A nanoftalmia é uma condição ocular grave onde o olho é muito pequeno. Ela se caracteriza por um olho com comprimento axial (o tamanho da frente para trás) mais curto do que o normal, uma dificuldade grande para enxergar de perto (hipermetropia severa), e o cristalino (a lente natural do olho) é desproporcionalmente grande em relação ao tamanho total do olho. Além disso, pessoas com nanoftalmia têm uma alta probabilidade de desenvolver glaucoma de ângulo fechado, uma doença que eleva a pressão dentro do olho e pode afetar a visão.
Introdução
O que você precisa saber de cara
A nanoftalmia é uma condição ocular grave onde o olho é muito pequeno. Ela se caracteriza por um olho com comprimento axial (o tamanho da frente para trás) mais curto do que o normal, uma dificuldade grande para enxergar de perto (hipermetropia severa), e o cristalino (a lente natural do olho) é desproporcionalmente grande em relação ao tamanho total do olho. Além disso, pessoas com nanoftalmia têm uma alta probabilidade de desenvolver glaucoma de ângulo fechado, uma doença que eleva a pressão dentro do olho e pode afetar a visão.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 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
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by
Nucleus speckleCytoplasmNucleus
Microphthalmia, syndromic, 3
A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'
Nucleus
Microphthalmia, syndromic, 5
Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
May play a role in eye development
Apical cell membrane
Nanophthalmos 2
A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO2 inheritance is autosomal recessive.
May be involved in eye development
Nucleus
Optic disk anomalies with retinal and/or macular dystrophy
An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
Serine protease required during eye development
Microphthalmia, isolated, 6
A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone.
Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By similarity) (PubMed:27759097). High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (PubMed:27759097). Required for the biosynthesis of normal levels of retinoate in the embryonic ocula
Cytoplasm
Microphthalmia, isolated, 8
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity)
Apical cell membraneSecretedCell projection, cilium, photoreceptor outer segmentPhotoreceptor inner segment
Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances it
Cytoplasm, perinuclear regionCytoplasm
Dystonia 16
An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features.
Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1)
Cell membraneSecretedSecreted, extracellular exosomeEndoplasmic reticulum membrane
Nanophthalmos 4
A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO4 inheritance is autosomal dominant.
Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partiall
Cell membraneBasolateral cell membrane
Macular dystrophy, vitelliform, 2
An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832) Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DU
Endoplasmic reticulum membraneNucleusCytoplasm
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness.
Variantes genéticas (ClinVar)
583 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 29 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 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 — Nanoftalmia
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
17 ensaios clínicos encontrados.
Publicações mais relevantes
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
Improper light focus on the retina, refractive error, is primarily caused by eye size differences and is the leading cause of vision loss worldwide. C-terminal variants in the Myelin regulatory factor (MYRF) gene, a retinal pigment epithelium-derived (RPE-derived) transcription factor, lead to isolated nanophthalmos characterized by a small, though structurally sound eye. However, other MYRF loss-of-function variants cause syndromic disease. To address this discrepancy, in vitro and animal studies were performed on a pathogenic C-terminal variant dG-MYRF (p.Gly1126fs30*, c.3376-1G>A). Human RPE cells or primary RPE transduced with dG-MYRF showed reduced target gene expression, with decreased steady-state levels of the C-terminal cleavage product, but normal cleavage and localization. A homozygous humanized MYRF C-terminal mouse model (MyrfhumdG/humdG) was embryonic lethal by E18.5, while WT (MyrfhumWT/humWT) mice were viable. Single-cell RNA-seq from E17.5 MyrfhumdG/humdG and KO RxCre;Myrffl/fl (E15.5 and P0) mice revealed shared differentially expressed genes, with decreased effect size in the MyrfhumdG/humdG eyes. These findings support dG-MYRF as a hypomorphic allele. Additionally, 2 MYRF splicing variants creating nonfunctional isoforms were found in families with isolated nanophthalmos. Overall, hypomorphic MYRF alleles underlie isolated nanophthalmos, supporting a tissue-specific threshold effect and highlighting unique roles for the MYRF C-terminus in the RPE.
