This case study highlights the advances in fetal ultrasonography, illustrating its role in early detection and management of congenital cataracts. We present the case of a male infant with a family history of congenital cataracts, where an in-utero ultrasound examination at 25 weeks of gestation revealed potential cataracts. His mother and brother underwent cataract surgery. After birth examination revealed that the infant was diagnosed with bilateral congenital cataracts at two days. Bilateral lens aspiration and anterior vitrectomy without intraocular lens insertion were done. Postnatal examinations and surgical interventions, including bilateral lens phacoemulsification and anterior vitrectomy without intraocular lens insertion, were conducted. This study discusses the importance of early detection, especially in familial cases, and the role of prenatal and postnatal care in managing congenital cataracts. It underscores the need for collaboration between ophthalmologists and obstetricians and the value of psychological support for the parents. The findings advocate for proactive fetal monitoring, particularly in genetically predisposed cases, to facilitate early diagnosis and treatment planning.

Patients with mutations in the α/β-hydrolase (ABHD) 12 gene develop ocular complications including cataracts and retinitis pigmentosa (RP), as part of the polyneuropathy, hearing loss, ataxia, RP, and cataract (PHARC) syndrome. A chart review on a patient with a heterozygous mutation on the ABHD12 gene underwent a comprehensive ophthalmic evaluation. Visual acuity was 0 and 1.3 (logMAR) on the right eye (OD) and left eye (OS), respectively. There was pseudophakia in the OS. Fundus examination in OD was normal and pale optic nerve, attenuated vessels, cystoid macular edema, and mid-peripheral bony spicules were found in OS. Visual field test showed a ring scotoma in the OS. Macular optical coherence tomography (OCT) and fundus autofluorescence were compatible with cystoid macular edema of the OS. The electroretinogram (ERG) of left eye was flat. Patient\'s systemic findings included: polyneuropathy and hearing loss. Unilateral presentation of cataract and RP in a patient with a heterozygous pathogenic mutation on the ABHD12 gene is rare. This could be due to mosaicism. Retinal follow-up is warranted in this patient since manifestations may occur later in the contralateral eye. A heterozygous pathogenic mutation on the ABHD12 gene may lead to partial ocular and systemic manifestations of the PHARC syndrome.

UNASSIGNED: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the ABHD12 gene, which encodes αβ-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have been reported in the literature.
UNASSIGNED: We evaluated the 25-year-old male patient referred to us due to vision loss, cataracts, and hearing loss. Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing.
UNASSIGNED: In the genetic analysis, the patient was diagnosed with PHARC syndrome by detecting homozygous (NM_001042472.3): c.871del (p.Tyr291IlefsTer28) novel pathogenic variation in the ABHD12 gene. Following the molecular diagnosis, he was referred to the neurology department for reverse phenotyping and sensorimotor demyelinating polyneuropathy was detected in the neurological evaluation.
UNASSIGNED: In this study, we report a novel variation in ABHD12 gene in the first Turkish-origin PHARC patient. We present this study to contribute genotype-phenotype correlation of PHARC syndrome and emphasize the importance of molecular genetic diagnosis in order to determine the appropriate clinical approach. This report is essential for expanding the phenotypic spectrum in different populations and understanding the genotype-phenotype correlation of PHARC syndrome via novel pathogenic variation in the ABHD12 gene.

OBJECTIVE: Larger-than-planned capsulotomies can occur, yet their association with age and eye parameters remains poorly understood. This study aimed to assess capsulotomy enlargement after femtosecond laser treatment in cataract surgery and to explore a possible correlation of capsulotomy enlargement with age and eye parameters.
METHODS: This retrospective case series included consecutive patients diagnosed with cataracts between 05/2018 and 11/2019. Among them, patients within the age ranges of <18, 18-49, and ≥50 years were assigned to the childhood cataract (CC), young adult cataract (YAC), and age-related cataract (ARC) groups, respectively. The capsulotomy enlargement ratio (CER), age, degree of cataract, lens thickness (LT), axial length, and anterior chamber depth were recorded and analyzed.
RESULTS: A total of 155 participants (179 eyes) were enrolled. The CER was significantly different among the three groups (CC: 1.245 vs. YAC: 1.060 vs. ARC: 1.029, P<0.001). The CER was found to be independently associated with both age (β=-0.011 (0.001), P<0.001) and LT (β=-0.049 (0.017), P=0.006) in the CC group, but it was only independently correlated with age (β=-0.004 (0.001), P=0.002) in the YAC group and LT (β=-0.014 (0.007), P=0.048) in the ARC group.
CONCLUSIONS: Capsulotomy enlargement can occur after femtosecond laser treatment in cataract surgery, especially in the non-adult group. Age was a determinant of the CER in CC and YAC groups, while LT was an independent determinant of the CER in CC and ARC groups. These two factors should be taken into consideration for more precise sized capsulotomy.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in HFE, the gene associated with autosomal recessive inheritance hereditary hemochromatosis. Whole-exome sequencing was performed in eight individuals with HHCS from three different families, as well as one unaffected member from each family for trio analysis-a total of eleven individuals. Ophthalmological and clinical genetic evaluations were conducted. The likely pathogenic variant c.-157G>A in FTL was found in all affected individuals. They presented slowly progressing bilateral cataract symptoms before the age of 14, with a phenotype of varied bilateral diffuse opacities. Hyperferritinemia was present in all affected members, varying from 971 ng/mL to 4899 ng/mL. There were two affected individuals with one concurrent pathogenic variant in HFE (c.187C>G, p.H63D), who were also the ones with the highest values of serum ferritin in our cohort. Few publications describe individuals with pathogenic mutations in both FTL and HFE genes, and further studies are needed to assess possible phenotypic interactions causing higher values of hyperferritinemia.

