Bilateral Nuclear Cataracts Research Articles

EVALUATION OF DEMOGRAPHIC PROFILE AND VISUAL OUTCOMES OF CATARACT PATIENTS OPERATED IN A CHARITABLE CAMP HOSPITAL IN CENTRAL INDIA

Aim: To Study the Demographic Profile and visual Outcomes of Cataract Patients Operated in a Charitable Camp in Central India Introduction Cataract is a leading cause of preventable blindness globally. Developing countries account for three quarters of cataract blindness worldwide. Despite the large number of corrective surgeries being performed globally cataract blindness is believed to be increasing by1–2 million/year. The present study was conducted in the patients residing in a peripheral rural area of Indore division (central India) to study the demographic and clinical profile of patients with cataract. This study supplements to understand the outcomes of such patients who were operated in camp at a tertiary care center. Study Design: It is a prospective descriptive study conducted on camp patients at a charitable tertiary eye care hospital (Central India) from December 2019 to February 2020.Wirtten informed consent was taken from patients for participation in this study. Setting: Department of Ophthalmology Choithram Netralaya, Indore from December 2019 to February 2020. Material and Methods: During the study period 139 surgeries were performed by the surgeon. All patients above 40 years of age having senile cataract with stable systemic condition were included. Patients with age less than 40 years of age, uncontrolled systemic condition, Patients with other ocular comorbidities, undergone previously any ocular surgery in the selected eye or not giving written informed consent were excluded.All the patients were screened for cataracts in the camps in the periphery by the trained optometrist and referred to the base hospital. Detailed pre-operative ocular examination of all the patients was performed and medical checkup with routine pre-operative profile was also done. Patients medically fit for cataract surgery underwent small incision cataract surgery with Posterior capsular IOL implantation (PCIOL) under local anesthesia. All the cataract surgeries were performed by a single surgeon using the same technique to avoid any bias. Results: It was observed that the mean age of presentation was 61.5 years with female preponderance of nearly (56.8%) . out of 139 patients 63 patients (45.3,%) had systemic comorbidities, which included ,33 patients (23.74%) with hypertension and 28 patients(20.14%) with Diabetes mellitus. Majority of patients i.e.101 (72.66%) patients had onset of ocular symptoms between 3 to 6 months . In this study bilateral immature nuclear cataract was commonly encountered cataract in 88.48% of patients and only 8 patients had mature cataract and 7 patients presented with hyper mature cataract respectively .On post-operative day one, 19 patients and 8 patients had blood clot in anterior hamber,5 patients had cortical matter in Anterior chamber On follow up at one week, majority of patients i.e 110 (79.13%) had visual acuity between 6/9-6/12.Patients after re-surgery had visual acuity of minimum up to 6/24 with possibility of getting better on further visits. Conclusion: In our study, increasing age and female gender were commonly associated with cataract. Most of the patients had bilateral cataract and low vision at presentation. Hypertension and type 2 diabetes mellitus were commonly associated systemic disorders with cataract.This study highlights that high quality cataract surgery with a low intra-operative complication rate and good visual outcome can be attained even in camp patients operated in the base hospitals with standard protocols.

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.

Congenital cataract is a common cause of blindness in childhood. About half of the cases have a genetic etiology, and more than 100 genes have been associated with congenital cataracts. This study reports the clinical and genetic findings of a two-generation Chinese family affected by congenital cataract. Ophthalmologic examinations were performed for clinical evaluation of the cataract patients. Whole exome sequencing (WES) and Sanger sequencing were used to identify potentially relevant mutations. The online programsProtein Variation Effect Analyzer (PROVEAN) and Sorting Intolerant from Tolerant (SIFT) were employed to predict the impact of variation on protein function. Both the proband and her mother were blind because of bilateral nuclear cataracts, and the elder brother of the proband also manifested obvious bilateral cataracts. Sanger sequencing confirmed the mutations in the proband as well as in her mother. The elder brother simply carried the PAX6 c.221G>A variation. The WFS1 c.2070_2079del variation potentially generates a loss-of-function mutant. The novel PAX6mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) may interactively aggravates this process. These findings may increase our understanding of the genetic etiology of congenital cataract.