Corrigendum to "Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report [Am. J. Ophthalmol. Case Rep. (41), March 2026, 102507].
[This corrects the article DOI: 10.1016/j.ajoc.2025.102507.].
Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
Nanophthalmos presents a unique surgical challenge due to anatomical constraints and increased risk for postoperative complications. In presenting this case, our aim is to raise awareness of nanophthalmic uveal effusion syndrome (UES) and exudative retinal detachment (RD), emphasize the importance of accurate postoperative diagnosis in such cases, and challenge the prevailing notion that surgical intervention is required in such scenarios. We report a case of successful non-surgical management of UES with exudative RD following uncomplicated cataract surgery in a nanophthalmic eye. A 65-year-old monocular female with nanophthalmos (axial length 15.25mm) underwent phacoemulsification with intraocular lens implantation. Postoperatively, the patient developed cystoid macular edema, and subretinal fluid. Prominent choroidal folds and the absence of retinal breaks aided the diagnosis of UES with exudative RD. Given the complexity of this case, and the patient's monocular status, we opted for a conservative approach. A regimen of topical dexamethasone and oral acetazolamide was initiated. Clinical improvement was observed within days, with complete resolution of subretinal fluid and reattachment of the retina over the following month. Six months postoperatively, best-corrected visual acuity improved to 6/12, with maintained anatomical and functional stability at one year. This case highlights the importance of accurate postoperative assessment in nanophthalmic patients, particularly distinguishing exudative from rhegmatogenous RD. Furthermore, it underscores the potential for conservative therapy in managing UES, challenging the prevailing reliance on surgical intervention. Further research is needed to delineate criteria for medical management candidacy and optimize treatment regimens.
Multimodal imaging in nanophthalmos.
MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.
MYRF gene mutations can lead to the development of Cardio-Urogenital Syndrome (CUGS), characterized by congenital heart disease, abnormalities in the internal and external reproductive organs, and ocular anomalies. CUGS can manifest with various types of congenital heart diseases, such as Tetralogy of Fallot, Scimitar syndrome, Hypoplastic Left Heart Syndrome, Atrial Septal Defect, Ventricular Septal Defect, Dextrocardia, Aortic Arch Anomalies, and Pulmonary Vein Anomalies et al. Male patients (46,XY) may present with unilateral cryptorchidism, ambiguous genitalia, or even typical female genitalia. The most common ocular issues consistent with high myopia and nanophthalmos. To date, there have been reports of over 30 cases of MYRF gene mutations worldwide. A 5-month-old female infant was admitted to Beijing Children's Hospital affiliated with Capital Medical University due to "rapid breathing since birth." No targeted therapy was administered prior to admission despite persistent tachypnea. Four months before admission, the infant was seen at a local hospital due to abnormalities in the external reproductive organs. Chromosomal analysis revealed 46, XY, and whole exome gene testing showed a MYRF gene mutation, identified heterozygosity for de novo mutations in the MYRF gene, splice site variant, respectively, that was not found in the gnomAD database, clinically presenting as Cardio-Urogenital Syndrome (GUGS; OMIM: 618280), inherited in an autosomal dominant (AD) manner. Family history was negative. The infant's showed severely breathing progressively, leading to admission to our hospital. Electrocardiography showed pathological Q waves in leads I, avL, and V4-V6. Echocardiography revealed congenital heart disease of anomalous origin of the left coronary artery from the pulmonary artery, severe left ventricular enlargement (left ventricular end-diastolic diameter 35.2 mm), mild-to-moderate mitral regurgitation, and slightly reduced left ventricular systolic function (EF: 54%, which is just below the normal threshold 55%). Subsequent coronary angiography indicated the left coronary artery originating from the main pulmonary artery. The infant underwent further surgical treatment which confirmed the prior diagnosis and had a good postoperative recovery. This case represents an exceptionally rare instance of MYRF-CUGS combined with coronary artery anomaly. This case report enriches the clinical phenotype spectrum of CUGS caused by MYRF gene mutations and improves recognition among clinicians.
