The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.

UNASSIGNED: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
UNASSIGNED: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
UNASSIGNED: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.

OBJECTIVE: Cataract surgery in microphthalmic eyes is challenging due to anatomical restraints, hard bulky nucleus. This series aims to evaluate the safety and efficacy of couching of intraocular lens in irido-fundal coloboma with microphthalmos.
METHODS: Tertiary care centre in South India.
METHODS: Retrospective non-comparative study in eyes with irido-fundal coloboma, corneal diameter < 7 mm and brown cataract. Visual acuity less than 6/60 in other eye.
METHODS: Anterior chamber entry made, zonules broken and lens dislocated into the vitreous cavity in a controlled manner. Baseline Clinico-demographic details, corrected distance visual acuity (CDVA), Intra-ocular pressure (IOP), corneal diameter, axial length, lens status and post-surgery CDVA, IOP and complications recorded and followed up for atleast 6 months.
RESULTS: Fifteen eyes of 15 subjects were evaluated with a mean age 49.4 ± 10.9 years. At baseline, mean IOP 14.5 ± 3.8 mmHg, mean axial length 19.3 ± 0.5 mm, mean corneal diameter was 6.5 ± 0.34 mm and CDVA 2 logMAR which improved to 1.5 logMAR at 3 months (p value 0.002). Transient spike in IOP in 33.3% subjects was medically managed with no significant difference in IOP (p > 0.05) at baseline (14.5 ± 3.8 mmHg), 3 months post-surgery (16 ± 2.8 mmHg) and 6 months post-surgery (14.9 ± 2.5 mmHg). One patient underwent re-couching. No other major complications were noted.
CONCLUSIONS: Couching of cataractous lens is an effective and safe method in microphthalmic eyes with irido-fundal coloboma as last resort procedure, where no other surgical procedure may work. It provides an ambulatory gain of visual acuity in previously non-ambulatory subjects. Corneal measurements help in determining the subset of patients where couching offers viable option.

UNASSIGNED: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea.
UNASSIGNED: Observational study.
UNASSIGNED: A Chinese family diagnosed with autosomal dominant (AD) CCs with or without microphthalmia.
UNASSIGNED: Because this was an observational study, it was not registered as a clinical trial. The proband and her 2 children were diagnosed with AD CCs and microcornea and were recruited for the study. Participants underwent complete ophthalmological examinations, and blood samples were used for genomic extraction.
UNASSIGNED: We detected 1 disease-associated variant using Exomiser analysis by matching the proband\'s phenotype and the inheritance pattern. The variant was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines.
UNASSIGNED: We detected 1 disease-associated variant using Exomiser analysis by matching the proband\'s phenotype and the inheritance pattern. The variant was determined to be pathogenic according to the American College of Medical Genetics and Genomics guidelines. Next-generation sequencing was verified using Sanger sequencing, and we confirmed that the proband and her children carried the same mutation. We identified the heterozygous variant c.389_390insGCTG (p.C130fs), which includes a frameshift mutation. The residues in p.C130fs are all highly conserved across species. This disease-causing frameshift mutation in the CRYGC gene is not currently present in the ClinVar database.
UNASSIGNED: Our findings expand the repertoire of known mutations in the CRYGC gene that cause CCs and provide new insights into the etiology and molecular diagnosis of CCs; however, the molecular mechanism of this mutation warrants further investigation.

OBJECTIVE: To evaluate the graft rejection and visual outcomes after penetrating keratoplasty (PK) in the presence of various congenital corneal opacities in children.
METHODS: In this retrospective cohort study, children who underwent PK were then followed for 5y. The patient\'s medical records were collected from June 2014 until June 2019 and analyzed in December 2019. All patients were children under three years old with congenital corneal opacities with or without microcornea who came to a pediatric ophthalmologist and underwent PK in Jakarta Eye Center (JEC). Beforehand, all children have participated in a thorough evaluation for PK. In the case of severe microcornea was not advised to undergo surgery. The visual outcomes and graft survival rate were described in percentages. The graft survival plot was presented with Kaplan-Meier, while the visual acuity was analyzed using the Wilcoxon signed ranks test.
RESULTS: Sixteen eyes from eleven patients (seven girls and four boys) underwent PK. The graft survival rate of the first 6, 12, and 18 mo later of keratoplasty was 100%, 83.3%, and 66.7%, respectively. The overall mean survival time is 22mo (standard error 2.419), and no significant difference between the patients underwent PK before and after 36mo of their age (P=0.52). The graft failure was 50%, and post-surgery complications included cataract 43.7%, band keratopathy 12.5%, and scleromalasia 6.25%. Wilcoxon test analysis of visual acuity post keratoplasty was not statistically significant (P=0.34), while overall showed 44% improvements of visual outcome for 5y of follow-up. With a good survival at one year up to 22mo (83.3%), the visual acuity could be achieved (63%), and showed improvements (44%) during follow-up.
CONCLUSIONS: The complications are frequent for pediatric PK. Thus, corneal surgery on infants requires careful case selection, adequate pre-operative evaluation, skilled surgery (optical correction), very close cooperation family-physician, intensive post-operation care, and amblyopia management in the future.

