-
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 -
Saudi Journal of Ophthalmology :... 2019To report a critical case series of six patients with posterior microphthalmos (PM).
AIM
To report a critical case series of six patients with posterior microphthalmos (PM).
METHOD
Complete ophthalmologic examinations of all patients were performed using best-corrected visual acuity (BCVA), cycloplegic refraction, applanation tonometry, slit lamp biomicroscopy of the anterior segment, fundoscopy, A and B mode ultrasonography (USG), keratometry, and optic coherence tomography (OCT).
RESULTS
The most significant clinical characteristics of male patients aged 10-25 years was the presence of shorter posterior segments (mean: 15.27-18.91 mm) accompanying high hyperopia (mean +9.00 - +18.50 diopter) despite the normal anterior segment findings. The BCVA ranged between 20/320 and 40/100. Retinal folds were detected bilaterally on the papillomacular band in all patients. Although neurosensory retina was included in the fold in OCT images, retinal pigment epithelium, choroid, and sclera were not included in the fold. Pigmentary retinopathy was detected in one patient.
CONCLUSION
Despite normal anterior segment, posterior microphthalmos is characterized with high hyperopia, and shorter axial length and bilateral papillomacular retinal fold. Refractive amblyopia, uveal effusion syndrome, retinal detachment and macular hole are complications that can be corrected. Posterior microphthalmos must be kept in mind in patients with a normal anterior segment, and high hyperopia.
PubMed: 30930662
DOI: 10.1016/j.sjopt.2018.10.007 -
European Journal of Human Genetics :... Oct 2023Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can...
Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 variants remains unclear. Here, we describe seven unrelated families with biallelic pathogenic ALDH1A3 variants: four compound heterozygous and three homozygous. All affected individuals had bilateral anophthalmia/microphthalmia (A/M), three with additional intellectual or developmental delay, one with autism and seizures and three with facial dysmorphic features. This study confirms that individuals with biallelic pathogenic ALDH1A3 variants consistently manifest A/M, but additionally display neurodevelopmental features with significant intra- and interfamilial variability. Furthermore, we describe the first case with cataract and highlight the importance of screening ALDH1A3 variants in nonconsanguineous families with A/M.
Topics: Humans; Microphthalmos; Anophthalmos; Mutation; Aldehyde Oxidoreductases; Eye Abnormalities; Phenotype
PubMed: 36997679
DOI: 10.1038/s41431-023-01342-8 -
Indian Journal of Ophthalmology Jul 2022Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report... (Review)
Review
PURPOSE
Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome.
METHODS
The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated.
RESULTS
Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly.
CONCLUSION
Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre-existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients.
Topics: Abnormalities, Multiple; Child; Eyelids; Female; Fraser Syndrome; Humans; Male; Microphthalmos; Rare Diseases; Retrospective Studies; Syndactyly
PubMed: 35791156
DOI: 10.4103/ijo.IJO_2627_21 -
The British Journal of Ophthalmology Nov 2023Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant...
BACKGROUND/AIMS
Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC aetiology and comorbidities is essential to providing patients with appropriate care. However, current management is unstandardised and molecular diagnostic rates remain low, particularly in those with unilateral presentation. To further understanding of clinical and genetic management of patients with MAC, we charted their real-world experience to ascertain optimal management pathways and yield from molecular analysis.
METHODS
A prospective cohort study of consecutive patients with MAC referred to the ocular genetics service at Moorfields Eye Hospital between 2017-2020.
RESULTS
Clinical analysis of 50 MAC patients (15 microphthalmia; 2 anophthalmia; 11 coloboma; and 22 mixed) from 44 unrelated families found 44% had additional ocular features (complex) and 34% had systemic involvement, most frequently intellectual/developmental delay (8/17). Molecular analysis of 39 families using targeted gene panels, whole genome sequencing and microarray comparative genomic hybridisation identified genetic causes in, 28% including novel variants in six known MAC genes (, , , , and ), and a molecular diagnostic rate of 33% for both bilateral and unilateral cohorts. New phenotypic associations were found for (bilateral sensorineural hearing loss) and (unilateral microphthalmia).
CONCLUSION
This study highlights the importance of thorough clinical and molecular phenotyping of MAC patients to provide appropriate multidisciplinary care. Routine genetic testing for both unilateral and bilateral cases in the clinic may increase diagnostic rates in the future, helping elucidate genotype-phenotype correlations and informing genetic counselling.
Topics: Humans; Anophthalmos; Microphthalmos; Coloboma; Prospective Studies; Eye Abnormalities; Eye Proteins; Intracellular Signaling Peptides and Proteins
PubMed: 36192130
DOI: 10.1136/bjo-2022-321991 -
Ophthalmic Genetics Jun 2021: To describe a family with presumed gonadosomatic mosaicism diagnosed upon ophthalmic examination of the proband's mother.: The family underwent comprehensive...
: To describe a family with presumed gonadosomatic mosaicism diagnosed upon ophthalmic examination of the proband's mother.: The family underwent comprehensive ophthalmic and physical examination. Variant detection was performed using trio exome analysis on peripheral leukocyte DNA from blood and saliva samples. Variant segregation analysis was performed using a custom panel NGS sequencing. An identified variant in the gene was confirmed in the proband by Sanger sequencing.: We report an individual with bilateral microphthalmia, developmental delay, hearing loss, and dysmorphic features. Her mother was found to have asymptomatic uveal coloboma affecting her anterior segment. Her father, aunt, and sisters were unaffected. Trio exome sequence analysis showed an apparent heterozygous deletion in the proband, NM_003106.3:c.70_89del, NP_003097.1:p.(Asn24Argfs*65), classified as pathogenic. Testing of the other family members' peripheral blood and saliva was negative for this variant. The iris transillumination abnormalities in the proband's mother supports a gonadosomatic mosaicism scenario.: The results from this family underscore the importance of performing detailed evaluations of the parents of apparently sporadically affected individuals with heritable ophthalmic disorders. The identification of mildly affected individuals could substantially alter recurrence risks.
Topics: Adult; Craniofacial Abnormalities; Developmental Disabilities; Female; Hearing Loss; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Male; Microphthalmos; Mosaicism; Pedigree; SOXB1 Transcription Factors; Sex Chromosome Disorders; Exome Sequencing
PubMed: 33719903
DOI: 10.1080/13816810.2021.1888127 -
American Journal of Ophthalmology Case... Dec 2020We report a case of posterior microphthalmos with characteristic papillomacular retinal folds, pigmentary retinopathy, and optic disc drusen.
PURPOSE
We report a case of posterior microphthalmos with characteristic papillomacular retinal folds, pigmentary retinopathy, and optic disc drusen.
OBSERVATIONS
A 19-year-old female presented with decreased visual acuity and was found to have bilateral posterior microphthalmos with the presence of papillomacular retinal folds, crowded optic nerves with buried disc drusen, and peripheral retinal pigmentary changes. Optical coherence tomography showed presence of retinal folds involving the inner retinal layers and loss of foveal contour.
CONCLUSIONS AND IMPORTANCE
Posterior microphthalmos can present with an array of unique clinical findings involving the posterior segment. It is important to recognize these findings as these patients often have decreased visual acuity and are at risk for the development of other posterior complications.
PubMed: 32964171
DOI: 10.1016/j.ajoc.2020.100915 -
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