AAPFV). Although both manifest as residual membranous tissue in the pupillary area, they differ significantly in embryonic origin and clinical characteristics. PPM arises from incomplete regression of the embryonic pupillary membrane, presenting as non-progressive filamentous or web-like tissue with iris coloration. In contrast, AAPFV is associated with abnormal regression of the primitive hyaloid vascular system, characterized by progressive white fibrovascular membranes that may lead to secondary glaucoma and deprivation amblyopia, thus necessitating early surgical intervention. This article systematically elucidates the core distinctions between these two pupillary membranes in terms of clinical presentation, disease progression, and management strategies, emphasizing the need for ophthalmologists to improve diagnostic recognition to prevent misdiagnosis and inappropriate management.

Background: Incontinentia pigmenti (IP), is a rare X-linked dominant genodermatosis with skin lesions as a typical feature, accompanied by multisystem developmental disorders that can involve teeth, eyes, central nervous system, and other organs. Associated ocular features such as persistent hyperplastic primary vitreous (PHPV) are rarely seen. Clinical Description: A 6-year-old, developmentally normal girl, presented with acute gastroenteritis, while having some chronic problems such as poor scholastic performance and reduced vision. Her mother also complained of hyperpigmented lesions on skin since 2 years of age and delayed eruption of teeth. On examination, she had typical hyperpigmented macular whorls along lines of Blaschko, dental abnormalities along with right eye exotropia, nonreacting pupil with white pupillary reflex, and vision being restricted to perception of light on that side. Management and Outcome: While routine blood investigations were unremarkable, an ultrasound B scan revealed PHPV and vitreous hemorrhage. Magnetic resonance imaging showed a small right globe with persistent hyperplastic primary vitreous and optic nerve atrophy. The constellation of findings fulfilled the criteria for IP. The child was managed conservatively along with ophthalmic and dermatologic evaluation. She was referred to a vitreoretinal surgeon. Conclusion: Ophthalmic associations like PHPV are rarely seen in children with IP, but lack of awareness regarding the same and delay in diagnosis may lead to serious morbidity. As IP is a multi-system disorder, a thorough clinical examination of all systems should be done to identify associated findings.

Pediatric cataract surgery is very different from adult cataract surgery. Aprofound understanding of surgical technique, age at time of surgery, combined ocular and systemic diseases to be associated with long-term functional or morphological outcomes is important for planning and performing treatment of cataracts in children. Increased intra- and postoperative risk and individual amblyogenic risk mainly affect surgical versus nonsurgical treatment decisions. The most common long-term complication in children following congenital cataract surgery is aphakic glaucoma. It is well established that the single greatest risk factor for aphakic glaucoma is surgery during early infancy. Other risk factors include microphthalmos, fetal nuclear cataract, and persistent fetal vasculature. The following article provides an overview on important aspects of pediatric cataract treatment.

Cataracts in the pediatric age group present with challenges distinct from the adult age group. Objectives: To determine the long-term postoperative outcomes of pediatric cataract extraction with IOL implantation at a tertiary eye care center in Karachi. Methods: This retrospective cross-sectional study was carried out at Al-Ibrahim Eye Hospital for six months after ethical approval. Medical records of pediatric children below 10 years that had undergone cataract surgery along with implantation of IOL at the hospital in-between January 2020 to December 2024 were selected. Children having abnormalities, such as condition limiting eye’s visual potential like retinal disorders, retinal detachment, glaucoma, persistent fetal vasculature, abnormalities of the cornea, diseases of optic nerve, uveitis (either active or signs suggesting history of uveitis), or a history of cryotherapy for retinopathy due to prematurity, or treatment with laser, children with complications of surgery, placement of IOL in sulcus or children that failed to follow-up were all excluded. SPSS version 23.0 was used for data analysis. Results: A total of 140 eyes from pediatric patients were studied, with 56.43% male and 43.57% female. Bilateral cataracts were more common (72.86%). The mean age at surgery was 74.77 ± 29.94 months, with a follow-up of 5.22 ± 3.82 months. Postoperative refractive biometry significantly improved from +24.50 ± 4.50 D to +18.50 ± 2.50 D (p&lt;0.001), showing a mean reduction of -6.00 ± 2.00 D. Conclusions: In long-term post-operative outcomes of pediatric cataract extraction with IOL implantation, surgery was generally well-tolerated with positive outcomes and minimal side effects.

To assess the biometric parameters of the anterior segment in pediatric cataractous eyes using 35 MHz ultrasound biomicroscopy (UBM) and investigate their relationship with age and morphology of cataracts. This is a retrospective observational study conducted at a high-volume tertiary care center. We enrolled 2344 eyes of 1392 children under 15 years old with cataracts, categorizing them into four age groups. The UBM was used to measure various parameters, including bag diameter (BD), ciliary sulcus diameter (STS), anterior chamber depth (ACD), and others. White-to-white (WTW) diameter, axial length (AL), and keratometry (Km) were also measured. We found that AL, WTW, angle to angle (ATA), STS, BD, and ACD increased with age, while Km decreased, indicating corneal flattening. Lens thickness (LT) was influenced by cataract morphology, and it was noted that LT increased with age in non-cataractous eyes. Cataractous eyes had smaller measurements for several parameters compared to fellow eyes. Notably, STS and BD showed a positive linear correlation, as did WTW and STS. Using statistical analysis, we derived formulas to estimate BD from STS and WTW measurements. We observed various cataract morphologies, including zonular, nuclear, partially absorbed, intumescent, posterior plaques, and persistent fetal vasculature. The study highlights the utility of 35 MHz UBM in assessing anterior segment biometric parameters in pediatric cataractous eyes. This information is crucial for selecting and implanting posterior chamber intraocular lenses (PCIOLs). By using UBM measurements or the derived formulas, the study suggests that the risk of complications related to PCIOL sizing can be reduced, offering a more precise alternative to using WTW alone for this purpose.