OBJECTIVE: To assess the incidence of secondary glaucoma in children following congenital cataract surgery.
METHODS: Systematic review and meta-analysis.
METHODS: The PubMed, Embase, Cochrane Library, and Web of Science databases were searched from inception through March 16, 2023. Studies reporting congenital cataract surgery and glaucoma were enrolled. The quality of the selected studies was assessed using the Newcastle Ottawa Scale, and data analysis was executed utilizing R software.
RESULTS: A total of 36 published studies with 3151 patients (4717 eyes) were included in the analysis. The incidence rate of glaucoma following congenital cataract surgery was 6.6% (95% CI: 3.9%, 9.9%). The incidence of secondary glaucoma in the primary intraocular lens (IOL) implantation group (3.3% [95% CI: 1.5%, 5.8%]) and the secondary IOL implantation group (3.5% [95% CI: 0%, 11.4%]) were lower compared to the aphakia group (13.5% [95% CI: 7.7%, 20.6%]). The incidence rate among children with congenital cataracts from Asia (6.9% [95% CI: 4.1%, 10.4%]) was higher than that in European children (0.9% [95% CI: 0%, 3.0%]; P < .01). A correlation was identified between the age at cataract surgery and the incidence of secondary glaucoma (P = .02).
CONCLUSIONS: This meta-analysis found that the incidence of secondary glaucoma following congenital cataract surgery is approximately 6.6%. Children with IOL implantation exhibit a lower incidence of secondary glaucoma, with a lower incidence noted in European children compared to their Asian counterparts. The age at cataract surgery is an important risk factor to consider.

Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The LSS gene encodes lanosterol synthase (LSS), which acts on the cholesterol biosynthesis pathway by converting (S)-2,3-oxidosqualene to lanosterol. The biallelic pathogenic variants in the LSS gene were found in congenital cataract, Alopecia-intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. In this study, we reported the first congenital nuclear cataract combined with hypotrichosis in a 12-year-old boy with biallelic LSS variants (c.1025T>G; p.I342S and c.1531_1532insT; p.L511Ffs*17) by exome sequencing. Reviewing all reported patients with LSS variants indicated that p.W629 might be a hotspot for hypospadias and p.I342S was associated with congenital cataract. Patients with one or two truncation variants tend to have multisystem symptoms compared with those with two missense variants. These findings deepen the understanding of LSS variants and contribute to the genetic counseling of affected families.

We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children\'s Hospital of Guangzhou University of Chinese Medicine due to \"global development delay complicated with postnatal growth retardation for more than 1 year.\" The infant was diagnosed with YHFS due to the onset of extremely severe mental retardation, microcephaly, abnormal hearing, severe protein-energy malnutrition, congenital cataract, cleft palate (I°), congenital atrial septal defect, brain atrophy, hydrocephalus, and brain hypoplasia. The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant, c.2245A > T (p.K749X) from her mother and an uncertain variant, c.2299C > T (p.R767C) from her father, validated by Sanger sequencing. After bilateral cataract surgery, the infant obtained better visual acuity and showed more responses and interactions with her parents. Diagnosis and treatment of this case prompt that these TELO2 variants have not been reported, deepening the understanding of the molecular and genetic mechanism of YHFS in clinical practice.

The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD).
To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions.
A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites.
Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions.
Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.

As an indispensable part of congenital cataract surgery, intraocular lens (IOL) implantation in infantile patients has long-term positive impacts on visual rehabilitation, as well as postoperative complications inevitably. Timing of IOL implantation in infantile congenital cataract patients is not simply a point-in-time but a personalized decision that comprehensively takes age at surgery, risks of postoperative complications, and economic condition of family in consideration, and combines with choosing suitable IOL type and power. For infants with well-developed eyeballs and good systemic conditions, IOL implantation at six months of age or older is safe and effective. Otherwise, secondary IOL implantation may be a safer choice.

Purpose: To evaluate the causes of blindness and visual impairment in children aged 0-7 years attending a Low Vision Centre in Mexico City, Mexico.Methods: Clinical records for patients aged 0-7 years attending the Centre from 2001 to 2015 were retrospectively reviewed. Causes of blindness and visual impairment, affected anatomy, and suspected time period of insult were recorded.Results: 1487 patients were included, 45.9% girls and 54.1% boys. Mean age of presentation was 39 months (SD 27.9 months). 36.0% had associated co-morbidities in addition to their ophthalmic pathology. 39.7% presented with developmental or psychomotor delay. Leading diagnoses were Retinopathy of Prematurity (ROP) (19.6%), optic nerve atrophy (11.5%), and congenital cataract (9.5%). The most affected anatomical regions were retina (33.8%), optic nerve (16.6%), and lens (10.5%). Half of all cases (50.9%) had insults in the prenatal period. Children with developmental delay were more likely to present before the age of one. There is a significant difference in risk of delayed presentation according to diagnosis. Only 13.5% of children with optic nerve atrophy presented to the Centre before the age of one, compared to 28.4% of children with ROP and 23.4% of children with cataract.Conclusion: The most common diagnoses for blindness and visual impairment among children were ROP, optic nerve atrophy, and congenital cataract. Late presentation to the Centre was common. There were significant differences in risk of delayed presentation depending on diagnosis. Co-existing systemic conditions and developmental and psychomotor delay were also common among patients attending the Centre.

