Acute juvenile cataract in newly diagnosed type 1 diabetic patients: a description of six cases

Iafusco, Dario; Prisco, Francesco; Romano, Mario R.; dell’Omo, Roberto; Libondi, Teodosio; Costagliola, Ciro

doi:10.1111/j.1399-5448.2010.00749.x

Cited by 14 publications

(16 citation statements)

References 41 publications

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“…More recent data from Iafusco et al found 6 cases of cataracts in a cohort of 826 children with antibody‐mediated type 1 diabetes, the youngest of which being a 5.5‐yr‐old male. All patients presented in severe diabetic ketoacidosis and had a mean duration of diabetes symptoms of 3.75 months (range 2.5–6 months) . Our patient reported symptoms of diabetes for several years and did not present with ketosis, suggesting a more gradual destruction of beta cells with some preservation of insulin secretion.…”

Section: Discussionmentioning

confidence: 62%

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Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a knownINSgene mutation

et al. 2015

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The prevalence of diabetes-related cataracts during childhood is less than 1%. When cataracts occur, it is often in adolescent females with prolonged symptoms and significant hyperglycemia. Cataracts are not a classic feature of monogenic diabetes. We report a case of a six year old previously healthy Caucasian male who presented with bilateral acquired cataracts and was subsequently diagnosed with new onset diabetes. Additional symptoms at presentation included a several year history of polyuria and polydipsia, mild hepatomegaly, and short stature. Pertinent negatives include acanthosis nigricans, lipoatrophy, deafness, muscle weakness, or neuropathy. HbA1c was significantly elevated at diagnosis (>14%, 129.5mmol/mol) without evidence of ketosis. Autoantibody testing was negative. Features of Mauriac Syndrome (short stature, hepatomegaly) as well as acquired cataracts indicated long standing hyperglycemia with sufficient insulin production to prevent ketone production and development of diabetic ketoacidosis. Whole exome sequencing was conducted and a de novo heterozygous mutation in the INS gene (c.94G>A; p.Gly32Ser) was identified. INS gene mutations are common causes of permanent neonatal diabetes but rare causes of antibody-negative diabetes in children. Importantly, INS gene mutations have not been previous associated with acquired cataracts. Knowledge of a monogenic cause of diabetes allows clinicians to tailor counseling and screening of diabetes related co-morbidities. In summary, this case highlights the need to consider testing for monogenic diabetes, specifically INS gene mutations, in pediatric patients with antibody-negative diabetes, especially if complications of prolonged hyperglycemia are present at diagnosis.

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Section: Discussionmentioning

confidence: 62%

“…Although cataracts are a complication of longstanding hyperglycemia, cataracts in children with diabetes are uncommon with a prevalence of less than 1% (1,2). It is rarer still for cataracts to be present at the initial presentation of diabetes in children.…”

mentioning

confidence: 99%

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a knownINSgene mutation

et al. 2015

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“…Detailed questioning revealed a short-term history of diabetic-type symptoms. In their small case series, Iafusco et al 6 describe the onset of acute cataract in 6 young patients in whom type 1 diabetes had been diagnosed. The patients were seen for symptoms related to severe ketoacidosis.…”

Section: Discussionmentioning

confidence: 96%

“…3 Acute-onset diabetic cataracts rarely appear among DM patients, with an estimated incidence of less than 1%. 4 Cases have been reported sporadically [5][6][7][8] and have occurred in patients previously diagnosed with types 1 and 2 DM. Taskapili et al 5 report a case of a young girl with acute cataracts as an initial presentation of DM.…”

Section: Discussionmentioning

confidence: 97%

Acute-onset cataract as the initial presentation of diabetes mellitus

Tenen¹,

Hodge²

2012

Journal of Cataract and Refractive Surgery

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“…Even though the majority of newly diagnosed pediatric patients with T1DM have aforementioned symptoms, only a small number of patients develop early diabetic cataract [ 16 ]. This observation certainly underlines the importance of other factors that influence the occurrence of early diabetic cataract including genetics, local factors, nutritional habits, and gender as well as growth and developmental changes in childhood [ 5 , 15 ].…”

Section: Pathophysiology Of Early Diabetic Cataract In Population mentioning

confidence: 99%

Cataract as Early Ocular Complication in Children and Adolescents with Type 1 Diabetes Mellitus

Šimunović

Paradžik

Skrabic

et al. 2018

International Journal of Endocrinology

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Cataract is a rare manifestation of ocular complication at an early phase of T1DM in the pediatric population. The pathophysiological mechanism of early diabetic cataract has not been fully understood; however, there are many theories about the possible etiology including osmotic damage, polyol pathway, and oxidative stress. The prevalence of early diabetic cataract in the population varies between 0.7 and 3.4% of children and adolescents with T1DM. The occurrence of diabetic cataract in most pediatric patients is the first sign of T1DM or occurs within 6 months of diagnosis of T1DM. Today, there are many experimental therapies for the treatment of diabetic cataract, but cataract surgery continues to be a gold standard in the treatment of diabetic cataract. Since the cataract is the leading cause of visual impairment in patients with T1DM, diabetic cataract requires an initial screening as well as continuous surveillance as a measure of prevention and this should be included in the guidelines of pediatric diabetes societies.

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Acute juvenile cataract in newly diagnosed type 1 diabetic patients: a description of six cases

Cited by 14 publications

References 41 publications

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a knownINSgene mutation

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a knownINSgene mutation

Acute-onset cataract as the initial presentation of diabetes mellitus

Cataract as Early Ocular Complication in Children and Adolescents with Type 1 Diabetes Mellitus

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