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Indian Journal of Ophthalmology Dec 2002To describe the ocular manifestations of congenital rubella syndrome (CRS), a common cause of congenital cataracts in developing countries.
PURPOSE
To describe the ocular manifestations of congenital rubella syndrome (CRS), a common cause of congenital cataracts in developing countries.
METHODS
Retrospective analysis of case records of 46 sero-positive infants under 12 months of age who presented at Aravind Eye Hospital, Madurai between July 1993 and February 2001. The ocular and systemic examination details were recorded.
RESULTS
Both eyes were affected in 41 (89%) patients. Cataract was present in 81 (93.1%) eyes; most of them were nuclear cataract (79, 97.5%). Other common ocular presentations included microphthalmos in 74 (85.1%) eyes, iris abnormalities in 51 (58.6%) eyes, and pigmentary retinopathy in 33 (37.9%) eyes. Cataract, microphthalmos and iris hypoplasia was a common combination present in 49 (56.3%) eyes. Systemic manifestations included cardiac anomalies in 23 (50%) and neurological anomalies in 16 (34%) children. Multi-system involvement was present in 32 (70%) children. Low birth weight (below 2 kg) was seen in 30% infants.
CONCLUSION
CRS may present with a wide spectrum of ocular and systemic findings and requires a high index of suspicion for diagnosis. Any sick infant with unilateral or bilateral congenital cataract should be investigated thoroughly for CRS.
Topics: Abnormalities, Multiple; Cataract; Developing Countries; Female; Humans; India; Infant; Infant, Newborn; Iris Diseases; Male; Microphthalmos; Retrospective Studies; Rubella Syndrome, Congenital
PubMed: 12532496
DOI: No ID Found -
Case Reports in Genetics 2018Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations...
Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Herein we described a child with a de novo 19p13.3 microdeletion, proximal to the reported cases of 19p13.3 microdeletion/duplication, with ocular manifestations of bilateral ocular colobomata complicated with microphthalmos and cataract, associated with short stature. This case highlights the phenotypic heterogeneity of deletions in the 19p13.3 region.
PubMed: 29854496
DOI: 10.1155/2018/2492437 -
The British Journal of Ophthalmology May 1983We report on 2 infants, one with a bilateral and the other with a unilateral corneal metaplasia. The first case with bilateral corneal metaplasia showed shortening of...
We report on 2 infants, one with a bilateral and the other with a unilateral corneal metaplasia. The first case with bilateral corneal metaplasia showed shortening of both upper and lower lids with formation of symblephara. By ultrasonography the right eye presented with microphthalmos, aphakia, and persistent hyaloid, whereas the inner parts of the left eye appeared to be normal. The question remains to be answered whether this is an abortive cryptophthalmos leading to bilateral corneal metaplasia or a primary corneal metaplasia inhibiting the lid growth. No suggestions concerning the aetiology are made. The second case presented with a unilateral corneal metaplasia, normal eye lids, aphakia, and microphthalmos. This aberration was probably caused by an amniotic band, as it is associated with malformation of the nose on the same side. In case 2 the dermoid was excised and a lamellar corneal graft performed. The histology is reported.
Topics: Cornea; Eyelids; Female; Humans; Infant; Infant, Newborn; Male; Mesoderm; Metaplasia; Nose
PubMed: 6838805
DOI: 10.1136/bjo.67.5.320 -
Journal of the Korean Association of... Jun 2017Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that...
Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.
PubMed: 28770158
DOI: 10.5125/jkaoms.2017.43.3.171 -
Genetics in Medicine : Official Journal... Mar 2020Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense...
PURPOSE
Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity and/or specificity of PAX6 genomic interactions.
METHODS
We screened PAX6 in 372 individuals with bilateral microphthalmia, anophthalmia, or coloboma (MAC) from the Medical Research Council Human Genetics Unit eye malformation cohort (HGU) and reviewed data from the Deciphering Developmental Disorders study. We performed cluster analysis on PAX6-associated ocular phenotypes by variant type and molecular modeling of the structural impact of 86 different PAX6 causative missense variants.
RESULTS
Eight different PAX6 missense variants were identified in 17 individuals (15 families) with MAC, accounting for 4% (15/372) of our cohort. Seven altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites. We found no strong evidence for novel PAX6-associated extraocular disease.
CONCLUSION
Altering the affinity and specificity of PAX6-binding genome-wide provides a plausible mechanism for the worse-than-null effects of MAC-associated missense variants.
Topics: Adolescent; Adult; Binding Sites; Child; Child, Preschool; Cohort Studies; DNA-Binding Proteins; Eye Abnormalities; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Infant; Male; Microphthalmos; Mutation, Missense; PAX6 Transcription Factor; Pedigree; Young Adult
PubMed: 31700164
DOI: 10.1038/s41436-019-0685-9 -
American Journal of Human Genetics Jun 2014We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via...
