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American Journal of Ophthalmology Case... Jun 2024To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent...
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with -associated oculo-facio-cardio-dental (OFCD) syndrome.
PURPOSE
To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
OBSERVATIONS
A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
CONCLUSIONS AND IMPORTANCE
This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
PubMed: 38699441
DOI: 10.1016/j.ajoc.2024.102060 -
International Journal of Ophthalmology 2024This narrative review aimed to have an algorithmic approach to microphthalmos by a systematic search. The definition can be related to a number of special phenotypes. In... (Review)
Review
This narrative review aimed to have an algorithmic approach to microphthalmos by a systematic search. The definition can be related to a number of special phenotypes. In the more challenging cases of complex microphthalmos, relative anterior microphthalmos, and nanophthalmos, the surgeon can approach these cases more safely if they have a deep understanding of the anatomical variations and ideal formulae for intraocular lens computation and knows how to avoid intra- and post-operative complications. In this article, we review the criteria by which we recognize and describe pre-, intra-, and post-operative considerations, as well as discuss the ideal intraocular lenses for microphthalmos, given the intricate varieties of small eye phenotypes.
PubMed: 38371260
DOI: 10.18240/ijo.2024.02.23 -
Taiwan Journal of Ophthalmology 2023Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor...
Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes or . Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene . This report describes the case of a boy with -related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.
PubMed: 38249507
DOI: 10.4103/tjo.TJO-D-23-00034 -
Cureus Jul 2023An abnormally drooping upper eyelid in comparison with the normal position in primary gaze refers to ptosis. Levator resection should be the procedure of choice in...
INTRODUCTION
An abnormally drooping upper eyelid in comparison with the normal position in primary gaze refers to ptosis. Levator resection should be the procedure of choice in patients with moderate to severe ptosis and a good levator function.
METHODS
In this retrospective study, we analysed the surgical outcomes after large and maximal levator resection in patients with moderate and severe ptosis with a good levator function and Bell's phenomenon. All patients had a good levator function; therefore, levator resection was the procedure of choice. We performed levator resection of 20 mm and above and the desired post-operative correction was achieved.
RESULTS
One patient had microcornea, and hence, he was undercorrected and his post-operative marginal reflex distance 1 (MRD 1) was 3 mm. Two patients who had severe ptosis pre-operatively had a post-operative MRD 1 of 3 mm. Rest of the patients had a post-operative MRD 1 of 4 mm.
CONCLUSION
Levator resection of 20 mm or more should be performed in patients with congenital simple ptosis with a good levator function and Bell's phenomenon to achieve a favourable post-operative outcome.
PubMed: 37602063
DOI: 10.7759/cureus.42136 -
Journal of Pediatric Genetics Sep 2023Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2,... (Review)
Review
Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelated WARBM syndrome patients who had an RAB3GAP1 c.559 C > T, (p.Arg187Ter) and c.520 C > T (p.Arg174Ter) homozygous state. Both patients had microcephaly, microphthalmia, microcornea, bilateral congenital cataracts, severe intellectual disability, and congenital hypotonia. Using the method of next-generation sequencing and sanger sequencing, we found two nonsense variations at the splice site in exon 7 of RAB3GAP1 in the WARBM syndrome patients. The mutations were predicted to cause the syndrome due to the early stop codon, and the patients had the WARBM1 syndrome. We present the first clinical report of two different unreported variants with RAB3GAP1 mutation in the literature.
PubMed: 37575647
DOI: 10.1055/s-0043-1768693 -
BMC Ophthalmology Aug 2023According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes....
BACKGROUND
According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree.
METHODS
Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations. Whole-exome sequencing (WES) and bioinformatics analysis were conducted in eight members from this pedigree to identify the causative mutation.
RESULTS
WES revealed a novel heterozygous substitution of PAX6 (NM_000280.5:c.157G > A, p.(Val53Met) (chr11:31823309 C > T, hg19)), which cosegregated with the phenotype of this pedigree. All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distribution of fundus blood vessels. The girl of the fraternal twins also demonstrated bilateral temporal deviation of lenses and abnormal tissue membrane connecting anterior chamber angle and lens anterior capsule in the right eye. The mother additionally showed apparent cataract bilaterally and cupping of the optic disc in her left eye.
CONCLUSION
A novel missense variant in PAX6 gene was detected in a Chinese pedigree demonstrating bilateral FH and ASD. It is really distinctive that the ASD involves almost all parts of the anterior segment, and bilateral symmetrical corectopia is the most perceptible sign. This study expands the phenotypic and genotypic spectrum of PAX6-associated ocular diseases, and facilitates the understanding of the crucial role that PAX6 plays in the development of the eye. Meanwhile, PAX6 could be considered as a candidate pathogenic gene of bilateral symmetrical corectopia.
Topics: Female; Humans; PAX6 Transcription Factor; Homeodomain Proteins; Genotype; Phenotype; Mutation; Pedigree; Eye Proteins; Aniridia
PubMed: 37553561
DOI: 10.1186/s12886-023-03054-5 -
Clinical Ophthalmology (Auckland, N.Z.) 2023Secondary glaucoma following childhood cataract surgery remains the most common complication in the paediatric population. This study aimed to determine the incidence,...
