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Eye (London, England) Aug 2021Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects)... (Review)
Review
Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional-having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.
Topics: Coloboma; Humans; Microphthalmos; Optic Disk; Retinal Detachment; Visual Acuity
PubMed: 33746210
DOI: 10.1038/s41433-021-01501-5 -
Trends in Cancer Oct 2023The microphthalmia/transcription factor E (MiT/TFE) transcription factors (TFs; TFEB, TFE3, MITF, and TFEC) play a central role in cellular catabolism and quality... (Review)
Review
The microphthalmia/transcription factor E (MiT/TFE) transcription factors (TFs; TFEB, TFE3, MITF, and TFEC) play a central role in cellular catabolism and quality control and are subject to extensive layers of regulation that influence their localization, stability, and activity. Recent studies have highlighted a broader role for these TFs in driving diverse stress-adaptation pathways, which manifest in a context- and tissue-dependent manner. Several human cancers upregulate the MiT/TFE factors to survive extreme fluctuations in nutrients, energy, and pharmacological challenges. Emerging data suggest that reduced activity of the MiT/TFE factors can also promote tumorigenesis. Here, we outline recent findings relating to novel mechanisms of regulation and activity of MiT/TFE proteins across some of the most aggressive human cancers.
Topics: Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Microphthalmia-Associated Transcription Factor; Microphthalmos; Lysosomes; Neoplasms
PubMed: 37400313
DOI: 10.1016/j.trecan.2023.06.005 -
Der Ophthalmologe : Zeitschrift Der... May 2019The term nanophthalmos refers to a clinically small eye that appears morphologically normal. A nanophthalmos is characterized by hyperopia but can also be associated... (Review)
Review
The term nanophthalmos refers to a clinically small eye that appears morphologically normal. A nanophthalmos is characterized by hyperopia but can also be associated with various secondary pathologies, such as angle-closure glaucoma. In particular, the perioperative risks associated with a nanophthalmic eye necessitate examination of the anatomical characteristics, which can result from the disproportional size of intraocular tissues despite structural normality. These include a small anterior chamber depth, scleral thickening and anomalies of the vein plexus, which are predisposing factors for the formation of angle-closure glaucoma. The resulting therapeutic challenges in the nanophthalmic eye can be countered with iridectomy, lensectomy, vitrectomy and cyclophotocoagulation. The definition, genetics and clinical findings of nanophthalmos are discussed with a focus on the complication of glaucoma and its treatment.
Topics: Glaucoma; Humans; Intraocular Pressure; Iridectomy; Microphthalmos; Vitrectomy
PubMed: 30552473
DOI: 10.1007/s00347-018-0835-5 -
Journal of Cataract and Refractive... Nov 2015
Topics: Axial Length, Eye; Cataract; Cataract Extraction; Humans; Intraoperative Complications; Lens Implantation, Intraocular; Microphthalmos; Postoperative Complications
PubMed: 26703480
DOI: 10.1016/j.jcrs.2015.10.058 -
Eye (London, England) Jul 2019To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis.
PURPOSE
To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis.
METHODS
Retrospective analysis of case series.
RESULTS
The study included cases with anophthalmia with upper eyelid deformity (one patient), microphthalmia and contralateral corectopia (one patient), microphthalmia with contralateral corneal graft (one patient), and congenital clinical anophthalmia with contralateral sclerocornea (one patient). Using techniques of embedded autologous hair and coating of adhesive pigment emulsion in the ocular prosthesis, the physical appearance of, respectively, an upper eyelid, corectopia, corneal graft, and sclerocornea was reproduced.
CONCLUSION
Tailoring the ocular prosthesis to the distinct condition of the anophthalmic socket and contralateral eye adds to the success of rehabilitative prosthetic treatment of the patient.
Topics: Adult; Aged; Anophthalmos; Eye, Artificial; Female; Humans; Infant; Male; Microphthalmos; Middle Aged; Prosthesis Design
PubMed: 30837709
DOI: 10.1038/s41433-019-0385-3 -
Indian Journal of Ophthalmology Mar 2016Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction...