We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. The fourth heterozygous mutation (c.145G>A [p.Glu49Lys]) affected an amino acid within two residues of Arg51 in an adult male with bilateral colobomata. In a fifth family, a homozygous mutation (c.740G>A [p.Arg247Gln]) altering a different region of the protein was identified in two male siblings with bilateral retinal colobomata. In mouse embryos, Mab21l2 showed strong expression in the developing eye, pharyngeal arches, and limb bud. As predicted by structural homology, wild-type MAB21L2 bound single-stranded RNA, whereas this activity was lost in all altered forms of the protein. MAB21L2 had no detectable nucleotidyltransferase activity in vitro, and its function remains unknown. Induced expression of wild-type MAB21L2 in human embryonic kidney 293 cells increased phospho-ERK (pERK1/2) signaling. Compared to the wild-type and p.Arg247Gln proteins, the proteins with the Glu49 and Arg51 variants had increased stability. Abnormal persistence of pERK1/2 signaling in MAB21L2-expressing cells during development is a plausible pathogenic mechanism for the heterozygous mutations. The phenotype associated with the homozygous mutation might be a consequence of complete loss of MAB21L2 RNA binding, although the cellular function of this interaction remains unknown.
Topics: Adult; Alleles; Animals; Anophthalmos; Brain Diseases, Metabolic, Inborn; Coloboma; Corneal Opacity; Exome; Eye Proteins; Female; Gene Expression; HEK293 Cells; Heterozygote; Homozygote; Humans; Intellectual Disability; Intracellular Signaling Peptides and Proteins; Male; Mice; Microcephaly; Microphthalmos; Mutation, Missense; Pedigree; Phenotype; Protein Conformation; Signal Transduction
PubMed: 24906020
DOI: 10.1016/j.ajhg.2014.05.005 -
Scientific Reports Aug 2017YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been...
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma. This variant is located in the coding region of all nine YAP1 spliceforms, and results in a frameshift and subsequent premature termination codon in each. The variant is predicted to result in the loss of part of the transactivation domain of YAP1, and sequencing of cDNA from the patient shows it does not result in nonsense mediated decay. To investigate the role of YAP1 in human eye development, we performed in situ hybridisation utilising human embryonic tissue, and observed expression in the developing eye, neural tube, brain and kidney. These findings help confirm the role of YAP1 and the Hippo developmental pathway in human eye development and its associated anomalies and demonstrate its expression during development in affected organ systems.
Topics: Adaptor Proteins, Signal Transducing; Child; Coloboma; Genotype; Humans; Male; Microphthalmos; Mutation; Phenotype; Phosphoproteins; Transcription Factors; YAP-Signaling Proteins
PubMed: 28801591
DOI: 10.1038/s41598-017-08397-w -
BMC Ophthalmology Oct 2023We report a case of uveal effusion in a nanophthalmic eye after topical use of brimonidine.
BACKGROUND
We report a case of uveal effusion in a nanophthalmic eye after topical use of brimonidine.
CASE PRESENTATION
A 42-year-old male patient with nanophthalmos experienced sudden blurred vision in the right eye after using topical brimonidine when picking up tennis balls repeatedly 6 weeks after bilateral YAG peripheral iridotomy. Ocular examination showed wide choroidal and exudative retinal detachment in the temporal and inferior region, involving the macula. Acute uveal effusion in the right, bilateral nanophthalmos was diagnosed. Oral and topical corticosteroids, combined with topical nonsteroids and atropine led to a complete resolution of the uveal effusion after one month.
CONCLUSION
This case suggested a possible causal relationship between the topical use of brimonidine and acute uveal effusion in patients with nanophthalmos. Topical brimonidine should be used with caution in nanophthalmic eyes.
Topics: Male; Humans; Adult; Microphthalmos; Brimonidine Tartrate; Choroid; Choroid Diseases; Ophthalmologic Surgical Procedures
PubMed: 37814274
DOI: 10.1186/s12886-023-03107-9 -
Orphanet Journal of Rare Diseases Apr 2014Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in...
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
BACKGROUND
Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed.
METHODS
We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed.
RESULTS
All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild.
CONCLUSIONS
Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.
Topics: Adolescent; Cataract; Child; Child, Preschool; Craniofacial Abnormalities; Czech Republic; Female; Humans; Infant; Male; Nervous System Diseases; Roma
PubMed: 24690360
DOI: 10.1186/1750-1172-9-46 -
International Medical Case Reports... 2021We are reporting a case of a 22-year-old lady with bilateral microphthalmia and microcornea, in which a modified technique for sutureless scleral fixated intraocular...
We are reporting a case of a 22-year-old lady with bilateral microphthalmia and microcornea, in which a modified technique for sutureless scleral fixated intraocular lens implantation provided a successful aphakic rehabilitation alternative with a good visual outcome and significant improvement in quality of life. Management of aphakia in microphthalmic eyes is challenging due to the anatomical abnormalities and limited literature on managing such cases. Visual rehabilitation for aphakia using contact lenses is limited by intolerance and poor lens fitting. Significant optical aberrations may limit aphakic spectacle use, further exacerbated in patients with nystagmus. Thus, secondary IOL implantation seems to be a reasonable rehabilitation alternative; however, it is surgically challenging in microphthalmic eyes.
PubMed: 34104004
DOI: 10.2147/IMCRJ.S316328