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The British Journal of Ophthalmology Mar 1998To define an unusual macular appearance found in association with nanophthalmos.
AIMS
To define an unusual macular appearance found in association with nanophthalmos.
METHODS
A case review.
RESULTS
Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal.
CONCLUSION
A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny's syndrome. Inheritance of nanophthalmos appears to be autosomal recessive.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Humans; Infant; Macula Lutea; Male; Microphthalmos; Retinal Diseases; Syndrome
PubMed: 9602624
DOI: 10.1136/bjo.82.3.276 -
The Pan African Medical Journal 2022
Topics: Humans; Microphthalmos; Siblings; Anophthalmos
PubMed: 36523275
DOI: 10.11604/pamj.2022.43.69.35059 -
Indian Journal of Ophthalmology Feb 2018Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient...
Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.
Topics: Abnormalities, Multiple; Adult; Connexin 43; Craniofacial Abnormalities; DNA; DNA Mutational Analysis; Eye Abnormalities; Foot Deformities, Congenital; Humans; Male; Microphthalmos; Syndactyly; Tomography, Optical Coherence; Tooth Abnormalities
PubMed: 29380799
DOI: 10.4103/ijo.IJO_756_17 -
Investigative Ophthalmology & Visual... Mar 2021Patients with nanophthalmos who undergo intraocular surgery often present with abnormal ciliary zonules. In a previous study, we reported mutation in MYRF that is...
PURPOSE
Patients with nanophthalmos who undergo intraocular surgery often present with abnormal ciliary zonules. In a previous study, we reported mutation in MYRF that is implicated in the pathogenesis of nanophthalmos. The aim of this study was to model the mutation in mice to explore the role of MYRF on zonule structure and its major molecular composition, including FBN1 and FBN2.
METHODS
Human MYRF nanophthalmos frameshift mutation was generated in mouse using the CRISPR-Cas9 system. PCR and Sanger sequencing were used for genotype analysis of the mice model. Anterior chamber depth (ACD) was measured using hematoxylin and eosin-stained histology samples. Morphologic analysis of ciliary zonules was carried out using silver staining and immunofluorescence. Transcript and protein expression levels of MYRF, FBN1, and FBN2 in ciliary bodies were quantified using quantitative real-time PCR (qRT-PCR) and Western blot.
RESULTS
A nanophthalmos frameshift mutation (c.789delC, p.N264fs) of MYRF in mice showed ocular phenotypes similar to those reported in patients with nanophthalmos. ACD was reduced in MYRF mutant mice (MYRFmut/+) compared with that in littermate control mice (MYRF+/+). In addition, the morphology of ciliary zonules showed reduced zonular fiber density and detectable structural dehiscence of zonular fibers. Furthermore, qRT-PCR analysis and Western blot showed a significant decrease in mRNA expression levels of MYRF, FBN1, and FBN2 in MYRFmut/+ mice.
CONCLUSIONS
Changes in the structure and major molecular composition of ciliary zonules accompanied with shallowing anterior chamber were detected in MYRFmut/+ mice. Therefore, MYRF mutant mice strain is a useful model for exploring pathogenesis of zonulopathy, which is almost elusive for basic researches due to lack of appropriate animal models.
Topics: Animals; Anterior Chamber; Blotting, Western; CRISPR-Cas Systems; Ciliary Body; Disease Models, Animal; Female; Fibrillin-1; Fibrillin-2; Frameshift Mutation; Gene Expression Regulation; Genotyping Techniques; Glaucoma, Angle-Closure; Humans; Hyperopia; Immunohistochemistry; Ligaments; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Microphthalmos; RNA, Messenger; Real-Time Polymerase Chain Reaction; Transcription Factors; Uveal Diseases
PubMed: 33646289
DOI: 10.1167/iovs.62.3.1 -
BMJ Case Reports Sep 2020
Topics: Diagnosis, Differential; Eye Enucleation; Female; Humans; Infant; Magnetic Resonance Imaging; Microphthalmos; Retina; Retinal Dysplasia; Retinal Neoplasms; Retinoblastoma; Ultrasonography
PubMed: 32938657
DOI: 10.1136/bcr-2020-238463 -
Genes Feb 2021Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ... (Review)
Review
Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations. The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., , , and , which are all endowed with defined roles in the mitochondrial respiratory chain. A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. All three genes undergo X-inactivation that, according to our hypothesis, may contribute to the extreme variable expressivity observed in this condition. We propose that mitochondrial dysfunction should be considered as an underlying cause in developmental disorders. Moreover, LSDMCA should be taken into consideration by clinicians when dealing with patients with microphthalmia with or without associated skin phenotypes.
Topics: Chromosomes, Human, X; Electron Transport Complex I; Electron Transport Complex IV; Female; Genetic Diseases, X-Linked; Humans; Lyases; Male; Microphthalmos; Mitochondrial Diseases; Mutation; Skin; Skin Abnormalities
PubMed: 33670341
DOI: 10.3390/genes12020263 -
Indian Pediatrics Nov 2015
Topics: Cataract; Child, Preschool; Female; Heart Septal Defects; Humans; Microphthalmos
PubMed: 26615357
DOI: No ID Found -
Journal of Medical Case Reports Jan 2024Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is...
BACKGROUND
Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case.
CASE PRESENTATION
A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient's genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant.
CONCLUSION
Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.
Topics: Female; Humans; Young Adult; Eye Abnormalities; Face; Heart Defects, Congenital; Heart Septal Defects; Microphthalmos; Syndrome
PubMed: 38178193
DOI: 10.1186/s13256-023-04244-x -
Genes Mar 2023The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients...
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.
Topics: Humans; Retrospective Studies; Genetic Testing; Eye; Optic Nerve Diseases; Microphthalmos
PubMed: 36980998
DOI: 10.3390/genes14030726 -
Journal of AAPOS : the Official... Oct 2006
Topics: Abnormalities, Multiple; Anterior Chamber; Brain; Eye Abnormalities; Fatal Outcome; Humans; Hydrophthalmos; Infant; Infant, Newborn; Male; Microphthalmos; Muscular Dystrophies; Optic Nerve; Persistent Fetal Circulation Syndrome; Retinal Detachment; Syndrome; Ultrasonography
PubMed: 17070491
DOI: 10.1016/j.jaapos.2006.06.016