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Indian Journal of Ophthalmology Apr 2019Corticosteroids are known to cause many ocular and systemic side effects when administered by oral or parenteral routes. Corticosteroid induced systemic toxicity...
Corticosteroids are known to cause many ocular and systemic side effects when administered by oral or parenteral routes. Corticosteroid induced systemic toxicity secondary to topical steroid eye drops is rare. A 6-week-old, male infant was brought to our tertiary eye care center with bilateral congenital cataracts. The child underwent phacoaspiration with primary posterior capsulotomy without intraocular lens implantation in both eyes at an interval of 6 weeks. Child was initiated on topical betamethsone 0.1% eight times a day, tobramycin 0.3% six times a day, homatropine 2% twice a day, and carboxymethylcellulose 0.5% four times a day. Two and four weeks later he underwent surgical membranectomy in the right and left eye respectively followed by frequent use of topical steroids, initially given 1 hourly and then tapered weekly in the follow-up period. The patient showed increase in intraocular pressure and gain in body weight along with development of cushingoid habitus nearly 6 to 8 weeks after starting topical steroids. These side effects started weaning off following the reduction in dose of topical steroids, suggesting the role of the corticosteroid-related systemic side effects. This case highlights the serious systemic side effects secondary to increased frequency and duration of topical corticosteroid use in infancy. Hence, dosage of topical steroids should be adjusted in its therapeutic range to prevent their ocular and systemic side effects. Therefore, close monitoring is advocated for children using topical corticosteroids to prevent serious ocular and systemic side effects.
Topics: Administration, Topical; Betamethasone; Cataract; Cataract Extraction; Cushing Syndrome; Follow-Up Studies; Genetic Diseases, X-Linked; Glucocorticoids; Humans; Iatrogenic Disease; Infant; Male; Microphthalmos; Ophthalmic Solutions; Postoperative Complications
PubMed: 30900600
DOI: 10.4103/ijo.IJO_1091_18 -
International Journal of Applied &... 2021Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%-2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the...
Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%-2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the prenatal period. Here, we present an extremely rare case of D-WS associated with bilateral congenital cataracts. A 36 weeks and 6 days old male baby presented with a Dandy-Walker variant associated with bilateral congenital cataract. Ophthalmological examination revealed microphthalmos and congenital cataracts present in both eyes with sclerocornea, iris coloboma, and zone 3 retinopathy of prematurity involving only the right eye. However, the right eye was salvageable. Skull transillumination was negative with no cranial bruit. He was admitted to the neonatal intensive care unit with breathing difficulties, maintained SpO with oxygen through prongs, and noninvasive continuous positive airway pressure for 7 days. He had two episodes of hypoglycemia with hypothermia. There was no significant finding in sepsis evaluation. The abdominal ultrasonography was normal. Echocardiogram was suggestive of patent foramen ovale. Mother's torch panel tested positive for cytomegalovirus immunoglobulin G antibodies. Magnetic resonance imaging brain suggested variant D-WS with dilation of cerebellar fossa and occipital lateral ventricle horn and lack of usual corpus callus structure. Intravenous antibiotics cefotaxime and amikacin were administered along with fluid supplementation. He was shifted to mother feed. The neonate was referred to the pediatric surgery department for further management.
PubMed: 34912695
DOI: 10.4103/ijabmr.ijabmr_343_21 -
The Pan African Medical Journal 2022
Topics: Humans; Microphthalmos; Siblings; Anophthalmos
PubMed: 36523275
DOI: 10.11604/pamj.2022.43.69.35059 -
Clinical & Experimental Optometry Nov 2016The aim was to evaluate the characteristic clinical features of posterior microphthalmos.
BACKGROUND
The aim was to evaluate the characteristic clinical features of posterior microphthalmos.
METHODS
Medical records of four patients (eight eyes) between the ages of three and 31 years with posterior microphthalmos were reviewed retrospectively. Thorough ocular examinations were performed, including visual acuity, intraocular pressure, ocular alignment, axial length, cycloplegic refraction, slitlamp biomicroscopy of the anterior segment and fundus and spectral-domain optical coherent tomography (SD-OCT).
RESULTS
All subjects had presented with high hyperopia (+11.0 to +15.75 D) and retinal papillomacular folds in both eyes. They also had reduced bilateral axial length (15.55-18.61 mm), with foreshortening of the posterior segment and a relatively normal anterior segment. Papillomacular retinal folds involving the inner retinal layers and sparing the outer retinal layers, along with the absence of foveal depression, were confirmed by macular SD-OCT. In three patients, we found esodeviations associated with posterior microphthalmos and one of these required strabismic surgery. Concomitant optic nerve hypoplasia and a newly-developed neurosensory retinal detachment were found in one patient.
CONCLUSION
Posterior microphthalmos is a developmental arrest of ocular growth. In addition to high hyperopia and retinal papillomacular folds, various types of esotropia, optic disc hypoplasia and neurosensory retinal detachment may accompany posterior microphthalmos. In particular, children with posterior microphthalmos require early appropriate management of the high refractive error and resultant esotropia.
Topics: Adult; Child, Preschool; Eye Diseases, Hereditary; Female; Humans; Hyperopia; Macula Lutea; Male; Microphthalmos; Optic Disk; Retinal Diseases; Retrospective Studies; Tomography, Optical Coherence
PubMed: 27161391
DOI: 10.1111/cxo.12371 -
Journal of AAPOS : the Official... Dec 2021We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted...
We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies.
