Childhood cataract is a common cause of visual impairment. Familial types are uncommon among Filipinos. Furthermore, it is not common to have one that follows an autosomal dominant pattern of inheritance but with associated syndromic presentation like Roberts syndrome which is an autosomal recessive disorder. This is a case of a 9-year-old Filipino boy with cataract in the left eye associated with low-set ears, facial asymmetry, underdeveloped nasal ala, cleft lip and palate, macroglossia, micrognathia, short right shin, and absent feet. Patient was clinically diagnosed with Roberts syndrome. We present a clinically diagnosed Roberts syndrome (RS), the first reported RS in a Filipino in local and international literature to our knowledge with an autosomal dominant childhood cataract. Genetic testing can assist in the confirmation of this case.

UNASSIGNED: Congenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye\'s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years.
UNASSIGNED: In this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family.
UNASSIGNED: Through whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets.
UNASSIGNED: Hence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataracts. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients.

UNASSIGNED: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype.
UNASSIGNED: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES).
UNASSIGNED: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals.
UNASSIGNED: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.

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.

BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma.
RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation.
CONCLUSIONS: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.

UNASSIGNED: To analyze the results of ocular refraction at the age of 7 years in children after congenital cataract surgery with intraocular lens (IOL) implantation.
UNASSIGNED: A study of ocular biometric data of 143 eyes who underwent lens aspiration with IOL implantation in unilateral (23 eyes) and bilateral (60 eyes) congenital cataracts was performed. All children were divided into groups according to the age categories at the time of surgery: Group A (0-12 months) - 43 eyes; Group B (12-36 months) - 45 eyes; and Group C (older than 36 months) - 55 eyes. An empirical reduction of the implanted IOL power was performed: an undercorrection of 20% in children aged 0 to 36 months and 10% less in children aged 36 to 60 months.
UNASSIGNED: By age 7 years, the mean elongation ± standard deviation (SD) in Group A was 3.93 ± 1.64 mm, 2.13 ± 0.94 mm in Group B, and 0.95 ± 0.76 mm in Group C (18.7%, 9.5%, and 4.1% of the baseline axial length, respectively). There was no significant difference in axial elongation between unilateral and bilateral congenital cataracts (P = 0.32). The mean absolute refraction error (MAE) at last examination was 3.99 ± 2.12 diopter (D), 2.46 ± 1.48 D, and 1.59 ± 1.31 D in Groups A, B, and C, respectively. In infants younger than 7 months of age, by age 7 years, the mean elongation ± SD was 3.27 ± 2.86 mm (25.5%) and MAE was 3.44 ± 2.1 D. The prevalence of preoperative corneal astigmatism of 1.0 D or more was 48.95%, 2.0 D or more was 27.27%, and 3.0 D or more was 5.6%. There was no significant difference in preoperative corneal astigmatism between unilateral (1.62 ± 0.77 D) and bilateral (1.78 ± 0.90 D) congenital cataracts (P = 0.56, 95% confidence interval = -0.50-0.28). Best-corrected visual acuity (BCVA) more than 20/40 was in 53.49%, 55.55%, and 74.54% in Groups A, B, and C, respectively.
UNASSIGNED: Although IOL power was calculated in accordance with children\'s age, at the age of 7 years, there was a different degree of ametropia because of the biometric changes of the growing eye, and a higher rate of ametropia was observed more in the younger age group than in the elder age groups.

We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development. Genetic investigation revealed the boy had a splicing variant (c.940-11G>A) of the oculocerebrorenal syndrome of Lowe (OCRL) gene. The boy underwent a lensectomy for congenital cataract in his right eye, and lensectomy combined with a 360° suture trabeculotomy to remove the clouded lens and to control IOP of the left eye. During postoperative one-and-a-half-year follow-up, the boy exhibited an improved visual acuity and a well-controlled IOP without the use of topical IOP-lowering medications. Lowe syndrome is a rare multisystemic disorder that is diagnosed through clinical manifestation and genetic testing. The possibility of Lowe syndrome should be considered in patients presenting with typical triad, and genetic analysis should be performed in time to confirm the diagnosis. We recommend combined cataract surgery and minimally invasive glaucoma surgery (MIGS) as a safe, feasible, and efficient method to treat congenital cataract and glaucoma in Lowe syndrome patients.

Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history. Case presentation: A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a de novo variant (c.394delG, p.V132Sfs*15) in CRYGC gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic. Conclusion: Our findings provide new knowledge of the variant spectrum of CRYGC gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.

BACKGROUND: Eyes with a short axial length or anterior chamber depth often develop narrowed anterior chamber angles in association with an enlarging crystalline lens. We report a case of a patient who presented in angle closure, with a distant history of prior intervention for congenital cataracts and was presumed to be aphakic.
METHODS: A 78-year-old male presented with acute onset unilateral eye pain and blurred vision. He was found to have increased intraocular pressure, anteriorly bowed iris, and angle closure. Despite prior documentation of aphakia after treatment for congenital cataracts, detailed workup revealed residual crystalline lens material pushing the peripheral iris anteriorly. Further history confirmed that the patient underwent a procedure in the 1940\'s to remove lens material centrally but was not truly aphakic. The patient was treated with anterior chamber paracentesis and intraocular pressure lowering drops. His intraocular pressure remains controlled with medical therapy alone.
CONCLUSIONS: Patients that appear to be aphakic centrally may still present with angle closure secondary to residual peripheral lens material. This case highlights the importance of keeping this etiology on the differential in a patient with presumed aphakia.