Retinitis due to Rickettsia infection

A 67-year-old woman with type 2 diabetes presented to our hospital with decreased left vision for 7 days. On examination, right visual acuity was 20/30, and left visual acuity was 20/50. Intraocular pressures were both normal. Anterior chambers were deep and uninflamed, with bilateral nuclear sclerotic cataracts. There was mild left vitritis, but none in the right eye. Right fundoscopy was normal. Left fundoscopy showed one-disc diameter of unifocal retinitis along the superior vascular arcade (figure A). Left fluorescein angiography revealed late staining in the area of retinitis. The patient was treated presumptively with anti-toxoplasmosis and anti-herpes therapy (oral pyrimethamine [100 mg for the first day then 50 mg daily] and oral sulfadiazine [1 g three times daily] for toxoplasmosis, and intravenous aciclovir [800 mg three times daily] for herpetic retinitis), while awaiting laboratory results. PCR testing of anterior chamber taps were negative for Herpes simplex virus and toxoplasmosis. Negative Treponema pallidum hemagglutination and venereal disease research laboratory test excluded syphilis. Negative QuantiFERON-TB Gold test and tuberculin skin test were negative, and eliminated tuberculosis as a possible cause. Serum angiotensin converting enzyme and lysozyme were normal, which made sarcoidosis an unlikely explanation for the clinical findings. The patient's vision worsened to 20/200 in the left eye. Fundoscopy showed ongoing retinitis with a new retinal haemorrhage and serous macular detachment. She subsequently disclosed having episodes of malaise, headache, myalgia, skin rash (figure B), and fever (maximum 39·5°C; unresponsive to amoxicillin 500 mg three times a day), following travel to rural Algeria. Serology for Rickettsia conorii showed an elevated IgG titer of 1024 g/L, but was negative for IgM. Anterior tap PCR and cutaneous biopsy were negative for Rickettsia. Fundoscopy improved markedly after 7 days of treatment with doxycycline (200 mg daily). After 2 months, visual acuity was 20/20 and the retinitis resolved fully. This case illustrates the importance of careful history taking, and maintaining an index of suspicion for Rickettsia in patients who have travelled to an endemic area and present with fever, skin rash, and retinitis.

Syndrome d’Urrets-Zavalia: une complication imprédictible de chirurgie de cataracte!

We here report the case of a 80-year old patient admitted with bilateral cataract. The patient had a history of exfoliative glaucoma treated at an advanced stage but equilibrated with dual therapy (beta-blockers and prostaglandin) with papillary excavation (8/10 in the right eye and 07/10 in the left eye). Moreover he had reduced visual acuity to perception of finger movements in both eyes. Pre-operative intraocular pressure was 16 mmhg in both eyes. Maximum pupillary dilatation was 4mm. Bilateral dense nuclear cataract stage 4 was found with posterior subcapsular cataract and phacodonesis. Phacoemulsification cataract surgery was performed in the left eye with placement of iris retractors and capsular tension ring. Hydrophilic foldable lens implantation was performed within the capsular bag. After surgery hypertonia (35 mmhg) followed by significant inflammation in the anterior chamber, areflexic mydriasis and pigment dispersion occurred. The patient received anti-inflammatory and hypotonic treatment. Patient’s outcome was marked by the disappearance of hypertonia and inflammation, but areflexic mydriase, diffuse iris atrophy and posterior synechiae occurred. Tass syndrome and endophthalmia were excluded based on patient's outcome. The patient had recovery of visual acuity (01/10) after correction, which improved his quality of life.

Bilateral Intraoperative Floppy Iris Syndrome Associated with Silodosin Intake.

Intraoperative floppy iris syndrome (IFIS) is described by three characteristics: floppy iris that billows in reaction to intraocular fluid currents during phacoemulsification surgery, flaccid iris stroma that tends to prolapse through well-constructed surgical incisions, and progressive pupillary miosis despite preoperative pharmacologic dilatation. A 63-year-old man presented with decreased vision in both his eyes. Ophthalmic examination revealed bilateral nuclear cataract. He was prescribed silodosin for the management of benign prostatic hyperplasia a month ago. Consecutive cataract surgery was planned at a 2-week time interval. All features of IFIS were encountered in both eyes of the patient during phacoemulsification surgery. IFIS was successfully managed by the aid of an iris retractor, and a 20/20 final visual acuity was achieved postoperatively in both eyes of the patient. To the best of our knowledge, this is the first study about bilateral IFIS associated with silodosin intake. Ophthalmologists and urologists prescribing silodosin should be aware of this possible association.