To report a case of bilateral pseudophakic bullous keratopathy (PBK) in a patient having bilateral microcornea with pre-existing anterior chamber intraocular lens (ACIOL) who underwent Descemet stripping endothelial keratoplasty (DSEK) with a successful postoperative visual outcome. A 36-year-old female, diagnosed with microcornea and congenital cataract in both eyes underwent lens aspiration sequentially followed by ACIOL implantation in both eyes. The patient reported to our centre and was diagnosed with bilateral PBK with ACIOL with microcornea. She also had associated secondary glaucoma, postoperative chronic uveitis, and hyphaema, which were controlled with medical management first and taken into consideration while planning DSEK. The patient underwent manual DSEK without intraocular lens exchange under local anaesthesia in both eyes sequentially with a good visual recovery postoperatively in both eyes. Descemet stripping automated endothelial keratoplasty (DSAEK)/DSEK seems a viable option in patients with microcornea who develop PBK following cataract surgery with retained ACIOL where there is absence of capsular support as well as deficiency of iris tissue.

We are reporting a case of a 22-year-old lady with bilateral microphthalmia and microcornea, in which a modified technique for sutureless scleral fixated intraocular lens implantation provided a successful aphakic rehabilitation alternative with a good visual outcome and significant improvement in quality of life. Management of aphakia in microphthalmic eyes is challenging due to the anatomical abnormalities and limited literature on managing such cases. Visual rehabilitation for aphakia using contact lenses is limited by intolerance and poor lens fitting. Significant optical aberrations may limit aphakic spectacle use, further exacerbated in patients with nystagmus. Thus, secondary IOL implantation seems to be a reasonable rehabilitation alternative; however, it is surgically challenging in microphthalmic eyes.

Purpose: Conventional cataract surgeries can be a challenge in eyes with microcorneas due to difficult manipulation in a crowded anterior chamber (AC) and can lead to a high occurrence of corneal edema and an increased rate of complications. Similarly, in cases of dense brunescent cataracts even a lensectomy through posterior approach may prove to be difficult because of inadequate visualization. An endoscopyassisted pars plana lensectomy can help in obviating these difficulties. This study aims to describe the surgical technique of endoscopy-assisted pars plana lensectomy in eyes with brunescent cataract, microcornea, and microphthalmos.Methods: Retrospective review of two cases where endoscopy-assisted pars plana vitrectomy and lensectomy was performed for patients with dense cataract and microcornea and microphthalmos.Result: Complete clearance of the cataract was achieved without having to resort to a sclerocorneal incision. Postoperatively the cornea was clear and there was no postoperative corneal edema.Conclusion: Endoscopy-assisted pars plana lensectomy can help in overcoming the challenges of conventional anterior and posterior approaches of cataract extraction in cases of microcornea with reduced intraoperative and postoperative complications.

UNASSIGNED: To report an unusual and rare case of both eyes fixed in an extreme superomedial position.
UNASSIGNED: A case of 48-year-old woman presented with both eyes fixed in an extreme superomedial position; the microcorneas were covered almost completely by the upper eyelids even when she opened her eyes. A forced duction test was performed to confirm there were severe restrictions in all directions. She underwent disinsertion of the superior and medial rectus muscle, inferior oblique muscle belly transposition and sclera fixation. At the 1-year follow-up, there was improved ocular alignment.
UNASSIGNED: This case may be a special form of myopic strabismus fixus. The infratemporal fossa may be a bony landmark related to the etiology of global fixation.

BACKGROUND: Rubella is an important infectious, vaccine-preventable etiology of congenital defects. The aim of the study was to develop a prediction nomogram to assess the probability of an infant being at risk for congenital rubella based on demographics and ophthalmological findings.
METHODS: This was a cross-sectional sentinel surveillance study conducted at 5 centers spanning pan-India and involved 1134 infants. The diagnosis of rubella was made using standard guidelines. For the construction of the prediction model, laboratory-confirmed cases were grouped as \"at-risk\" (AR) infants and the discarded cases into \"not at risk\" (NAR) infants. Univariate analysis (p value cut-off < 0.05) followed by multivariate binary logistic regression model development was performed.
RESULTS: The average (median) age of the suspected CRS infants was 3 (IQR 1-6) months, and the average (mean) age of their mothers was 25.8 ± 4.1 years. Out of the total infants, 81 (7.3%) died, 975 (88%) were alive, and 55 (5.0%) were lost to follow-up. The final model showed that the odds of cataract, retinopathy, glaucoma, microcornea, and age of the infant at presentation were 3.1 (2.2-4.3), 4.9(2.3-10.4), 2.7(1.1-5.9), 2.3(1.1-4.7), and 1.1 (1-1.1), respectively, for the AR infant as compared to NAR infant. AUC of final model was 0.68 (95% CI Delong, 0.64-0.72). Bootstrapping for calibration of the model showed satisfactory results. Nomogram, along with a web version, was developed.
CONCLUSIONS: The developed nomogram would have a wide community-based utilization and will help in prioritizing attention to high-risk children, thereby avoiding loss to follow-up.