Publicações recentes
Modular surgical approach for angle-closure glaucoma secondary to nanophthalmos.
Multimodal imaging in nanophthalmos.
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
Corrigendum to "Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report [Am. J. Ophthalmol. Case Rep. (41), March 2026, 102507].
Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
📚 EuropePMC203 artigos no totalmostrando 166
Multimodal imaging in nanophthalmos.
Eye (London, England)Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
JCI insightCorrigendum to "Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report [Am. J. Ophthalmol. Case Rep. (41), March 2026, 102507].
American journal of ophthalmology case reportsMedical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
American journal of ophthalmology case reportsRefractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.
Turkish journal of ophthalmology[Progress in clinical research on nanophthalmos secondary angle-closure glaucoma].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyRisk factors for glaucoma in nanophthalmos - a systematic review and meta-analysis.
BMC ophthalmologyMembrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.
Ophthalmic geneticsSuprachoroidal Proliferative Membrane in Uveal Effusion Syndrome with Nanophthalmos: Incidental Finding During Sclerectomy.
Ocular immunology and inflammationComprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort.
Journal of medical geneticsPeripheral vitreoretinal abnormality and its correlation with malignant glaucoma in nanophthalmos with secondary angle closure glaucoma.
Eye (London, England)MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.
BMC pediatricsRetinal detachment associated to macular hole in nanophthalmos and high hyperopia.
Archivos de la Sociedad Espanola de OftalmologiaSclerectomies in nanophthalmos and idiopathic uveal effusion syndrome: a systematic review.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieHashimoto's thyroiditis and nanophthalmos in Gabriele-de Vries syndrome: a case report.
Frontiers in endocrinologyGenetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Investigative ophthalmology & visual scienceSplicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.
bioRxiv : the preprint server for biology[Recent advances in congenital nanophthalmos: a comprehensive literature review].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyMFRP is a molecular hub that organizes the apical membrane of RPE cells by engaging in interactions with specific proteins and lipids.
Proceedings of the National Academy of Sciences of the United States of AmericaMyelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development.
PLoS geneticsA biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia.
Experimental eye researchCataract Surgery in the Small Adult Eye: A Review.
Clinical & experimental ophthalmologyCataract surgery in the extremely small eye: morphology, comorbidities and outcomes in 300 eyes.
The British journal of ophthalmologyPhacoemulsification combined glaucoma surgeries in the treatment of nanophthalmos patients with secondary angle closure glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePrime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation.
Advances in experimental medicine and biologyKenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
Journal of clinical medicineMFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Clinical & experimental ophthalmologyManagement of persistent exudative retinal detachment: exploring etiology and surgical outcomes.
BMC ophthalmologyUltrawidefield Imaging of Nanophthalmos with Choroidal Congestion.
OphthalmologyClinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.
Korean journal of ophthalmology : KJONanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.
Korean journal of ophthalmology : KJOPhacoemulsification in Nanophthalmic Eye, a Way to Manage Glaucoma: Case Report.
Case reports in ophthalmological medicineBilateral Chandler Syndrome, Nanophthalmos, and Angle Closure Glaucoma: A Complex Presentation, Challenging Diagnosis, and Pathological Insight-A Case Report.
Journal of current glaucoma practiceSurgery for Esotropia in a Case of Nanophthalmos.
CureusMFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
Frontiers in geneticsMicropulse transscleral laser therapy for secondary angle-closure glaucoma in nanophthalmos: a case report.
International journal of ophthalmologyNanophthalmos-Associated MYRF gene mutation facilitates intraocular inflammation in mice.
International immunopharmacologyClinical features of patients with mutations in genes for nanophthalmos.
The British journal of ophthalmologyMyelin regulatory factor ( Myrf ) is a critical early regulator of retinal pigment epithelial development.
bioRxiv : the preprint server for biologySclerectomy Reverses Nanophthalmic Optic Neuropathy.
Case reports in ophthalmologySurgical Approaches to Serous Retinal Detachment With Retina-Lens Touch in Eyes With Nanophthalmos.
Journal of vitreoretinal diseasesInsight into small eyes: a practical description from phenotypes presentations to the management.