Topics: Chromosome Deletion; Cysts; DiGeorge Syndrome; Humans; Infant; Male; Microphthalmos; Orbital Diseases
PubMed: 34597781
DOI: 10.1016/j.jaapos.2021.06.001 -
International Journal of Molecular... Feb 2021EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic variants associated...
EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia (small, underdeveloped eye, ≥2 standard deviations below normal axial length). Microphthalmia arises from ocular maldevelopment with >90 monogenic causes, and can include a complex ocular phenotype. In this paper, we report two pathogenic variants in unrelated families presenting with bilateral microphthalmia and congenital cataracts. Whole genome sequencing through the 100,000 Genomes Project and cataract-related targeted gene panel testing identified autosomal dominant heterozygous mutations segregating with the disease: (i) missense c.1751C>T, p.(Pro584Leu) and (ii) splice site c.2826-9G>A. To functionally validate pathogenicity, morpholino knockdown of / in zebrafish resulted in significantly reduced eye size ± cataract formation. Misexpression of N-cadherin and retained fibre cell nuclei were observed in the developing lens of the knockdown morphant fish by 3 days post-fertilisation, which indicated a putative mechanism for microphthalmia pathogenesis through disruption of cadherin-mediated adherens junctions, preventing lens maturation and the critical signals stimulating eye growth. This study demonstrates a novel association of with microphthalmia, suggesting further analysis of pathogenic variants in unsolved microphthalmia cohorts may increase molecular diagnostic rates.
Topics: Adolescent; Adult; Alternative Splicing; Animals; Cataract; Child; Embryo, Nonmammalian; Ephrin-A2; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Microphthalmos; Middle Aged; Morpholinos; Mutation, Missense; Oligonucleotides, Antisense; Pedigree; Receptor, EphA2; Zebrafish; Zebrafish Proteins
PubMed: 33671840
DOI: 10.3390/ijms22042190 -
BMC Ophthalmology Sep 2023Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative...
BACKGROUND
Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos.
CASE PRESENTATION
A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye.
CONCLUSION
This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
Topics: Female; Humans; Middle Aged; Microphthalmos; Optic Disk; Glaucoma, Angle-Closure; Macular Edema; Eye Abnormalities; Retinitis Pigmentosa; Membrane Proteins
PubMed: 37752465
DOI: 10.1186/s12886-023-03132-8 -
European Journal of Human Genetics :... Apr 2016Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly...
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by whole-exome sequencing. Analysis of 83 known A/M factors identified pathogenic/likely pathogenic variants in PAX6, OTX2 and NDP in three patients. A novel heterozygous likely pathogenic variant in PAX6, c.767T>C, p.(Val256Ala), was identified in two brothers with bilateral microphthalmia, coloboma, primary aphakia, iris hypoplasia, sclerocornea and congenital glaucoma; the unaffected mother appears to be a mosaic carrier. While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M. A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified. Pathogenic/likely pathogenic variants were not discovered in the 25 remaining A/M cases. This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions.
Topics: Adolescent; Adult; Anophthalmos; Child; Coloboma; Exome; Eye Proteins; Female; Heterozygote; Humans; Male; Microphthalmos; Mutation; Nerve Tissue Proteins; Otx Transcription Factors; PAX6 Transcription Factor
PubMed: 26130484
DOI: 10.1038/ejhg.2015.155 -
Journal of Medical Genetics Sep 1994Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an...
Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted. We describe a large pedigree with 14 persons in four generations affected with bilateral microphthalmos without other ocular or systemic signs. An autosomal dominant trait with complete penetrance is proposed. Five subjects underwent a complete ophthalmological evaluation. The total axial length was measured by A scan ultrasonography in all persons. Ultrasonography showed a reduction of the total axial length (range 18.4-19.7 mm) and a reduced vitreous cavity length (range 11.4-13.5 mm) in all investigated patients. All the patients had microcornea (range 8-9.7 mm). No other ocular anomalies or associated systemic malformations were found. A review of published reports also suggests that simple, partial, posterior, pure microphthalmos and nanophthalmos are similar clinical entities sharing total axial length and vitreous cavity length reduction. Therefore, the term simple microphthalmos is proposed to identify these clinical conditions.
Topics: Adult; Aged; Child; Female; Genes, Dominant; Humans; Male; Microphthalmos; Middle Aged; Pedigree
PubMed: 7815444
DOI: 10.1136/jmg.31.9.721 -
Molecular Genetics & Genomic Medicine Sep 2020Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid...
BACKGROUND
Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports.
METHODS
A comprehensive genotyping examination including copy number variation sequencing (CNV-Seq) and whole-exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non-compaction (LVNC).
RESULTS
No aneuploidy or pathogenic CNV were identified by CNV-seq. WES analysis revealed a previously reported homozygous splice site (NM_022369.4:c.113+3_113+4del) in the STRA6 gene. This variant was confirmed by Sanger sequencing. The diagnosis of MCOPS9 was confirmed given the identification of the STRA6 mutation and the association of bilateral anophthalmia, pulmonary agenesis, and cardiac malformations.
CONCLUSION
This case adds to the phenotypic spectrum of MCOPS9, supporting the association with LVNC, and the presence of interruption of aortic arch further demonstrates the variability of the cardiac malformations.
Topics: Adult; Anophthalmos; Female; Fetal Diseases; Humans; Isolated Noncompaction of the Ventricular Myocardium; Lung Diseases; Membrane Proteins; Microphthalmos; Phenotype; Pregnancy; Syndrome
PubMed: 32597569
DOI: 10.1002/mgg3.1377