A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes

The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with phenotypically distinct forms of congenital cataract and show different effects on the transactivation of target genes. Mutations in the MAF EHR region were rarely reported and their corresponding phenotype and impact on target genes' transactivation were not evaluated. A three- generation Chinese family with congenital cataract was recruited. The patients in the family present non-syndromic congenital nuclear and lamellar opacities. A novel MAF mutation (c.812 T > A, p.Val271Glu) was identified by targeted next-generation sequencing. The mutation is in highly conserved EHR region of MAF and co-segregates with the cataract in the family. It is predicted to be pathogenic by multiple algorithms and is absent in a control population. Dual luciferase activity assay shows the mutation significantly impair the transcriptional activity of four crystallin genes (CRYAA, CRYBA4, CRYBA1, and CRYGA) and two non-crystallin genes (HMOX1 and KDELR2). Herein, we report a novel missense mutation in the MAF EHR region of the DNA binding domain in a family with congenital cataract. The mutation is associated with non-syndromic bilateral nuclear cataract and impacts the transactivation of cataract associated genes involved in lens structure and stress response.

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.

Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present study, we used a custom-made TES panel to identify the genetic defect of a four-generation Chinese family with bilateral pulverulent nuclear cataracts. A novel heterozygous missense mutation c.443C>T (p. T148I) in GJA3 was identified. The results of the bioinformatic analysis showed that the mutation was deleterious to the structure and hemichannel function of Cx46 encoded by GJA3. Plasmids expressing wild-type and mutant human Cx46 were constructed and ectopically expressed in human lens epithelial cells (HLECs) or human embryonic kidney (HEK-293) cells. Fluorescent images indicated aggregated signals of mutant protein in the cytoplasm, and a higher protein level was also detected in T148I stable cell lines. In summary, we identified a novel mutation in GJA3 for ADCC, which provided molecular insights into the pathogenic mechanism of ADCC.

Possible mechanisms of development of carcinoma of breast in patients with early-onset cataract

Background: A nation-wide population based retrospective cohort study from Taiwan in 2014 suggested a propensity of developing breast cancer in young females with early-onset cataract. One such patient presented to us who was a young non-obese female with a large lump in the right breast with skin nodules and bilateral painless progressive diminution of vision. Patient was diagnosed as locally advanced carcinoma of right breast with axillary metastasis (stage IIIB) and bilateral early-onset nuclear cataract. Mechanism of this possible association has never been described.Methods: A comprehensive online English literature search was done using various electronic search databases. Different search terms related to pathogenesis of carcinoma breast and cataract, and their possible association, were used. An advanced search was further conducted by combining all the search fields in abstracts, keywords, and titles.Results: We summarized the data from the searched articles and found that there are certain biochemical pathways and genetic associations that link cancer to cataract. We identified four specific links between carcinoma breast and cataract (in some cases even early-onset cataract). The four mechanisms which explained this possible association included metabolic syndrome, action of reactive oxygen species, genetic polymorphisms and environmental factors.Conclusions: The evidence linking early-onset cataract with cancer is relatively new so possible mechanisms of development of breast cancer in patients with early-onset cataract needs to be elucidated. These plausible connections can further help to take up large scale molecular, biochemical, epidemiological and clinical studies to investigate this association in terms of cause-effect relationship. The impact this association can have, on understanding cataract and cancer pathogenesis; and its potential in reducing cancer incidence in patients with EOC, can be profound.

Ophthalmological abnormalities in wild European hedgehogs (Erinaceus europaeus): a survey of 300 animals.