International journal of ophthalmologyFemtosecond LASER-Assisted Double Intraocular Lens Exchange in Nanophthalmic Eyes.
Case reports in ophthalmologyGeneration of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.
Stem cell researchTopical brimonidine induced acute uveal effusion in a patient with nanophthalmos: a case report.
BMC ophthalmologyClinical update in nanophthalmos: Features, diseases and complications associated.
Archivos de la Sociedad Espanola de OftalmologiaA unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit.
BMC ophthalmologyAnterior Scleral Thickness and Other Dimensions in Nanophthalmos by Swept-Source Optical Coherence Tomography: A Comparative Study.
Journal of clinical medicinePrimary Transscleral Diode Laser Cyclophotocoagulation for Management of Glaucoma in Nanophthalmic Eyes.
Journal of glaucomaPathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ophthalmic geneticsPhenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
Scientific reportsPosterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report.
Journal of current ophthalmologyTopiramate-Induced Aqueous Misdirection in a Nanophthalmic Eye.
CureusRetinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.
Documenta ophthalmologica. Advances in ophthalmologyMFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
Case reports in ophthalmologyClinical Outcomes of Piggybacking a One-Piece IOL With a Three-Piece IOL in Eyes With Nanophthalmos.
Journal of refractive surgery (Thorofare, N.J. : 1995)Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.
Frontiers in pediatricsClinical presentation and treatment outcomes of an algorithmic approach to uveal effusion syndrome.
Indian journal of ophthalmology[A family with nanophthalmos caused by a TMEM98 gene variant].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyTunnel-floor entry continuous curvilinear capsulorhexis technique: Rhexis in a controlled and stable anterior chamber always.
Indian journal of ophthalmologyEffect of Combined Surgery in Patients with Complex Nanophthalmos.
Journal of clinical medicineA Comparative Study on the Accuracy of IOL Calculation Formulas in Nanophthalmos and Relative Anterior Microphthalmos.
American journal of ophthalmologyMYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.
Journal of clinical medicineClinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
Current eye researchMFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.
Ophthalmic geneticsTreatment of Nanophthalmos Cataracts: Surgery and Complications.
Seminars in ophthalmologyA report on a series of nanophthalmos with histopathology and immunohistochemistry analyses using light microscopy.
Indian journal of ophthalmologyCommentary: Clinical and biometric characteristics of pediatric eyes with nanophthalmos.
Indian journal of ophthalmologyCommentary: Short eyes and bigger challenges - Growing evidence in the management of pediatric nanophthalmos.
Indian journal of ophthalmologyComparison of clinical and biometric characteristics between nanophthalmic children and age-matched controls.
Indian journal of ophthalmologyOutcomes of combined phacoemulsification, anterior vitrectomy, and sclerectomy in nanophthalmic eyes with glaucoma.
Eye (London, England)Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
The British journal of ophthalmologyDiverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
American journal of medical genetics. Part AExtensive serous ciliochoroidal detachments and macular subretinal and intraretinal fluid following laser peripheral iridotomy.
American journal of ophthalmology case reportsTreatment of Nanophthalmos-Related Uveal Effusion with Two- vs. Four-Quadrant Partial-Thickness Sclerectomy and Sclerotomy Surgery.
Turkish journal of ophthalmologyFemtosecond laser-assisted refractive lens exchange and piggyback intraocular lens implantation in nanophthalmos: A case report.
Asian journal of surgeryPrevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis.
Systematic reviewsEvaluation of MYRF as a candidate gene for primary angle closure glaucoma.
Molecular visionPhacoemulsification with double-in-bag intraocular lens implantation in nanophthalmic eyes with angle-closure glaucoma.
International ophthalmologyClinical spectrum of blunted foveal contour.
Therapeutic advances in ophthalmology[Clinical features of young inpatients with angle-closure glaucoma].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyCataract Surgery in Short Eyes, Including Nanophthalmos: Visual Outcomes, Complications and Refractive Results.
Clinical ophthalmology (Auckland, N.Z.)Rapid resolution of severe exudation in uveal effusion syndrome with anti-vascular endothelial growth factor alone in a case of bilateral nanophthalmos: a case report.
