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The British Journal of Ophthalmology Sep 1967
Topics: Child; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Humans; Iris; Microphthalmos; Myopia; Pedigree
PubMed: 4963695
DOI: 10.1136/bjo.51.9.627 -
American Journal of Medical Genetics.... Jan 2022SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of...
SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Thirty-seven patients were identified, ranging in age from infant to 30 years old. Eye anomalies were bilateral in 30 patients (81.1%), unilateral in 5 (13.5%), and absent in 2 (5.4%). Intellectual disability was present in all with data available and ranged from mild to profound. Seizures were noted in 18 of 27 (66.6%) patients, usually with abnormal brain MRIs (10/15, 66.7%). Growth issues were reported in 14 of 21 patients (66.7%) and 14 of 19 (73.7%) had gonadotropin deficiency. Genitourinary anomalies were seen in 15 of 19 (78.9%) male patients and 5 of 15 (33.3%) female patients. Patients with SOX2 nucleotide variants, whole gene deletions or translocations are typically affected with bilateral or unilateral microphthalmia and anophthalmia. Other associated features include intellectual disability, seizures, brain anomalies, growth hormone deficiency, gonadotropin deficiency, and genitourinary anomalies. Recommendations for newly diagnosed patients with SOX2 variants include eye exams, MRI of the brain and orbits, endocrine and neurology examinations. Since the clinical spectrum associated with SOX2 alleles has expanded beyond the originally reported phenotypes, we propose a broader term, SOX2-associated disorder, for this condition.
Topics: Anophthalmos; DNA; Female; Humans; Male; Microphthalmos; Registries; SOXB1 Transcription Factors
PubMed: 34562068
DOI: 10.1002/ajmg.a.62518 -
Molecular Genetics & Genomic Medicine Jun 2022Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and...
BACKGROUND
Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the patients indicating potential broad phenotypic spectrum.
METHODS
The present case was a 6-month-old male at diagnosis. The patient exhibited long philtrum, large ears, bilateral ptosis, and nystagmus. Ophthalmic tests showed that he had microcornea, iris and choroidal coloboma. The patient presented with global developmental delay (GDD). Trio-whole exome sequencing and genome copy number sequencing were conducted to explore the disease-causing mutations.
RESULTS
Exome sequencing and genome copy number sequencing showed the presence of L1471F and E661G compound mutations in TENM3, which were inherited from the mother and father, respectively. Sanger sequencing was conducted to verify association of the mutations with the disease in the present family.
CONCLUSION
Two TENM3 variants were identified in a patient with Syndromic microphthalmia 15 in the present study. However, further studies should be conducted to explore the pathogenicity of the variants.
Topics: China; Coloboma; Eye Abnormalities; Humans; Infant; Iris; Male; Membrane Proteins; Microphthalmos; Nerve Tissue Proteins
PubMed: 35397152
DOI: 10.1002/mgg3.1948 -
GMS Ophthalmology Cases 2020Primary hyperplastic persistent vitreous (PHPV) or persistent fetal vasculature is a rare clinical entity that presents with leucocoria, microphthalmos, and cataract. It...
Primary hyperplastic persistent vitreous (PHPV) or persistent fetal vasculature is a rare clinical entity that presents with leucocoria, microphthalmos, and cataract. It is mostly unilateral. Here we present a report of two cases of bilateral PHPV. One of the patients had associated Peters' anomaly. The entity closely mimics retinoblastoma and should be kept as a differential diagnosis of bilateral leucocoria. Examination under anesthesia, ultrasound B-scan, and aqueous lactate dehydrogenase levels helped us reach the diagnosis and differentiate it from the more serious entity retinoblastoma.
PubMed: 33214982
DOI: 10.3205/oc000169 -
The American Journal of Case Reports Jan 2021BACKGROUND Massive retinal gliosis (MRG) is a rare benign intraocular tumor that results from the proliferation of well-differentiated glial cells in response to...
BACKGROUND Massive retinal gliosis (MRG) is a rare benign intraocular tumor that results from the proliferation of well-differentiated glial cells in response to long-standing pathological processes, including glaucoma, trauma, chronic inflammation, vascular disorders, and congenital anomalies. This lesion is considered to be nonneoplastic and occurs ≥10 years after the predisposing insult. It usually affects children and can mimic other conditions, including uveal melanomas, vasoproliferative tumors of the retina, astrocytic hamartomas, and retinal hemangioblastomas. CASE REPORT We present a case of infant MRG with severe left eye microphthalmia. An 11-month-old boy was presented by his parents in the Oculoplastic Unit of a teaching university hospital with bilateral incomplete cryptophthalmos and small globes. An enucleation of the left globe was carried out to stimulate orbital bone growth and to improve the cosmetic outcome. The histopathological examination revealed a microphthalmic globe with sclerocornea and disorganized intraocular anterior segment structures. The retina was dysplastic with proliferating spindle-shaped glial cells showing fibrillar eosinophilic cytoplasm and filled most of the vitreous cavity. The glial origin of the cells was confirmed by the immunohistochemical markers (glial fibrillary acidic protein and synaptophysin), supporting the diagnosis of MRG. The optic nerve was markedly hypoplastic. CONCLUSIONS MRG is a rare intraocular tumor that is clinically difficult to diagnose. A definite diagnosis can be made only on the basis of a histopathological examination and immunohistochemical markers.
