A catarata cerúlea é um tipo de catarata congênita (presente desde o nascimento) e hereditária (passada de pais para filhos). Ela é caracterizada por manchas azuladas e esbranquiçadas (opacificações) nas camadas mais superficiais da parte central da lente do olho, que podem ser vistas tanto no período fetal quanto na vida adulta. Essa condição causa uma diminuição da nitidez da visão durante a infância, exigindo, com o tempo, uma cirurgia para remover a lente afetada.
Introdução
O que você precisa saber de cara
A catarata cerúlea é um tipo de catarata congênita (presente desde o nascimento) e hereditária (passada de pais para filhos). Ela é caracterizada por manchas azuladas e esbranquiçadas (opacificações) nas camadas mais superficiais da parte central da lente do olho, que podem ser vistas tanto no período fetal quanto na vida adulta. Essa condição causa uma diminuição da nitidez da visão durante a infância, exigindo, com o tempo, uma cirurgia para remover a lente afetada.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 3 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição.
Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promote
Nucleus
Crystallins are the dominant structural components of the vertebrate eye lens
Cataract 4, multiple types
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract.
Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:11001937, PubMed:24120416). Specifically expressed in lens fiber cells, this aquaporin is crucial for maintaining lens water homeostasis and transparency. Beyond water permeability, it also acts as a cell-to-cell adhesion molecule, forming thin junctions between lens fiber cells that are essential for maintaining the ordere
Cell membraneCell junction
Cataract 15, multiple types
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others.
Crystallins are the dominant structural components of the vertebrate eye lens
Cataract 3, multiple types
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects.
Variantes genéticas (ClinVar)
134 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Catarata cerúlea
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.
Down syndrome (DS) is the most common chromosomal disorder in humans. DS is associated with increased prevalence of several ocular sequelae, including characteristic blue-dot cerulean cataract. DS is accompanied by age-dependent accumulation of Alzheimer's disease (AD) amyloid-β (Aβ) peptides and amyloid pathology in the brain and comorbid early-onset Aβ amyloidopathy and colocalizing cataracts in the lens. Quasi-elastic light scattering (QLS) is an established optical technique that noninvasively measures changes in protein size distributions in the human lens in vivo. In this cross-sectional study, lenticular QLS correlation time was decreased in adolescent subjects with DS compared to age-matched control subjects. Clinical QLS was consistent with alterations in relative particle hydrodynamic radius in lenses of adolescents with DS. These correlative results suggest that noninvasive QLS can be used to evaluate molecular changes in the lenses of individuals with DS.
[Cerulean cataract].
Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.
The aim of this study is to describe the clinical profile, pedigree charting, and management of children with familial cataracts at a child eye health tertiary facility in southwest Nigeria. The clinical records of children ≤16 years diagnosed with familial cataracts at the Pediatric Ophthalmology Clinic, University College Hospital Ibadan (Ibadan, Nigeria) from January 1, 2015, to December 31, 2019, were retrospectively reviewed. Information on demographic data, family history, visual acuity, mean refractive error (spherical equivalent), and surgical management was retrieved. The study included 38 participants with familial cataract. The mean age at presentation was 6.30 ± 3.68 years, with a range of 7 months to 13 years. Twenty-five patients (65.8%) were male. All patients had bilateral involvement. The mean duration from onset of symptoms to presentation at the hospital was 3.71 ± 3.20 years, with a range of 3 months to 13 years. In 16 of the 17 pedigree charts obtained, at least one individual was affected in each generation. The most common cataract morphology was cerulean cataract, observed in 21 eyes (27.6%). The most common ocular comorbidity was nystagmus which was observed in seven patients (18.4%). Sixty-seven eyes of 35 children underwent surgery within the period of the study. The proportion of eyes that had best-corrected visual acuity ≥6 / 18 before surgery was 9.1%; this proportion had increased to 52.7% at the last postoperative visit. Autosomal dominant inheritance appears to be the major pattern among our patients with familial cataract. The most common morphological type found in this cohort was cerulean cataract. Genetic testing and counseling services are vital for the management of families with childhood cataract.
Corneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation.
Down's syndrome or trisomy 21 is a genetic disorder caused by presence of all or a part of a third copy of chromosome 21. Keratoconus occurs in up to 15% of the adult population with Down's syndrome. There is a close consortium between trisomy 21 and keratoconus (a conical ectatic protrusion of the cornea), and children with Down's syndrome are also susceptible to developing thyroid disease, including hypothyroidism and thyrotoxicosis with exophthalmos. The authors describe a case report on acute corneal hydrops with congenital cerulean cataract in a patient with Down's syndrome with hypothyroidism having bilateral advanced keratoconus. As per the detailed literature review, this is the first case of Down's syndrome with hypothyroidism presenting with acute corneal hydrops.
Cerulean cataract.
Publicações recentes
Hereditary cataract associated with a novel variant in WFS1.
🥉 Relato de casoIn vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.
Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.
🥉 Relato de caso📚 EuropePMC19 artigos no totalmostrando 10
In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.
Experimental eye researchFamilial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.
Korean journal of ophthalmology : KJOCorneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation.
GMS ophthalmology cases[Congenital cerulean cataract].
Journal francais d'ophtalmologieRare Coexistence of Bilateral Congenital Sutural and Cortical Blue Dot Cataracts.
Journal of pediatric ophthalmology and strabismusMulticoloured lenticular opacities in a case of cerulean cataract.
BMJ case reports[A case of congenital cerulean cataract].
Journal francais d'ophtalmologie[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.
Journal of the Formosan Medical Association = Taiwan yi zhiWhole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.
Molecular syndromologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.
- [Cerulean cataract].
- Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.
- Corneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation.
- Cerulean cataract.
- Hereditary cataract associated with a novel variant in WFS1.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98989(Orphanet)
- MONDO:0020374(MONDO)
- GARD:9508(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014422(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