In this study we aimed to examine wild European hedgehogs (Erinaceus europaeus) in rescue centres and to determine ocular abnormalities in this animal population. Three hundred animals varying in age from 2 months to 5 years were examined, 147 being male and 153 female. All animals were evaluated with direct and indirect ophthalmoscopy and slit lamp biomicroscopy in animals where lesions were detected. Tonometry using the Tonovet rebound tonometer was undertaken in selected animals as was assessment of tear production using the Schirmer I tear test. Four animals were affected by orbital infection, 3 were anophthalmic, 2 unilaterally and one bilaterally, 3 by conjunctivitis, 3 by non-ulcerative keratitis and 4 by uveitis with corneal oedema. Fifty seven animals were affected by cataract, 54 with bilateral nuclear lens opacities. Twenty six of these animals were young animals considered too small to hibernate. This report documents the first prospective study of ocular disease in the European hedgehog. The predominant finding was bilateral nuclear cataract seen particularly in young poorly growing animals. Investigation into the potential causation of cataracts by poor nutrition or poor feeding ability by lens opacification requires further study.

Wound temperature profiles of coaxial mini-incision versus sleeveless microincision phacoemulsification.

Temperature profiles at the corneal wound of coaxial mini-incision (2.4 mm) cataract surgery and sleeveless microincision (1.1 mm) cataract surgery were compared. Prospective, controlled, paired-eye clinical trial conducted in a tertiary care hospital. Twenty patients with mild-to-moderate bilateral nuclear sclerotic cataract. Twenty patients underwent bilateral cataract surgery within a 1-month period. One eye was operated on by conventional coaxial mini-incision (2.4 mm) phacoemulsification. The second eye underwent microincision surgery by using a naked phacoemulsification tip and a specialized 19-gauge anterior chamber maintainer as the sole fluid source (three-port microincision cataract surgery technique). Patients had moderate bilateral cataracts with no other anterior segment pathology. Temperature at the corneal wound was constantly recorded by using infrared thermal imaging. Temperatures at the corneal wound. Mean temperatures at the corneal surgical wound were not significantly different between the coaxial and sleeveless groups (31.1 °C ± 2.3 vs. 31.0 °C ± 2. 0; P = 0.89). There was also no difference in maximum temperatures reached during phaco-emulsification. Temperatures did not rise above 40 °C during any surgery, and there were no corneal burns. Final visual acuity and intraoperative and postoperative complication rates were similar between the two groups. The temperature profile at the surgical wound using a microincisional sleeveless phacoemulsification technique is comparable with that of the conventional coaxial mini-incision method.

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Autosomal dominant congenital cataracts (ADCC) are clinically and genetically heterogeneous diseases. The present study recruited two Chinese families with bilateral nuclear cataract or zonular pulverulent phenotype. Direct sequencing of candidate genes identified two novel missense mutations of Cx50, Cx50P59A (c.175C > G) and Cx50R76H (c.227G > A), both co-segregated well with all affected individuals. Bioinformatics analysis predicted deleterious for both mutations. Functional and cellular behaviors of wild type and mutant Cx50 examined by stably transfecting recombinant systems revealed similar protein expression levels. Protein distribution pattern by fluorescence microscopy showed that Cx50R76H localized at appositional membranes forming gap junctions with enormous cytoplasmic protein accumulation, whereas the Cx50P59A mutation was found inefficient at forming detectable plaques. Cell growth test by MTT assay showed that induction of Cx50P59A decreased cell viability. Our study constitutes the first report that the Cx50P59A and Cx50R76H mutations are associated with ADCC and expands the mutation spectrum of Cx50 in association with congenital cataracts. The genetic, cellular, and functional data suggest that the altered intercellular communication governed by mutated Cx50 proteins may act as the molecular mechanism underlying ADCC, which further confirms the role of Cx50 in the maintenance of human lens transparency.

A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog.