Topics: Child; Glial Fibrillary Acidic Protein; Gliosis; Humans; Infant; Male; Microphthalmos; Retina; Retinal Diseases
PubMed: 33497371
DOI: 10.12659/AJCR.929363 -
The Canadian Veterinary Journal = La... Feb 2013
Topics: Animals; Dog Diseases; Male; Microphthalmos
PubMed: 23904628
DOI: No ID Found -
Journal of the American Veterinary... Feb 2018CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral...
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident. TREATMENT AND OUTCOME Transpalpebral enucleation was performed bilaterally. Histologic examination of ocular tissues confirmed the corneal dermoids and microphthalmia with anterior and posterior segment dysgenesis and cataracts in both eyes. Ocular discomfort resolved after postoperative recovery, and follow-up revealed that the patient's activity level and quality of life were excellent. No clinical signs of upper respiratory, urinary, or gastrointestinal tract disease were observed during the approximately 3.5-year follow-up period. CLINICAL RELEVANCE The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome, and the outcome of treatment was favorable. This report may prompt clinicians to consider this diagnosis when evaluating young cats with similar clinical signs.
Topics: Animals; Cat Diseases; Cats; Choristoma; Corneal Diseases; Diagnosis, Differential; Eye Enucleation; Female; Goldenhar Syndrome; Growth Disorders; Kidney; Microphthalmos; Tomography, X-Ray Computed
PubMed: 29346049
DOI: 10.2460/javma.252.3.324 -
BMC Pediatrics May 2022A thorough examination (especially those including visual functional evaluation) is very important in children's eye-development during clinical practice, when they...
BACKGROUND
A thorough examination (especially those including visual functional evaluation) is very important in children's eye-development during clinical practice, when they encountered with unusual excessive hyperopia especially accompanied with other possible complications. Genetic testing would be beneficial for early differential diagnosis as blood sampling is more convenient than all other structural imaging capture tests or functional tests which need children to cooperate well. Thus genetic testing helps us to filter other possible multi-systemic diseases in children patients with eye disorder.
CASE PRESENTATION
A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (≥+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated posterior microphthalmos (MCOP6), respectively.
CONCLUSIONS
This report demonstrates the importance of genetic diagnosis before a clinical consult. When children are too young to cooperate with examinations, genetic testing is valuable for predicting other systemic diseases and eye-related development and for implementing early interventions for the disease.
Topics: Child; Exotropia; Genetic Testing; Humans; Hyperopia; Male; Microphthalmos
PubMed: 35610621
DOI: 10.1186/s12887-021-02992-7 -
Posterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report.Journal of Current Ophthalmology 2022To describe a particular form of posterior microphthalmos pigmentary retinopathy syndrome (PMPRS) with an atypical clinical presentation of pigment retinal dystrophy and...
PURPOSE
To describe a particular form of posterior microphthalmos pigmentary retinopathy syndrome (PMPRS) with an atypical clinical presentation of pigment retinal dystrophy and an association to an inconstant complication which is angle-closure glaucoma (ACG).
METHODS
A 40-year-old male patient with ACG on maximal topical treatment was referred to our department for uncontrolled intraocular pressure. Best-corrected visual acuity was 2/10 in the right eye and light perception in the left eye. Intraocular pressure was 36 mmHg bilaterally. He had 360° peripheral anterior synechiae on gonioscopy. Fundus examination revealed total cupping with pale retinal lesions in both eyes and a few pigment deposits in the midperiphery of the right eye. Multimodal imaging was done.
RESULTS
Fundus autofluorescence revealed patchy areas of hypoautofluorescence. Optical coherence tomography (OCT) showed bilateral foveoschisis and macular folds. Anterior segment OCT showed a circumferential iridocorneal angle closure. Axial length measured with ultrasound biomicroscopy was 18.4 mm in the right eye and 18.1 in the left eye. Electroretinogram revealed attenuated scotopic responses. The patient was diagnosed with nanophthalmos-retinitis pigmentosa (RP)-foveoschisis syndrome complicated with ACG. A combined surgery with phacoemulsification - anterior vitrectomy - intraocular lens implantation and trabeculectomy was performed in both eyes with a satisfactory outcome.
CONCLUSIONS
In its typical forms, PMPR syndrome is an association of nanophthalmos - RP - foveoschisis and optic nerve head (ONH) drusen. Incomplete phenotypes may lack ONH drusen or foveoschisis. Patients with PMPRS have to be screened for iridocorneal angle synechia and ACG.
PubMed: 37180538
DOI: 10.4103/joco.joco_145_22 -
Human Molecular Genetics Aug 2013The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6,...
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.
Topics: Aldehyde Oxidoreductases; Animals; Anophthalmos; Child; Child, Preschool; Codon, Nonsense; Exome; Eye; Female; Genome; Homozygote; Humans; Infant; Larva; Male; Microphthalmos; Optic Chiasm; Optic Nerve; Sequence Analysis, DNA; Sequence Analysis, RNA; Zebrafish
PubMed: 23591992
DOI: 10.1093/hmg/ddt179