UNASSIGNED: Aphakic pupillary block glaucoma is a rare complication after congenital cataract surgery. We describe the case of an infant with acute angle closure in an aphakic eye following congenital cataract lensectomy with anterior vitrectomy nine months prior. Potential pathophysiology and therapeutic strategies are discussed.
UNASSIGNED: A one-year-old male infant presented to our emergency unit with right eye injection and pain. At the age of six weeks he had undergone right eye lensectomy with anterior vitrectomy for congenital cataract and was left aphakic with large anterior and posterior capsulorrhexis. Examination was significant for a shallow anterior chamber centrally and iridocorneal touch of the periphery for 360° with intraocular pressure (IOP) measured at 70 mmHg. The child was diagnosed with aphakic pupillary block leading to an acute angle closure event. He underwent emergent anterior vitrectomy with surgical peripheral iridotomy (PI) performed via pars plana approach. This resulted in immediate deepening of the anterior chamber, with resolution of the pupillary block and iridocorneal touch. Thereafter, his ocular exam was normal.
UNASSIGNED: This unusual case underscores the importance of vigilance in the postoperative management of children after congenital cataract extraction. Unexpected complications remain a threat despite the initial undertaking of preventative measures.

OBJECTIVE: To explore the effectiveness and safety of vitrectomy for congenital cataract surgery.
METHODS: We searched PubMed, Science Direct, The Cochrane Library, China National Knowledge Infrastructure and the Wanfang Database. Two researchers extracted data and assessed paper quality independently. Posterior capsule opacification (PCO) or visual axis opacification (VAO), reoperation rate, visual acuity, intraocular lenses (IOL) deposit, synechias, uveitis, secondary glaucoma, low-contrast sensitivity and IOL decentration were compared.
RESULTS: We included 11 randomized controlled trials (RCTs) with 634 congenital cataract eyes. Cases of posterior capsule opacification in vitrectomy group were significantly less than that of control group, with risk ratio (RR) of 0.15 [95% confidence interval (CI): 0.09, 0.26], and there was no heterogeneity (I2  = 0%, p = 0.94). Reoperation rate in vitrectomy group was lower than that of control group either (RR = 0.40, 95%CI: 0.17, 0.94), and there was no heterogeneity (I2  = 0%, p = 0.85). Best-corrected visual acuity (BCVA) measured in LogMAR unit of vitrectomy group was smaller, with a mean difference (MD) of -0.17 (95%CI: -0.28, -0.05), and I2 was only 22%, indicating of a small heterogeneity. No statistical difference was found between two groups on IOL deposit (RR = 1.23, 95%CI: 0.70, 2.17), and the heterogeneity was small (I2  = 16%, p = 0.31). No statistical difference was found between two groups on synechias (RR = 1.08, 95%CI: 0.60, 1.94), with a quite small heterogeneity (I2  = 3%, p = 0.38). No statistical difference was found between two groups on uveitis (RR = 0.55, 95%CI: 0.15, 2.01), and there was no heterogeneity (I2  = 0%, p = 0.94). There was no statistical difference on IOP either, with a MD of 0.25 (95%CI: -1.56, 2.07), and there was no heterogeneity (I2  = 0%). Egger\'s test showed that there was no publication bias for all assessed outcomes. Low-contrast sensitivity was better in the vitrectomy group. And no evidence indicated vitrectomy could lead to a higher risk on secondary glaucoma or IOL decentration.
CONCLUSIONS: Vitrectomy helps lower the PCO risk and reoperation risk after congenital cataract surgery, and also, vitrectomy helps patients gain a better BCVA and achieve a better low-contrast sensitivity, with no trade-off on IOP control, IOL deposit, synechias, uveitis and secondary glaucoma. We recommend performing vitrectomy during congenital cataract surgery.

OBJECTIVE: Persistent fetal vasculature (PFV) is a unique ocular disorder usually presenting early in life. The unregressed embryonal hyaloid vasculature poses a risk of severe ocular complications leading to decreased visual acuity. Surgery is the mainstay of therapy in complicated cases. We describe the clinical presentation and surgical treatment of PFV managed at our center from 2012 to 2015.
METHODS: The study is a case series comprised eight patients who were diagnosed with complicated severe PFV. All were managed with a tailored surgical approach. The clinical characteristics, medical and surgical treatment, and follow-up findings of each case are described.
RESULTS: There were six males and two females. Surgical intervention involved anterior or posterior vitrectomy, lens extraction, and intraocular lens implantation. Hyaloid stalk removal with release of ciliary traction was variably utilized in selected cases. Endodiathermy controlled intraocular bleeding, and intraocular scissors proved helpful in anterior PFV for disinserting the ciliary process from an abnormally thickened posterior lens capsule. Visual outcomes differed in each case, depending on multiple clinical factors.
CONCLUSIONS: Severe complex PFV presents a therapeutic challenge. A tailored surgical approach with meticulous postoperative management is essential for visual rehabilitation.

The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them. No copy-number genomic imbalances were detected by high-density microarray analysis. The mother had a preferential inactivation of the normal X chromosome; expression analysis did not detect any mRNA isoform of NHS. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.