Hereditary cataract is a common ocular disorder in the purebred dog population and is a leading cause of visual impairment and blindness in dogs. Despite this, little is known to date about the genetics underlying this condition. We have used a genome-wide association study and targeted resequencing approach to identify a novel locus for cataracts in the Australian Shepherd breed of dog, using dogs that are clear of an HSF4 mutation, previously identified as the major susceptibility locus in this breed. Cataract cases were defined as dogs with bilateral posterior cataracts, or bilateral nuclear cataracts. Controls were at least 8 years of age with no evidence of cataracts or other ocular abnormality. Using 15 bilateral posterior polar cataract cases and 68 controls, we identified a genome-wide statistical association for cataracts in the Australian Shepherd on canine chromosome 13 at 46.4 Mb (P value: 1.5 × 10(-7)). We sequenced the 14.16 Mb associated region in ten Australian Shepherds to search for possible causal variants underlying the association signal and conducted additional fine-mapping of the region by genotyping 28 intronic variants that segregated correctly in our ten sequenced dogs. From this analysis, the strongest associated variants were located in intron 5 of the SCFD2 gene. Further study will require analysis of additional cases and controls and ocular tissue from dogs affected with bilateral cataracts that are free of the HSF4 mutation.

Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract

The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.

English

BACKGROUND: Congenital rubella syndrome (CRS) is the second leading cause of non- traumatic childhood cataracts in India. While nuclear cataract is the most common abnormality reported in CRS, congenital glaucoma is a rarer manifestation. CASE REPORT: A 34weeks low birth weight, male neonate was born by vaginal delivery with normal APGARS. The neonate had sparse hypo pigmented hair over the scalp, along with hypopigmented eye brows and eye lashes. There were erythematous lesions over palms, soles and groin region. Eye examination revealed bilateral nuclear cataracts along with buphthalmos. The neonate also had clinical manifestations of PDA, which was confirmed by 2-D Echo. Systemic involvement was seen as hepatosplenomegaly and bilateral cryptorchidism. Hence CRS was suspected and further evaluation was done. There was thrombocytopenia, mild unconjugated hyperbilirubinemia with elevated transaminases. Neurosonogram was normal and there were no intra cranial calcifications. TORCH profile in both mother and baby showed elevated rubella IgM levels confirming CRS. The neonate received supportive and symptomatic treatment. DISCUSSION: congenital nuclear cataracts are reported in 60-80% of CRS, while buphthalmos is rarely seen, more so in neonatal period. PDA occurs in 50% of CRS and two-thirds have hepatosplenomegaly. Rubelliform rash is infrequent in neonates with CRS. CONCLUSION: We report a preterm low birth weight, male neonate with congenital rubella syndrome and its rare manifestations.

A Case of Uneventful Cataract Surgery in Idiopathic True Exfoliation Patient

Purpose: We present a case of uneventful cataract surgery in an idiopathic true exfoliation patient with areas of capsular delamination based on scanning electron microscope and transmission electron microscope results. Case summary: A 77-year-old male presented with gradual deterioration of vision over 1 year in duration. Slit lamp examination revealed bilateral nuclear sclerotic cataracts with ring-shaped fibrous membrane floating within the anterior chamber in the right eye. In addition, the patient was diagnosed with cataract and true exfoliation of the right eye. He underwent uneventful phacoemulsification and posterior chamber intraocular lens implantation by placing capsulorrhexis outside the delaminated capsule margin. At 6 months after cataract surgery, the patient showed favorable visual outcome with uncorrected vision of 20/20 and intraocular pressure of 18 mm Hg in the right eye. J Korean Ophthalmol Soc 2014;55(5):766-769