Journal of medical case reportsGlaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
Genes[Cataract surgery and the small eye: relative anterior microphthalmos, high hyperopia and nanophthalmos].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftFoveal structure and visual function in nanophthalmos and posterior microphthalmos.
The British journal of ophthalmologyNOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.
Retinal cases & brief reportsMyelin regulatory factor deficiency is associated with the retinal photoreceptor defects in mice.
Visual neuroscienceEtiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieNanophthalmos: An Update on the Biological Parameters and Fundus Abnormalities.
Journal of ophthalmologyIdentification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
PLoS geneticsNanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
Investigative ophthalmology & visual scienceMFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome.
Ophthalmic surgery, lasers & imaging retinaA novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Experimental eye researchComparing the Results of Vitrectomy and Sclerectomy in a Patient with Nanophthalmic Uveal Effusion Syndrome.
Medicina (Kaunas, Lithuania)Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Acta ophthalmologicaA comparative study on endothelial cell loss in nanophthalmic eyes undergoing cataract surgery by phacoemulsification.
Indian journal of ophthalmologyNovel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Scientific reportsFoveal structure in nanophthalmos and visual acuity.
International ophthalmologyGoniosynechialysis combined with multiple surgeries for secondary glaucoma in nanophthalmos: A case report.
European journal of ophthalmologyBilateral implantation of +56 and +58 diopter custom-made intraocular lenses in patient with extreme nanophthalmos.
American journal of ophthalmology case reportsNanophthalmos patient with a THR518MET mutation in MYRF, a case report.
BMC ophthalmologyGenotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Acta ophthalmologicaMorphological features of anterior segment: factors influencing intraocular pressure after cataract surgery in nanophthalmos.
Eye and vision (London, England)Posterior segment abnormalities in posterior microphthalmos.
American journal of ophthalmology case reportsThe Pathogenesis and Treatment of Complications in Nanophthalmos.
Journal of ophthalmologyNanophthalmos in children: morphometric and clinical characterization.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusUnusual non-nanophthalmic uveal effusion syndrome with histologically normal scleral architecture: a case report.
BMC ophthalmologyClinical spectrum and treatment outcomes of patients with nanophthalmos.
Eye (London, England)Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
Journal of ophthalmologyChoroidal vascularity index as an indicator of vascular status of choroid, in eyes with nanophthalmos.
Eye (London, England)The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
PLoS geneticsNovel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Ophthalmic geneticsThe genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Clinical geneticsThe majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Scientific reportsSpontaneous malignant glaucoma: Case report and review of the literature.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyTransscleral cyclophotocoagulation as primary management in a nanophthalmic eye with anterior uveitis and secondary mixed mechanism glaucoma.
BMJ case reportsEfficacy of toric intraocular lens implantation with high corneal astigmatism within the United Kingdom's National Health Service.
Eye (London, England)Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Molecular visionQuadrantic vortex vein decompression with subretinal fluid drainage for manangement of Nanophthalmic choroidal effusions- a review of literature and case series.
BMC ophthalmologySerous macular detachment in nanophthalmos: A manifestation of pachychoroid spectrum.
American journal of ophthalmology case reportsDetection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Investigative ophthalmology & visual scienceMissense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
Investigative ophthalmology & visual scienceAnterior Segment Features in Nanophthalmos With Secondary Chronic Angle Closure Glaucoma: An Ultrasound Biomicroscopy Study.
Investigative ophthalmology & visual scienceUnusual rapid resolution of postsclerectomy exudative retinal detachment with topical NSAIDs therapy in a case of nanophthalmos.
The Journal of international medical researchVariants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS geneticsNanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP).
Ophthalmology. RetinaExtensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion.
The British journal of ophthalmologyConsultation Section: Refractive. Unhappy patient after uneventful refractive lens exchange in nanophthalmos: March consultation #1.
Journal of cataract and refractive surgeryA new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells.
Journal of cellular physiologyFamilial Nanophthalmos Presenting with Spontaneous Uveal Effusion Syndrome.