PURPOSE
Secondary glaucoma following childhood cataract surgery remains the most common complication in the paediatric population. This study aimed to determine the incidence, time to progression and risk factors associated with the development of secondary glaucoma following childhood cataract surgery in a paediatric population. Outcome measures were the detection of secondary glaucoma, postoperative time frame to development of glaucoma and risk factors in its development.
PATIENTS AND METHODS
A retrospective case series was conducted between 2003 and 2017 at a tertiary children's hospital in Sydney. The patient population included those 16 years or less of age who underwent congenital cataract extraction, with or without an intraocular lens implantation and who had been followed up for a minimum of six months following surgery. Patients were excluded if they had cataract aetiology other than congenital idiopathic cataract. Multivariate Cox Regression analysis was used to determine relevant risk factors.
RESULTS
A total of 320 eyes in 216 patients were included in the study. Secondary glaucoma developed in 11.9% of eyes. In those that developed secondary glaucoma, the average time to onset from surgery was 3.2 years (median 2.75 years). The mean age of diagnosis of secondary glaucoma was 4.58 years (median 3.5 years, range 2.5 months to 13.23 years). Microcornea was the only adverse characteristic significantly associated with an increased risk of secondary glaucoma (HR 6.30, p 0.003).
CONCLUSION
Despite modern surgical techniques, glaucoma remains a significant long-term sequela in children following cataract surgery.
PubMed: 37547173
DOI: 10.2147/OPTH.S400512 -
Cureus May 2023Congenital rubella syndrome (CRS) may affect all ocular structures in general, either in isolation or in combination. Typical ocular complications in CRS include...
Congenital rubella syndrome (CRS) may affect all ocular structures in general, either in isolation or in combination. Typical ocular complications in CRS include cataracts, microcornea, microphthalmia, glaucoma, nystagmus, and retinopathy. We report a case of a four-year-old girl who presented with bilateral total cataracts with sensory nystagmus, a poorly dilating pupil, iris hypoplasia, high axial myopia in the right eye (RE), and a retinal detachment in the left eye (LE). The systemic evaluation revealed microcephaly with an associated patent ductus arteriosus (PDA) and mild pulmonary arterial hypertension (PAH). Based on these findings, the child was diagnosed with clinically confirmed CRS. The child was taken up for right-eye cataract surgery. Intra-operatively, a lens coloboma involving the temporal equator of the lens along with a highly tessellated fundus was noted. Two weeks post-cataract surgery, the child had a best corrected visual acuity (BCVA) of 6/24. However, four weeks after the surgery, the child developed total rhegmatogenous retinal detachment in the right eye, for which pars plana vitrectomy with endolaser and silicon oil tamponade was done. Four weeks later, the child's BCVA in the right eye was 6/36, which was maintained until the last follow-up of four months. Lens coloboma may be isolated or may occur in association with chorioretinal coloboma. Ours is the first case of unilateral atypical lens coloboma associated with high myopia and bilateral cataracts in a patient with congenital rubella syndrome. Lens colobomas with high myopia have not been reported previously as ocular associations of CRS. Our case highlights that in children with CRS presenting with unilateral or bilateral congenital cataracts, the possibility of lenticular coloboma as a coexistent association should be kept in mind while taking these cases for cataract surgery.
PubMed: 37362544
DOI: 10.7759/cureus.39355 -
BMC Ophthalmology May 2023The coexistence of MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and extremely long axis is rare since microcornea frequently... (Review)
Review
BACKGROUND
The coexistence of MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and extremely long axis is rare since microcornea frequently accompanies with diminution of entire anterior segment and occasionally the whole globe. In the case presented here, combination of these two elements were identified, together with XFS (exfoliation syndrome).
CASE PRESENTATION
A 66-year-old Han Chinese woman presented for consultation due to impaired vision which accompanied throughout her entire life span and worsened during the last 2 years. Combination of MRCS syndrome and extremely long axial length was evidently diagnosed in both eyes, with XFS confirmed in her right eye, but mutation screening failed to identify disease-causing sequence variants in some specific genes reported previously, including BEST1 and ARL2. However, likely pathogenic mutations in FBN2 gene were identified. Bilateral cataract phacoemulsification without intraocular lens implantation was performed using scleral tunnel incision and under general anesthesia. At 3-month follow-up, ocular recovery of the patient was satisfactory.
CONCLUSIONS
The case presented here exhibited rare coexistence of MRCS syndrome, extremely long axis and XFS. The complexity of her ocular abnormalities brought challenges to surgical management, in which multidisciplinary collaboration is often required. Furthermore, the genetic analysis in this case yielded a possible novel candidate gene for MRCS syndrome and provided evidence in support of genetic heterogeneity in this phenotype.
Topics: Female; Humans; Exfoliation Syndrome; Cataract; Cataract Extraction; Phacoemulsification; Retinal Dystrophies; GTP-Binding Proteins; Bestrophins
PubMed: 37254066
DOI: 10.1186/s12886-023-02965-7 -
BMC Oral Health May 2023Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial...
BACKGROUND
Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features.
CASE PRESENTATION
We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26).
CONCLUSIONS
Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals.
Topics: Male; Female; Humans; Intellectual Disability; Cataract; Tooth, Supernumerary; Genetic Diseases, X-Linked
PubMed: 37221585
DOI: 10.1186/s12903-023-03029-4