Hyperferritinaemia; laboratory implications

In this edition, two articles describe cases of hyperferritinaemia. Thurlow et al. describe two novel mutations in the L-ferritin coding sequence associated with benign hyperferritinaemia showing abnormal ferritin glycosylation. Marshall et al. discuss causes of extreme hyperferritinaemia (plasma ferritin concentration .10,000 mg/L). The body’s iron content is controlled through absorption in the duodenum by active processes: free Fe2þ via the divalent metal transporter 1 and haem-bound iron via the haem carrier protein 1. Within the enterocyte, some of the iron combines with the protein apoferritin to form ferritin. Ferritin is the main intracellular iron storage protein, present in all cells but mainly in hepatocytes and reticuloendothelial cells. Free iron is exported from enterocytes via ferroportin into the circulation where it binds to transferrin for storage and transport. Transferrin-bound iron then enters target cells via receptor-mediated endocytosis. Hepcidin is an iron regulatory protein (IRP), and inhibits ferroportin. The human haemochromatosis protein (HFE) regulates the binding of transferrin to the transferrin receptor as well as regulating hepcidin. Caeruloplasmin also possesses ferroxidase activity that oxidizes Fe2þ into Fe3þ ions. Ferritin is a 450 kDa protein that possesses a spherical shell with a central cavity where up to 4500 iron atoms can be oxidized and stored. Ferritin is a multimer protein composed of H (heavy; 21 kDa) and L (light; 19 kDa) subunits in variable proportions depending upon the particular tissue. The ferritin H subunit expresses ferroxidase activity which oxidizes iron from the ferrous (Fe2þ) to the less toxic ferric (Fe3þ) form. The H-ferritin gene resides on chromosome 11 and the L-ferritin gene on chromosome 19. Hepatic ferritin synthesis can occur as part of an acute phase response being stimulated by cytokines such as tumour necrosis factor a and interleukin 1a. Ferritin synthesis also involves a relationship between an iron binding protein or IRP and the ferritin mRNA. In the presence of iron overload, the IRP inhibitory system is suppressed, resulting in an increase in ferritin synthesis. In the steady-state, plasma ferritin correlates with total body iron stores. Hyperferritinaemia occurs in iron excess syndromes such as certain forms of haemochromatosis and secondary iron overload conditions such as chronic haemolysis, iron poisoning, porphyria cutanea tarda, multiple blood transfusions and iron loading anaemias, e.g. betathalassaemia, congenital sideroblastic or dyserythropoietic anaemias. Hyperferritinaemia is also observed in acute and chronic inflammation, carcinoma, chronic infection and autoimmune disease. Cytolysis from the hepatocytes such as occurs in acute or chronic liver diseases also results in hyperferritinaemia. Hyperferritinaemia can occur in familial combined hyperlipidaemia and in familial hypertriglyceridaemia. Plasma ferritin concentration correlates also with diastolic blood pressure and plasma HDL-cholesterol concentration and may be a ‘marker’ of metabolic syndrome. Plasma ferritin may additionally be an independent indicator of poor glycaemic control in type 2 diabetes mellitus. It has also been suggested that in liver steatosis, hyperferritinaemia is associated with raised plasma C-peptide concentration and insulin resistance although there is not usually iron overload. A metabolic disorder associated with hyperferritinaemia and abnormal liver function but no iron overload has been described where patients also had one or more of the following: increased body mass index, dyslipidaemia, abnormal glucose tolerance or hypertension. Benign hyperferritinaemia (BH) is associated with a missense ferritin L-subunit mutation (p.Thr30Ile) without iron overload and usually showing a normal transferrin saturation. Hereditary hyperferritinaemia cataract syndrome (HHCS) is also a genetic condition that displays hyperferritinaemia without iron overload, usually with normal transferrin saturation and bilateral nuclear cataracts. Here, mutations of the ferritin L-subunit gene (19q13.1) as part of the iron regulatory element are responsible for the upregulation and hence overexpression of ferritin. Iron overload is not found in BH or HHCS because the raised plasma ferritin concentration is due to increased ferritin L-subunit production which is not involved in the storage of iron. It is important to differentiate such conditions from true iron overload as the BH or HHCS patients may develop iron deficiency anaemia if they undergo venesection. Other causes of hyperferritinaemia that may not present witha raised transferrin saturation includehaemochromatosis type 4a, or ferroportin (SLC40A1) disease which displays macrophage iron accumulation (African iron overload mutation) and also acaeruloplasminaemia. This is a genetic disorder of parenchymal iron overload, which manifests neurological abnormalities such as those of the

The Impact of Cataract, Cataract Types, and Cataract Grades on Vision-Specific Functioning Using Rasch Analysis