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Eye Abnormalities; Foot Deformities, Congenital; Humans; Male; Microphthalmos; Syndactyly; Tooth Abnormalities; Vision, Low; Visual Acuity; Young Adult
PubMed: 27146935
DOI: 10.4103/0301-4738.180191 -
Journal of AAPOS : the Official... Aug 2020
Topics: Child; Humans; Microphthalmos
PubMed: 32861853
DOI: 10.1016/j.jaapos.2020.08.001 -
Clinical Genetics Apr 2018Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been... (Review)
Review
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state the recessive p.(Arg90Leu) mutation in the FOXE3 gene. To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with 2 different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity. Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene-based therapies.
Topics: Alleles; Aphakia; Developmental Disabilities; Eye Abnormalities; Female; Forkhead Transcription Factors; Genetic Predisposition to Disease; Humans; Male; Microphthalmos; Mutation
PubMed: 29136273
DOI: 10.1111/cge.13177 -
The British Journal of Ophthalmology Aug 2022The reason for visual impairment in patients with nanophthalmos and posterior microphthalmos is not completely understood. Therefore, this study aims to investigate...
BACKGROUND/AIMS
The reason for visual impairment in patients with nanophthalmos and posterior microphthalmos is not completely understood. Therefore, this study aims to investigate foveal structure, and the impact of demographic, clinical and imaging parameters on best-corrected visual acuity (BCVA) in these conditions.
METHODS
Sixty-two eyes of 33 patients with nanophthalmos (n=40) or posterior microphthalmos (n=22), and 114 eyes of healthy controls with high-resolution retinal imaging including spectral-domain or swept-source optical coherence tomography images were included in this cross-sectional case-control study. Foveal retinal layer thickness was determined by two independent readers. A mixed-effect model was used to perform structure-function correlations and predict the BCVA based on subject-specific variables.
RESULTS
Most patients (28/33) had altered foveal structure associated with loss of foveal avascular zone and impaired BCVA. However, widening of outer nuclear layer, lengthening of photoreceptor outer segments, normal distribution of macular pigment and presence of Henle fibres were consistently found. Apart from the presence of choroidal effusion, which had significant impact on BCVA, the features age, refractive error, axial length and retinal layer thickness at the foveal centre explained 61.7% of the variability of BCVA.
CONCLUSION
This study demonstrates that choroidal effusion, age, refractive error, axial length and retinal layer thickness are responsible for the majority of interindividual variability of BCVA as well as the morphological foveal heterogeneity in patients with nanophthalmos or posterior microphthalmos. This might give further insights into the physiology of foveal development and the process of emmetropisation, and support clinicians in the assessment of these disease entities.
Topics: Case-Control Studies; Choroidal Effusions; Cross-Sectional Studies; Fovea Centralis; Humans; Microphthalmos; Refractive Errors; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity
PubMed: 34301612
DOI: 10.1136/bjophthalmol-2020-318717 -
Nature Communications Dec 2022Microphthalmia transcription factor (MiT) family translocation renal cell carcinoma (tRCC) is a rare type of kidney cancer, which is not well characterized. Here we show...
Microphthalmia transcription factor (MiT) family translocation renal cell carcinoma (tRCC) is a rare type of kidney cancer, which is not well characterized. Here we show the comprehensive proteogenomic analysis of tRCC tumors and normal adjacent tissues to elucidate the molecular landscape of this disease. Our study reveals that defective DNA repair plays an important role in tRCC carcinogenesis and progression. Metabolic processes are markedly dysregulated at both the mRNA and protein levels. Proteomic and phosphoproteome data identify mTOR signaling pathway as a potential therapeutic target. Moreover, molecular subtyping and immune infiltration analysis characterize the inter-tumoral heterogeneity of tRCC. Multi-omic integration reveals the dysregulation of cellular processes affected by genomic alterations, including oxidative phosphorylation, autophagy, transcription factor activity, and proteasome function. This study represents a comprehensive proteogenomic analysis of tRCC, providing valuable insights into its biological mechanisms, disease diagnosis, and prognostication.
Topics: Humans; Carcinoma, Renal Cell; Proteogenomics; Transcription Factors; Microphthalmos; Proteomics; Kidney Neoplasms; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Translocation, Genetic
PubMed: 36470859
DOI: 10.1038/s41467-022-34460-w