BACKGROUND: Cataracts affect the optics of the eye in terms of absorption, blur, and scattering. When cataracts are unilateral, they cause differences between the eyes that can produce visual discomfort and harm binocular vision. These interocular differences can also induce differences in the processing speed of the eyes that may cause a spontaneous Pulfrich effect, a visual illusion provoking important depth misperceptions. Interocular differences in light level, like those present in unilateral cataracts, can cause the Classic Pulfrich effect, and interocular differences in blur, like those present in monovision, a common correction for presbyopia, can cause the Reverse Pulfrich effect. The visual system may be able to adapt, or not, to the new optical condition, depending on the degree of the cataract and the magnitude of the monovision correction.
METHODS: Here, we report a unique case of a 45-year-old patient that underwent unilateral cataract surgery resulting in a monovision correction of 2.5 diopters (D): left eye emmetropic after the surgery compensated with a monofocal intraocular lens and right eye myopic with a spherical equivalent of -2.50 D. This patient suffered severe symptoms in binocular vision, which can be explained by a spontaneous Pulfrich effect (a delay measured of 4.82 ms, that could be eliminated with a 0.19 optical density filter). After removing the monovision with clear lens extraction in the second eye, symptoms disappeared. We demonstrate that, at least in this patient, both Classic and Reverse Pulfrich effects coexist after unilateral cataract surgery and that can be readapted by reverting the interocular differences. Besides, we report that the adaptation/readaptation process to the Reverse Pulfrich effect happens in a timeframe of weeks, as opposed to the Classic Pulfrich effect, known to have timeframes of days. Additionally, we used the illusion measured in the laboratory to quantify the relevance of the spontaneous Pulfrich effect in different visual scenarios and tasks, using geometrical models and optic flow algorithms.
CONCLUSIONS: Measuring the different versions of the Pulfrich effect might help to understand the visual discomfort reported by many patients after cataract surgery or with monovision and could guide compensation or intervention strategies.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues. Hence, we report clinical and imaging of a 31-year-old mentally retarded man with cerebellar ataxia, bilateral swelling of the posterior aspect of Achill, and infertility.

Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings. We report a fifth patient, with a relatively mild phenotype. He presented at 5 years of age with bilateral posterior cataracts, which were managed with lensectomies and intraocular lens implants. He also had learning difficulties, with a full-scale IQ of 64 at 11 years of age. His head circumference is between the 0.4th and 2nd centiles, and he has mild hypotonia and subtle dysmorphism (a high-arched palate, anteverted nostrils, long philtrum and clinodactyly of toes). The diagnosis was established after sequencing a panel of genes associated with cataracts, which revealed compound heterozygous SC5D mutations: c.479C>G p.(Pro160Arg) and c.630C>A p.(Asp210Glu). The plasma lathosterol concentration was markedly raised at 219.8 μmol/L (control range 0.53-16.0), confirming the diagnosis. The c.630C>A p.(Asp210Glu) mutation has been reported in one previous patient, who also had a relatively mild phenotype (Ho et al., JIMD Rep 12:129-134, 2014). The mutation leads to a relatively conservative amino acid substitution, consistent with some residual enzyme activity. Our patient\'s family did not notice any benefit from treatment with simvastatin. In summary, milder patients with lathosterolosis may present with learning difficulties, cataracts and very subtle dysmorphism. The diagnosis will be missed unless plasma sterols are analysed or relevant genes sequenced.

Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral congenital cataracts, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Herein, we describe a new case of SC4MOL deficiency in which a 19-year-old Italian male was affected by bilateral congenital cataracts, growth delay and learning disabilities, behavioral disorders and small stature, but not microcephaly. Our patient had abundant scalp dandruff, without other skin manifestations. Analysis of the blood sterol profile showed accumulation of C4-monomethyl and C4-dimethyl sterols suggesting a deficiency of the SC4MOL enzyme. Sequencing of the MSMO1 gene (also known as the \"SC4MOL\" gene) confirmed mutations in each allele (c.731A>G, p.Y244C, which is already known, and c.605G>A, p.G202E, which is a novel variant). His father carried c.731A>G mutation, whereas his mother carried c.605G>A. Thus, the combination of multiple skills and methodologies, in particular, blood sterol profiling and genetic analysis, led to the diagnosis of a new case of a very rare defect of cholesterol biosynthesis. Consequently, we suggest that these two analyses should be performed as soon as possible in all undiagnosed patients affected by bilateral cataracts and developmental delay.