To determine the impact of cataracts and their types and grades on vision-specific functioning. Prospective population-based cross-sectional study. The Singapore Indian Eye Study examined 3400 of 4497 (75.6% response rate) ethnic Indians 40 years of age and older living in Singapore. Three thousand one hundred sixty-eight (93.2%) fulfilled inclusion criteria with complete information for final analysis. Cataracts were assessed on slit-lamp examination and were graded according to the Lens Opacity Classification System III. Vision-specific functioning scores were explored with the Visual Function scale, validated using Rasch analysis. Two hundred sixty-nine (8.5%) and 740 (23.4%) of the study participants had unilateral and bilateral cataracts, respectively, and 329 (10.4%), 800 (25.2%), and 128 (4.1%) participants had nuclear, cortical, and posterior subcapsular (PSC) cataracts, respectively. In multivariate linear regression models, the presence of bilateral rather than unilateral cataract (β = -0.12; 95% confidence interval, -0.20 to 0.00) was associated independently with poorer vision-specific functioning, even after adjusting for undercorrected refractive error (β = -0.11; 95% confidence interval, -0.21 to 0.00). Bilateral nuclear, cortical, and PSC cataracts also were associated with poorer vision-specific functioning (β = -0.31, -0.15, and -1.15, respectively), with combinations of them having even greater impact. Significantly poorer vision-specific functioning occurred at Lens Opacity Classification System grades 4 (nuclear opalescence), 5 (nuclear color), 3 (cortical), and 1 (PSC) or higher. People with bilateral but not unilateral cataracts experience difficulty with performing vision-specific daily activities independent of refractive error, with PSC cataracts and cataract combinations having the greatest impact. Cataract types cause poorer vision-specific functioning beginning at different severity grades.

A child with hyperferritinemia: Case report

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated with the risk of developing a bilateral nuclear cataract also in childhood. On the contrary, a raise of serum ferritin levels is a common finding in pediatrics. We describe here a case of HHCS that offers some interesting clues for the daily practice. Our patient is a 6 year old Italian boy who came to our attention after some time of diagnostic uncertainties because of persistently high levels of ferritin with no apparent cause. We were guided to the suspect of this syndrome by the family history (5 members with various degrees of cataract developed in first infancy). High levels of serum ferritin and specific genetic testing (mutation A37C) confirmed the diagnosis. This case underlines the need of considering rare genetic syndromes, including hereditary hyperferritinemia cataract syndrome, in the differential diagnosis of raised serum ferritin in children and the importance of paying attention to family history in considering a patient with isolated raised levels of serum ferritin.

Toric Intraocular Lens Misalignment Inducing Astigmatism After Refractive Surgery

To report the unexpected induction of astigmatism after phacoemulsification and toric intraocular lens (IOL) implantation in an eye with previous corneal refractive surgery. Case report of a 46-year-old man with bilateral nuclear cataract and previous photorefractive keratectomy. Because corneal topography identified regular corneal astigmatism at the central optical zone, phacoemulsification and implantation of a one-piece hydrophobic acrylic toric IOL were performed. Unexpected induction of astigmatism occurred in the first operated eye despite proper alignment of the IOL according to the preoperative calculations using simulated K values to determine toric IOL power and alignment. A retrospective qualitative analysis of corneal topography showed mismatching of the steepest meridian, leading to an off-axis IOL. Secondary IOL rotation improved both uncorrected and corrected distance visual acuity. Qualitative analysis of the corneal topography is mandatory during the assessment of toric IOL alignment in eyes with previous corneal refractive surgery to identify the actual location of the steepest meridian.

Paediatric cataract surgery

Bilateral congenital cataract is the most common cause of treatable childhood blindness. Nuclear cataract is usually present at birth and is non-progressive, while lamellar cataract usually develops later and is progressive. Prompt surgery has to be performed in cases with dense congenital cataract: if nystagmus has developed, the amblyopia is unfortunately irreversible. A treatment regime based on surgery within 2 months of life, combined with prompt optical correction of the aphakia and occlusion therapy with frequent follow-up, have been successful in both unilateral and bilateral cases. The surgery ought to include anterior and posterior capsulorexis in all children at the present time. Intraocular lens implantation has been safely performed below the age of 1 year and has also been successfully performed in bilateral cases. Anterior dry vitrectomy should be performed in preschool children to avoid visual axis opacification. Visual axis opacification is the most common complication found after cataract surgery in children. Secondary glaucoma is by far the most sight-threatening complication and is, unfortunately, common in the newborn so lifelong follow-up is essential in these cases.