Ocular immunology and inflammation[Glaucoma and nanophthalmos].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftAbsence of the foveal avascular zone in a nanophthalmic child revealed by optical coherence tomography angiography.
American journal of ophthalmology case reportsClinical features of posterior microphthalmic and nanophthalmic eyes.
International journal of ophthalmologyAssociation of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population.
BMC ophthalmologyThe role of corneo-scleral junction in soft contact lens fitting: Case report on nanophthalmos.
Contact lens & anterior eye : the journal of the British Contact Lens AssociationUnmeasurable small size superficial and deep foveal avascular zone in nanophthalmos: the Collaborative Nanophthalmos OCTA Study.
The British journal of ophthalmologyFoveal avascular zone area measurements with optical coherence tomography angiography in patients with nanophthalmos.
Eye (London, England)Prophylactic anterior vitrectomy during cataract surgery in eyes at increased risk for aqueous misdirection.
American journal of ophthalmology case reportsNanophthalmos: A Review of the Clinical Spectrum and Genetics.
Journal of ophthalmologyResearch progress on human genes involved in the pathogenesis of glaucoma (Review).
Molecular medicine reportsThe treatment of malignant glaucoma in nanophthalmos: a case report.
BMC ophthalmologyGenetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Clinical geneticsSuccessful recovery from misdirection syndrome in nanophthalmic eyes by performing an anterior vitrectomy through the anterior chamber.
International ophthalmologyMedical therapy for bilateral uveal effusion syndrome in nanophthalmos.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieGene Therapy Restores Mfrp and Corrects Axial Eye Length.
Scientific reportsRefractive lens exchange and piggyback intraocular lens implantation in nanophthalmos: Visual and structural outcomes.
Journal of cataract and refractive surgeryA Randomized Controlled Trial Comparing Outcomes of Cataract Surgery in Nanophthalmos With and Without Prophylactic Sclerostomy.
American journal of ophthalmologyCombined 23-G Pars Plana Vitrectomy and Lensectomy in the Management of Glaucoma Associated with Nanophthalmos.
Ophthalmic researchVascularisation of the anterior lens capsule in an eye with excellent visual acuity.
BMJ case reportsContact lenses for visual rehabilitation in Bilateral Nanophthalmos with Retinal Dystrophy- A case report.
Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPHChoroidal thickness findings in two siblings with nanophthalmos by swept source-OCT: a case report.
BMC research notesSpectrum of Angle Closure, Uveal Effusion Syndrome, and Nanophthalmos.
Journal of current glaucoma practiceScleral resection in chronic central serous chorioretinopathy complicated by exudative retinal detachment.
Eye and vision (London, England)Surgical outcomes of congenital and developmental cataracts in Japan.
Japanese journal of ophthalmologyOutcomes of Coaxial Micro-incision Phacoemulsification in Nanophthalmic Eyes: Report of Retrospective Case Series.
Eye scienceA Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy.
Ophthalmic genetics[Uveal effusion syndrome – a case study].
Klinika ocznaBESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Retina (Philadelphia, Pa.)Identification of MFRP Mutations in Chinese Families with High Hyperopia.
Optometry and vision science : official publication of the American Academy of OptometryContribution of Electronic Medical Records to the Management of Rare Diseases.
BioMed research internationalHigh-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos.
Eye (London, England)Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Molecular visionCataract surgery in patients with nanophthalmos: results and complications.
European journal of ophthalmologyRETINAL AND CHOROIDAL CHANGES OF NANOPHTHALMIC EYES WITH AND WITHOUT SECONDARY GLAUCOMA.
Retina (Philadelphia, Pa.)Nanophthalmos and hemiretinal vein occlusion: A case report.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyAssociações
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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.
- Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
- Corrigendum to "Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report [Am. J. Ophthalmol. Case Rep. (41), March 2026, 102507].
- Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
- Multimodal imaging in nanophthalmos.
- MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.
- Modular surgical approach for angle-closure glaucoma secondary to nanophthalmos.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35612(Orphanet)
- MONDO:0005514(MONDO)
- GARD:16637(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1557239(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